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    ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 [ Homo sapiens (human) ]

    Gene ID: 23229, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ARHGEF9provided by HGNC
    Official Full Name
    Cdc42 guanine nucleotide exchange factor 9provided by HGNC
    Primary source
    HGNC:HGNC:14561
    See related
    Ensembl:ENSG00000131089 MIM:300429; AllianceGenome:HGNC:14561
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DEE8; PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN
    Summary
    The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in brain (RPKM 18.5), heart (RPKM 6.1) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGEF9 in Genome Data Viewer
    Location:
    Xq11.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (63634967..63785214, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (62060231..62210488, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (62854847..63005094, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SPIN4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20874 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:62627697-62628511 Neighboring gene spindlin family member 4 Neighboring gene long intergenic non-protein coding RNA 1278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:62712259-62712759 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:62724271-62724771 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:62723770-62724270 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:62780155-62780696 Neighboring gene ARHGEF9 intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20875 Neighboring gene uncharacterized LOC128031833 Neighboring gene Sharpr-MPRA regulatory region 13270 Neighboring gene basic transcription factor 3 pseudogene 8 Neighboring gene microRNA 1468 Neighboring gene heterogeneous nuclear ribonucleoprotein D pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42. Reid T, et al. J Biol Chem, 1999 Nov 19. PMID 10559246
    2. Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. Shimojima K, et al. J Hum Genet, 2011 Aug. PMID 21633362
    3. Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses. Tyagarajan SK, et al. J Cell Sci, 2011 Aug 15. PMID 21807943, Free PMC Article
    4. Gs and Gq signalings regulate hPEM-2-induced cell responses in Neuro-2a cells. Nagae R, et al. Biochem Biophys Res Commun, 2011 Nov 11. PMID 22033413
    5. Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability. Papadopoulos T, et al. J Biol Chem, 2015 Mar 27. PMID 25678704, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA-p21 suppresses cell proliferation and induces apoptosis in gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9 expression.
      Title: LncRNA-p21 suppresses cell proliferation and induces apoptosis in gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9 expression.
    2. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
      Title: ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
    3. Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.
      Title: Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.
    4. Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor alpha2 subunit.
      Title: Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor α2 subunit.
    5. De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
      Title: De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
    6. Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy.
      Title: Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy.
    7. Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma.
      Title: Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma.
    8. Study identified a novel mutation in ARHGEF9, c.868C > T/p.R290C, which co-segregated with epileptic encephalopathy, and validated its association with epileptic encephalopathy. Further analysis revealed that all ARHGEF9 mutations were associated with intellectual disability.
      Title: ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
    9. Autism spectrum disorder patient with the smallest inactivating deletion in the collybistin gene.
      Title: Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
    10. Collybistin forms a complex with mTOR and eIF3 and by sequestering these proteins downregulates mTORC1 signaling and protein synthesis potentially contributing to intellectual disability and autism.
      Title: Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 8
    MedGen: C1845102 OMIM: 300607 GeneReviews: Hereditary Hyperekplexia Overview
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-11-24)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-11-24)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0424

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of postsynaptic specialization assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in postsynaptic specialization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    rho guanine nucleotide exchange factor 9
    Names
    Cdc42 guanine nucleotide exchange factor (GEF) 9
    PEM-2 homolog
    hPEM-2 collybistin
    rac/Cdc42 guanine nucleotide exchange factor 9

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016975.1 RefSeqGene

      Range
      5333..155580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001173479.2 → NP_001166950.1  rho guanine nucleotide exchange factor 9 isoform 2

      See identical proteins and their annotated locations for NP_001166950.1

      Status: REVIEWED

      Source sequence(s)
      AB007884, AK295033, AL391277
      Consensus CDS
      CCDS55430.1
      UniProtKB/TrEMBL
      A0A5F9ZGZ3
      Related
      ENSP00000485369.1, ENST00000623517.3
      Conserved Domains (2) summary
      smart00325
      Location:54 → 233
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:238 → 377
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    2. NM_001173480.2 → NP_001166951.1  rho guanine nucleotide exchange factor 9 isoform 3

