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    CTTNBP2 cortactin binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 83992, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CTTNBP2provided by HGNC
    Official Full Name
    cortactin binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:15679
    See related
    Ensembl:ENSG00000077063 MIM:609772; AllianceGenome:HGNC:15679
    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
    Orf4; C7orf8; CORTBP2
    Summary
    This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 5.1), esophagus (RPKM 3.1) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CTTNBP2 in Genome Data Viewer
    Location:
    7q31.31
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (117710651..117873441, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (119026042..119189157, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117350705..117513495, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375468 Neighboring gene DNase I hypersensitive site -20.9 kb upstream of CFTR Neighboring gene greater CFTR locus negative regulatory element NR9 Neighboring gene CFTR promoter region Neighboring gene CFTR intron 1 enhancer Neighboring gene CFTR intron 2 DNase I hypersensitive site Neighboring gene CFTR intron 3 DNase I hypersensitive site Neighboring gene greater CFTR locus negative regulatory element CR19 Neighboring gene CF transmembrane conductance regulator Neighboring gene greater CFTR locus negative regulatory element CR20 Neighboring gene DNase I hypersensitive sites in intron 10ab of CFTR Neighboring gene DNase I hypersensitive site in intron 10c of CFTR Neighboring gene CFTR antisense RNA 1 Neighboring gene CFTR intron 11 enhancer Neighboring gene DNase I hypersensitive sites in introns 16 and 17a of CFTR Neighboring gene CFTR intron 18a DNase I hypersensitive site Neighboring gene DNase I hypersensitive site in intron 18 of CFTR Neighboring gene CFTR intron 18b DNase I hypersensitive site Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:117270281-117271480 Neighboring gene CFTR intron 19 DNase I hypersensitive site Neighboring gene CFTR intron 20 enhancer Neighboring gene CFTR intron 21 enhancer Neighboring gene CFTR intron 23 enhancer Neighboring gene DNase I hypersensitive region 5.4 to 7.4 kb downstream of CFTR Neighboring gene DNase I hypersensitive region 15.6 kb downstream of CFTR Neighboring gene CFTR +21.5 kb DNase I hypersensitive site Neighboring gene CFTR +36.6 kb downstream enhancer Neighboring gene greater CFTR locus negative regulatory element NR11 Neighboring gene CTTNBP2 intron enhancer-blocking element 7-1-1 Neighboring gene uncharacterized LOC105375469 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:117372591-117372808 Neighboring gene greater CFTR locus negative regulatory element NR12 Neighboring gene DNase I hypersensitive site 83.7 kb downstream of CFTR Neighboring gene greater CFTR locus negative regulatory element CR27 Neighboring gene greater CFTR locus negative regulatory element NR13 Neighboring gene greater CFTR locus negative regulatory element CR28 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:117449968-117450716 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:117450717-117451463 Neighboring gene greater CFTR locus negative regulatory element NR14 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:117499510-117499710 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:117590690-117591889 Neighboring gene greater CFTR locus negative regulatory element NR19 Neighboring gene uncharacterized LOC105375470 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:117830912-117831127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26548 Neighboring gene LSM8 homolog, U6 small nuclear RNA associated

    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. Cortactin-binding protein 2 increases microtubule stability and regulates dendritic arborization. Shih PY, et al. J Cell Sci, 2014 Aug 15. PMID 24928895
    2. Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Cheung J, et al. Genomics, 2001 Nov. PMID 11707066
    3. Isolation and characterization of cortactin isoforms and a novel cortactin-binding protein, CBP90. Ohoka Y, et al. Genes Cells, 1998 Sep. PMID 9813110
    4. Transcription-dependent spatial arrangements of CFTR and adjacent genes in human cell nuclei. Zink D, et al. J Cell Biol, 2004 Sep 13. PMID 15364959, Free PMC Article
    5. HectD1 E3 ligase modifies adenomatous polyposis coli (APC) with polyubiquitin to promote the APC-axin interaction. Tran H, et al. J Biol Chem, 2013 Feb 8. PMID 23277359, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cttnbp2 increases microtubule stability and regulates dendritic arborization.
      Title: Cortactin-binding protein 2 increases microtubule stability and regulates dendritic arborization.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. CORTBP2 (CTTNBP2) has a transcription-dependent spatial arrangement.
      Title: Transcription-dependent spatial arrangements of CFTR and adjacent genes in human cell nuclei.
    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

    EBI GWAS Catalog

    Description
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34229, KIAA1758, MGC104579

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of modification of postsynaptic actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of synapse organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of FAR/SIN/STRIPAK complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendritic spine ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in glutamatergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cortactin-binding protein 2
    Names
    CORTBP2, C7orf8

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_050685.2 RefSeqGene

      Range
      5000..167790
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363349.1 → NP_001350278.1  cortactin-binding protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC004240, AC007568
      UniProtKB/TrEMBL
      Q2I0A6
      Conserved Domains (6) summary
      COG0666
      Location:777 → 919
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:720 → 845
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:758 → 789
      ANK; ANK repeat [structural motif]
      pfam09727
      Location:18 → 162
      CortBP2; Cortactin-binding protein-2
      cl25732
      Location:109 → 253
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26464
      Location:333 → 700
      Atrophin-1; Atrophin-1 family

    2. NM_001363350.1 → NP_001350279.1  cortactin-binding protein 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC004240, AF377960, BC019644, DB085853
      UniProtKB/TrEMBL
      H0Y448
      Conserved Domains (3) summary
      COG0666
      Location:96 → 238
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:39 → 164
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:77 → 108
      ANK; ANK repeat [structural motif]

