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

Gene ID: 83992, updated on 7-Apr-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
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Genomic context

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Location:
7q31.31
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (117710651..117873441, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (119026042..119189157, complement)
105.20220307 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. 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
  4. Isolation and characterization of cortactin isoforms and a novel cortactin-binding protein, CBP90. Ohoka Y, et al. Genes Cells, 1998 Sep. PMID 9813110
  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 (41) 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)

Genotypes

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
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
  
located_in dendritic spine IEA
Inferred from Electronic Annotation
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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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_2023_10

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

  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

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

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

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

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

  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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