      See identical proteins and their annotated locations for NP_001166951.1

      Status: REVIEWED

      Source sequence(s)
      AB007884, AL391277, BC056892, BP270451
      Consensus CDS
      CCDS55429.1
      UniProtKB/TrEMBL
      A0A5F9ZGZ3
      Related
      ENSP00000485626.1, ENST00000624843.3
      Conserved Domains (2) summary
      smart00325
      Location:5 → 184
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:189 → 328
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    3. NM_001330495.2 → NP_001317424.1  rho guanine nucleotide exchange factor 9 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AL355142, AL391277, AL451106
      Consensus CDS
      CCDS83477.1
      UniProtKB/TrEMBL
      A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
      Conserved Domains (3) summary
      cd11975
      Location:1 → 47
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:86 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:270 → 409
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    4. NM_001353921.2 → NP_001340850.1  rho guanine nucleotide exchange factor 9 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Consensus CDS
      CCDS94619.1
      UniProtKB/TrEMBL
      A0A2X0SYV8, A0A5F9ZHY9
      Related
      ENSP00000500715.1, ENST00000671741.2
      Conserved Domains (3) summary
      cd11975
      Location:14 → 75
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:114 → 293
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:298 → 437
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    5. NM_001353922.2 → NP_001340851.1  rho guanine nucleotide exchange factor 9 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      UniProtKB/TrEMBL
      A0A2X0SYV8
      Conserved Domains (3) summary
      cd11975
      Location:14 → 75
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:114 → 293
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cl17171
      Location:298 → 393
      PH-like; Pleckstrin homology-like domain

    6. NM_001353923.1 → NP_001340852.1  rho guanine nucleotide exchange factor 9 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Consensus CDS
      CCDS87753.1
      UniProtKB/TrEMBL
      A0A1B0GWI5, A0A2X0SYV8
      Related
      ENSP00000490940.1, ENST00000635729.1
      Conserved Domains (3) summary
      cd11975
      Location:20 → 81
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:120 → 299
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:304 → 443
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    7. NM_001353924.2 → NP_001340853.1  rho guanine nucleotide exchange factor 9 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) encodes a protein that is the same length as variant (9) but isoforms 8 and 9 have distinct N-termini.
      Source sequence(s)
      AL355142, AL391277, AL451106
      UniProtKB/TrEMBL
      A0A5F9ZGZ3
      Related
      ENSP00000490459.1, ENST00000637040.1
      Conserved Domains (2) summary
      smart00325
      Location:47 → 226
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:231 → 370
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    8. NM_001353926.2 → NP_001340855.1  rho guanine nucleotide exchange factor 9 isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) encodes a protein that is the same length as variant (8) but isoforms 8 and 9 have distinct N-termini.
      Source sequence(s)
      AL355142, AL391277, AL451106
      UniProtKB/TrEMBL
      A0A5F9ZGZ3
      Conserved Domains (2) summary
      smart00325
      Location:47 → 226
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:231 → 370
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    9. NM_001353927.2 → NP_001340856.1  rho guanine nucleotide exchange factor 9 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Consensus CDS
      CCDS94618.1
      UniProtKB/TrEMBL
      A0A2X0SYV8, A0A5F9ZI31
      Related
      ENSP00000500825.1, ENST00000672513.1
      Conserved Domains (3) summary
      smart00325
      Location:86 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cl17036
      Location:1 → 47
      SH3; Src Homology 3 domain superfamily
      cl17171
      Location:270 → 365
      PH-like; Pleckstrin homology-like domain

    10. NM_001353928.2 → NP_001340857.1  rho guanine nucleotide exchange factor 9 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      UniProtKB/TrEMBL
      A0A2X0SYV8
      Conserved Domains (3) summary
      cd11975
      Location:7 → 68
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:107 → 286
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cl17171
      Location:291 → 386
      PH-like; Pleckstrin homology-like domain

