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    ARHGEF19 Rho guanine nucleotide exchange factor 19 [ Homo sapiens (human) ]

    Gene ID: 128272, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ARHGEF19provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 19provided by HGNC
    Primary source
    HGNC:HGNC:26604
    See related
    Ensembl:ENSG00000142632 MIM:612496; AllianceGenome:HGNC:26604
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WGEF
    Summary
    Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]
    Expression
    Ubiquitous expression in skin (RPKM 10.4), thyroid (RPKM 4.9) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGEF19 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16197854..16212652, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15639202..15653982, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16524349..16539147, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CLCNKB recombination region Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16387001-16387191 Neighboring gene family with sequence similarity 131 member C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16400409-16400908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16408357-16408856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16408906-16409838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16440794-16441636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16442478-16443319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16444655-16445328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16446600-16447156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16449091-16449770 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16457212-16457413 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16467866-16468833 Neighboring gene EPH receptor A2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16470345-16470872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16470873-16471401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16472987-16473515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16476741-16477376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16477377-16478012 Neighboring gene hESC enhancers GRCh37_chr1:16488540-16489068 and GRCh37_chr1:16489069-16489596 Neighboring gene EPHA2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16489597-16490124 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16490125-16490652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16491605-16492545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16494833-16495478 Neighboring gene Sharpr-MPRA regulatory region 6356 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16508387-16509367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16510195-16510694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16510785-16511286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16511287-16511786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16533787-16534760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16534761-16535733 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16538951-16539649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16542837-16543533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16557534-16558362 Neighboring gene anoctamin 7 like 1 (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16563171-16563715 Neighboring gene ciliogenesis and planar polarity effector complex subunit 2

    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. ARHGEF19 regulates MAPK/ERK signaling and promotes the progression of small cell lung cancer. Wang Z, et al. Biochem Biophys Res Commun, 2020 Dec 17. PMID 32993957
    2. ARHGEF19 interacts with BRAF to activate MAPK signaling during the tumorigenesis of non-small cell lung cancer. Li Y, et al. Int J Cancer, 2018 Apr 1. PMID 29164615
    3. Dishevelled2 activates WGEF via its interaction with a unique internal peptide motif of the GEF. Omble A, et al. Commun Biol, 2024 May 7. PMID 38714795, Free PMC Article
    4. WGEF is a novel RhoGEF expressed in intestine, liver, heart, and kidney. Wang Y, et al. Biochem Biophys Res Commun, 2004 Nov 19. PMID 15485661
    5. miR-503 regulates metastatic function through Rho guanine nucleotide exchanger factor 19 in hepatocellular carcinoma. Zhou J, et al. J Surg Res, 2014 May 1. PMID 24405610

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dishevelled2 activates WGEF via its interaction with a unique internal peptide motif of the GEF.
      Title: Dishevelled2 activates WGEF via its interaction with a unique internal peptide motif of the GEF.
    2. ARHGEF19 regulates MAPK/ERK signaling and promotes the progression of small cell lung cancer.
      Title: ARHGEF19 regulates MAPK/ERK signaling and promotes the progression of small cell lung cancer.
    3. These findings suggest that ARHGEF19 upregulation, due to the low expression of miR-29 in non-small cell lung cancer tissues, may play a crucial role in non-small cell lung cancer tumorigenesis by activating MAPK signaling
      Title: ARHGEF19 interacts with BRAF to activate MAPK signaling during the tumorigenesis of non-small cell lung cancer.
    4. overcomes the suppressive influence of miR-503 in hepatocellular carcinoma cells
      Title: miR-503 regulates metastatic function through Rho guanine nucleotide exchanger factor 19 in hepatocellular carcinoma.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of Rho guanine nucleotide exchange factor 19 (ARHGEF19) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33962

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    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 Wnt signaling pathway, planar cell polarity pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of actin cytoskeleton organization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    involved_in wound healing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    rho guanine nucleotide exchange factor 19
    Names
    Rho guanine nucleotide exchange factor (GEF) 19
    ephexin-2
    ephexin2
    weakly similar to Rho GEF

    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.

    mRNA and Protein(s)

    1. NM_153213.5 → NP_694945.2  rho guanine nucleotide exchange factor 19

      See identical proteins and their annotated locations for NP_694945.2

      Status: VALIDATED

      Source sequence(s)
      AK297707, AL137736, BC040640
      Consensus CDS
      CCDS170.1
      UniProtKB/Swiss-Prot
      A6NJ04, Q5TEV2, Q6PJQ4, Q8IW93, Q8N244
      UniProtKB/TrEMBL
      A0A2X0SFB1
      Related
      ENSP00000270747.3, ENST00000270747.8
      Conserved Domains (4) summary
      cd11940
      Location:719 → 773
      SH3_ARHGEF5_19; Src homology 3 domain of the Rho guanine nucleotide exchange factors ARHGEF5 and ARHGEF19
      cd01221
      Location:580 → 706
      PH_ephexin; Ephexin Pleckstrin homology (PH) domain
      pfam00621
      Location:382 → 558
      RhoGEF; RhoGEF domain
      cl28033
      Location:10 → 353
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      16197854..16212652 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540706.4 → XP_011539008.1  rho guanine nucleotide exchange factor 19 isoform X1

      See identical proteins and their annotated locations for XP_011539008.1

      UniProtKB/Swiss-Prot
      A6NJ04, Q5TEV2, Q6PJQ4, Q8IW93, Q8N244
      UniProtKB/TrEMBL
      A0A2X0SFB1
      Conserved Domains (4) summary
      cd11940
      Location:719 → 773
      SH3_ARHGEF5_19; Src homology 3 domain of the Rho guanine nucleotide exchange factors ARHGEF5 and ARHGEF19
      cd01221
      Location:580 → 706
      PH_ephexin; Ephexin Pleckstrin homology (PH) domain
      pfam00621
      Location:382 → 558
      RhoGEF; RhoGEF domain
      cl28033
      Location:10 → 353
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    RNA

    1. XR_946544.2 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791756.1 Reference GRCh38.p14 PATCHES

      Range
      1991..16789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332763.1 → XP_054188738.1  rho guanine nucleotide exchange factor 19 isoform X1

      UniProtKB/Swiss-Prot
      A6NJ04, Q5TEV2, Q6PJQ4, Q8IW93, Q8N244
      UniProtKB/TrEMBL
      A0A2X0SFB1

    RNA

    1. XR_008485793.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      15639202..15653982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334430.1 → XP_054190405.1  rho guanine nucleotide exchange factor 19 isoform X1

      UniProtKB/Swiss-Prot
      A6NJ04, Q5TEV2, Q6PJQ4, Q8IW93, Q8N244
      UniProtKB/TrEMBL
      A0A2X0SFB1

    RNA

    1. XR_008485929.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IW93.1 GenPept UniProtKB/Swiss-Prot:Q8IW93

    Gene LinkOut

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

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