    3. NM_001363351.1 → NP_001350280.1  cortactin-binding protein 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC004240, AF377960, BC019644, CN255418
      UniProtKB/TrEMBL
      H0Y448
      Related
      ENSP00000389576.1, ENST00000446636.5
      Conserved Domains (3) summary
      COG0666
      Location:96 → 238
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:39 → 164
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:77 → 108
      ANK; ANK repeat [structural motif]

    4. NM_033427.3 → NP_219499.1  cortactin-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_219499.1

      Status: REVIEWED

      Source sequence(s)
      AC004240, AC007568
      Consensus CDS
      CCDS5774.1
      UniProtKB/Swiss-Prot
      O43389, Q7LG11, Q8WZ74, Q9C0A5
      UniProtKB/TrEMBL
      Q20BG9, Q20BI7
      Related
      ENSP00000160373.3, ENST00000160373.8
      Conserved Domains (8) summary
      cd00204
      Location:738 → 863
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14686
      Location:119 → 168
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
      pfam09727
      Location:36 → 180
      CortBP2; Cortactin-binding protein-2
      pfam12796
      Location:748 → 839
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:712 → 764
      Ank_4; Ankyrin repeats (many copies)
      pfam16789
      Location:111 → 270
      YscO-like; YscO-like protein
      sd00045
      Location:776 → 807
      ANK; ANK repeat [structural motif]
      cl23720
      Location:146 → 263
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      117710651..117873441 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446964.2 → XP_024302732.1  cortactin-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      Q2I0A6
      Conserved Domains (6) summary
      COG0666
      Location:753 → 895
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:696 → 821
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:734 → 765
      ANK; ANK repeat [structural motif]
      pfam09727
      Location:1 → 138
      CortBP2; Cortactin-binding protein-2
      cl25732
      Location:69 → 229
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26464
      Location:309 → 676
      Atrophin-1; Atrophin-1 family

    2. XM_024446963.2 → XP_024302731.1  cortactin-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      Q2I0A6
      Conserved Domains (6) summary
      COG0666
      Location:753 → 895
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:696 → 821
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:734 → 765
      ANK; ANK repeat [structural motif]
      pfam09727
      Location:1 → 138
      CortBP2; Cortactin-binding protein-2
      cl25732
      Location:69 → 229
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26464
      Location:309 → 676
      Atrophin-1; Atrophin-1 family

    3. XM_011516615.4 → XP_011514917.1  cortactin-binding protein 2 isoform X1

      UniProtKB/TrEMBL
      Q2I0A6
      Conserved Domains (8) summary
      cd00204
      Location:720 → 845
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14686
      Location:101 → 150
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
      pfam09727
      Location:18 → 162
      CortBP2; Cortactin-binding protein-2
      pfam12796
      Location:730 → 821
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:694 → 746
      Ank_4; Ankyrin repeats (many copies)
      pfam16789
      Location:93 → 252
      YscO-like; YscO-like protein
      sd00045
      Location:758 → 789
      ANK; ANK repeat [structural motif]
      cl23720
      Location:128 → 245
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    4. XM_017012706.3 → XP_016868195.1  cortactin-binding protein 2 isoform X3

      UniProtKB/TrEMBL
      Q20BG7

    5. XM_047420933.1 → XP_047276889.1  cortactin-binding protein 2 isoform X4

      UniProtKB/TrEMBL
      Q20BG7

    6. XM_017012707.2 → XP_016868196.1  cortactin-binding protein 2 isoform X6

    7. XM_047420934.1 → XP_047276890.1  cortactin-binding protein 2 isoform X5

    8. XM_011516618.3 → XP_011514920.1  cortactin-binding protein 2 isoform X7

      Conserved Domains (8) summary
      cd00204
      Location:738 → 863
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14686
      Location:119 → 168
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
      pfam09727
      Location:36 → 180
      CortBP2; Cortactin-binding protein-2
      pfam12796
      Location:748 → 839
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:712 → 764
      Ank_4; Ankyrin repeats (many copies)
      pfam16789
      Location:111 → 270
      YscO-like; YscO-like protein
      sd00045
      Location:776 → 807
      ANK; ANK repeat [structural motif]
      cl23720
      Location:146 → 263
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      119026042..119189157 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359189.1 → XP_054215164.1  cortactin-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      Q2I0A6

    2. XM_054359188.1 → XP_054215163.1  cortactin-binding protein 2 isoform X2

      UniProtKB/TrEMBL
      Q2I0A6

    3. XM_054359187.1 → XP_054215162.1  cortactin-binding protein 2 isoform X1

      UniProtKB/TrEMBL
      Q2I0A6

    4. XM_054359190.1 → XP_054215165.1  cortactin-binding protein 2 isoform X3

      UniProtKB/TrEMBL
      Q20BG7

    5. XM_054359191.1 → XP_054215166.1  cortactin-binding protein 2 isoform X4

      UniProtKB/TrEMBL
      Q20BG7

    6. XM_054359193.1 → XP_054215168.1  cortactin-binding protein 2 isoform X6

    7. XM_054359192.1 → XP_054215167.1  cortactin-binding protein 2 isoform X5

    8. XM_054359194.1 → XP_054215169.1  cortactin-binding protein 2 isoform X8

    9. XM_054359195.1 → XP_054215170.1  cortactin-binding protein 2 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WZ74.1 GenPept UniProtKB/Swiss-Prot:Q8WZ74

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