    11. NM_001369030.1 → NP_001355959.1  rho guanine nucleotide exchange factor 9 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Consensus CDS
      CCDS35315.1
      UniProtKB/Swiss-Prot
      A8K1S8, B4DHC7, F8W7P8, O43307, Q5JSL6
      UniProtKB/TrEMBL
      A0A2X0SYV8
      Related
      ENSP00000500829.1, ENST00000671907.1
      Conserved Domains (3) summary
      cd11975
      Location:7 → 68
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:107 → 286
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:291 → 430
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    12. NM_001369031.1 → NP_001355960.1  rho guanine nucleotide exchange factor 9 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      UniProtKB/TrEMBL
      A0A2X0SYV8
      Conserved Domains (3) summary
      cd11975
      Location:7 → 68
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:107 → 286
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:291 → 430
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    13. NM_001369032.1 → NP_001355961.1  rho guanine nucleotide exchange factor 9 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      UniProtKB/TrEMBL
      A0A2X0SYV8
      Conserved Domains (3) summary
      cd11975
      Location:7 → 68
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:107 → 286
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:291 → 430
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    14. NM_001369033.1 → NP_001355962.1  rho guanine nucleotide exchange factor 9 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Consensus CDS
      CCDS83477.1
      UniProtKB/TrEMBL
      A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
      Related
      ENSP00000485282.2, ENST00000624538.2
      Conserved Domains (3) summary
      cd11975
      Location:1 → 47
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:86 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:270 → 409
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    15. NM_001369034.1 → NP_001355963.1  rho guanine nucleotide exchange factor 9 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Consensus CDS
      CCDS83477.1
      UniProtKB/TrEMBL
      A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
      Related
      ENSP00000490269.1, ENST00000637417.1
      Conserved Domains (3) summary
      cd11975
      Location:1 → 47
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:86 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:270 → 409
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    16. NM_001369035.1 → NP_001355964.1  rho guanine nucleotide exchange factor 9 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Consensus CDS
      CCDS83477.1
      UniProtKB/TrEMBL
      A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
      Related
      ENSP00000485144.1, ENST00000624210.3
      Conserved Domains (3) summary
      cd11975
      Location:1 → 47
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:86 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:270 → 409
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    17. NM_001369036.1 → NP_001355965.1  rho guanine nucleotide exchange factor 9 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Consensus CDS
      CCDS83477.1
      UniProtKB/TrEMBL
      A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
      Related
      ENSP00000490679.1, ENST00000637557.1
      Conserved Domains (3) summary
      cd11975
      Location:1 → 47
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:86 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:270 → 409
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    18. NM_001369037.1 → NP_001355966.1  rho guanine nucleotide exchange factor 9 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL391277, AL451106, BC018106
      Consensus CDS
      CCDS83477.1
      UniProtKB/TrEMBL
      A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
      Related
      ENSP00000364006.1, ENST00000374872.4
      Conserved Domains (3) summary
      cd11975
      Location:1 → 47
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:86 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:270 → 409
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    19. NM_001369038.1 → NP_001355967.1  rho guanine nucleotide exchange factor 9 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Consensus CDS
      CCDS83477.1
      UniProtKB/TrEMBL
      A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
      Conserved Domains (3) summary
      cd11975
      Location:1 → 47
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:86 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:270 → 409
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    20. NM_001369039.1 → NP_001355968.1  rho guanine nucleotide exchange factor 9 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      UniProtKB/TrEMBL
      A0A5F9ZGZ3
      Conserved Domains (2) summary
      smart00325
      Location:47 → 226
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:231 → 370
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    21. NM_001369040.1 → NP_001355969.1  rho guanine nucleotide exchange factor 9 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      UniProtKB/TrEMBL
      A0A5F9ZGZ3
      Related
      ENSP00000499905.1, ENST00000672194.1
      Conserved Domains (2) summary
      smart00325
      Location:47 → 226
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:231 → 370
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    22. NM_001369041.1 → NP_001355970.1  rho guanine nucleotide exchange factor 9 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Consensus CDS
      CCDS94618.1
      UniProtKB/TrEMBL
      A0A2X0SYV8, A0A5F9ZI31
      Conserved Domains (3) summary
      smart00325
      Location:86 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cl17036
      Location:1 → 47
      SH3; Src Homology 3 domain superfamily
      cl17171
      Location:270 → 365
      PH-like; Pleckstrin homology-like domain

    23. NM_001369042.1 → NP_001355971.1  rho guanine nucleotide exchange factor 9 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Consensus CDS
      CCDS55429.1
      UniProtKB/TrEMBL
      A0A5F9ZGZ3
      Conserved Domains (2) summary
      smart00325
      Location:5 → 184
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:189 → 328
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    24. NM_001369043.1 → NP_001355972.1  rho guanine nucleotide exchange factor 9 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Conserved Domains (3) summary
      smart00325
      Location:86 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cl17036
      Location:1 → 47
      SH3; Src Homology 3 domain superfamily
      cl17171
      Location:270 → 343
      PH-like; Pleckstrin homology-like domain

    25. NM_001369044.1 → NP_001355973.1  rho guanine nucleotide exchange factor 9 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL355142, AL391277, AL451106
      Conserved Domains (3) summary
      smart00325
      Location:86 → 265
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cl17036
      Location:1 → 47
      SH3; Src Homology 3 domain superfamily
      cl17171
      Location:270 → 343
      PH-like; Pleckstrin homology-like domain

    26. NM_001369045.1 → NP_001355974.1  rho guanine nucleotide exchange factor 9 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL391277, AL451106, BC043497
      Conserved Domains (2) summary
      smart00325
      Location:1 → 148
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cl17171
      Location:153 → 248
      PH-like; Pleckstrin homology-like domain

    27. NM_015185.3 → NP_056000.1  rho guanine nucleotide exchange factor 9 isoform 1

      See identical proteins and their annotated locations for NP_056000.1

      Status: REVIEWED

      Source sequence(s)
      AB007884, AL391277, BP270451
      Consensus CDS
      CCDS35315.1
      UniProtKB/Swiss-Prot
      A8K1S8, B4DHC7, F8W7P8, O43307, Q5JSL6
      UniProtKB/TrEMBL
      A0A2X0SYV8
      Related
      ENSP00000253401.6, ENST00000253401.10
      Conserved Domains (3) summary
      cd11975
      Location:7 → 68
      SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
      smart00325
      Location:107 → 286
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01224
      Location:291 → 430
      PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      63634967..63785214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      62060231..62210488 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43307.3 GenPept UniProtKB/Swiss-Prot:O43307

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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