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Aliases for CTTNBP2 Gene

Aliases for CTTNBP2 Gene

  • Cortactin Binding Protein 2 2 3 5
  • CORTBP2 3 4
  • C7orf8 3 4
  • Cortactin-Binding Protein 2 3
  • KIAA1758 4
  • Orf4 3

External Ids for CTTNBP2 Gene

Previous HGNC Symbols for CTTNBP2 Gene

  • CORTBP2
  • C7orf8

Previous GeneCards Identifiers for CTTNBP2 Gene

  • GC07M116906
  • GC07M116944
  • GC07M117137
  • GC07M117350
  • GC07M111716

Summaries for CTTNBP2 Gene

Entrez Gene Summary for CTTNBP2 Gene

  • 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]

GeneCards Summary for CTTNBP2 Gene

CTTNBP2 (Cortactin Binding Protein 2) is a Protein Coding gene. Diseases associated with CTTNBP2 include Actinomycosis and Weaver Syndrome. GO annotations related to this gene include SH3 domain binding. An important paralog of this gene is CTTNBP2NL.

UniProtKB/Swiss-Prot for CTTNBP2 Gene

  • Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, thus controls dendritic spinogenesis and dendritic spine maintenance.

Gene Wiki entry for CTTNBP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTTNBP2 Gene

Genomics for CTTNBP2 Gene

Regulatory Elements for CTTNBP2 Gene

Enhancers for CTTNBP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G117827 1.1 Ensembl ENCODE 22.6 +45.7 45687 2.0 PKNOX1 ZNF792 JUN INSM2 ZEB1 FOSL1 ZFHX2 CTBP1 GATA3 GATA2 CTTNBP2 LOC101929527 LOC105375469
GH07G117808 1.2 FANTOM5 Ensembl ENCODE 12.6 +65.4 65416 1.0 JUND ATF3 HNF4A EP300 SPI1 YY1 CTTNBP2 LOC101929527 LOC105375469
GH07G117809 0.7 ENCODE 18 +63.6 63572 2.3 MTA2 BHLHE40 TEAD4 BMI1 TBX21 ATF2 ETS1 BCL11A IKZF1 POU5F1 CTTNBP2 LOC101929527 LOC105375469
GH07G117773 1.1 Ensembl dbSUPER 10 +100.2 100238 1.0 HDGF BMI1 FEZF1 BCL11B ZNF316 RELB IKZF2 SCRT1 MCM3 MTA2 CTTNBP2 CAPZA2 CFTR LOC105375469 LOC101929527
GH07G118078 1.1 Ensembl ENCODE 9.8 -206.1 -206065 3.2 HDGF PKNOX1 ATF1 JUN RELA FOSL1 ZFHX2 GATA3 ZNF316 EGR1 LSM8 CTTNBP2 PIR57573 ENSG00000234826
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CTTNBP2 on UCSC Golden Path with GeneCards custom track

Promoters for CTTNBP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000217306 939 1600 ZSCAN4 RAD21 ZNF2 ZNF121 GLIS2 ZNF366 EGR2 SP3 ZEB2 ZNF398

Genomic Location for CTTNBP2 Gene

Chromosome:
7
Start:
117,710,648 bp from pter
End:
117,874,139 bp from pter
Size:
163,492 bases
Orientation:
Minus strand

Genomic View for CTTNBP2 Gene

Genes around CTTNBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTTNBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTTNBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTTNBP2 Gene

Proteins for CTTNBP2 Gene

  • Protein details for CTTNBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WZ74-CTTB2_HUMAN
    Recommended name:
    Cortactin-binding protein 2
    Protein Accession:
    Q8WZ74
    Secondary Accessions:
    • O43389
    • Q7LG11
    • Q9C0A5

    Protein attributes for CTTNBP2 Gene

    Size:
    1663 amino acids
    Molecular mass:
    181051 Da
    Quaternary structure:
    • Interacts with CTTN/cortactin SH3 domain. Interacts with STRN, STRN4/zinedin and MOB4/phocein; this interaction may regulate dendritic spine distribution of STRN and STRN4 in hippocampal neurons. Activation of glutamate receptors weakens the interaction with STRN and STRN4.

neXtProt entry for CTTNBP2 Gene

Post-translational modifications for CTTNBP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CTTNBP2 Gene

Domains & Families for CTTNBP2 Gene

Gene Families for CTTNBP2 Gene

Protein Domains for CTTNBP2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CTTNBP2: view

No data available for UniProtKB/Swiss-Prot for CTTNBP2 Gene

Function for CTTNBP2 Gene

Molecular function for CTTNBP2 Gene

UniProtKB/Swiss-Prot Function:
Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, thus controls dendritic spinogenesis and dendritic spine maintenance.

Gene Ontology (GO) - Molecular Function for CTTNBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with CTTNBP2: view
genes like me logo Genes that share phenotypes with CTTNBP2: view

Animal Models for CTTNBP2 Gene

MGI Knock Outs for CTTNBP2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CTTNBP2 Gene

Localization for CTTNBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTTNBP2 Gene

Cytoplasm, cell cortex. Cell projection, dendritic spine. Note=Remains associated with dendritic spines even after glutamate stimulation. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTTNBP2 gene
Compartment Confidence
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for CTTNBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005938 cell cortex IEA --
GO:0008021 synaptic vesicle IEA --
GO:0042995 cell projection IEA --
GO:0043197 dendritic spine IEA --
genes like me logo Genes that share ontologies with CTTNBP2: view

Pathways & Interactions for CTTNBP2 Gene

SuperPathways for CTTNBP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CTTNBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with CTTNBP2: view

No data available for Pathways by source and SIGNOR curated interactions for CTTNBP2 Gene

Transcripts for CTTNBP2 Gene

Unigene Clusters for CTTNBP2 Gene

Cortactin binding protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTTNBP2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^
SP1: - - - - -
SP2: -
SP3: - - -
SP4:
SP5: -
SP6:
SP7: - - -
SP8:

ExUns: 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for CTTNBP2 Gene

GeneLoc Exon Structure for
CTTNBP2
ECgene alternative splicing isoforms for
CTTNBP2

Expression for CTTNBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTTNBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CTTNBP2 Gene

This gene is overexpressed in Heart (14.9), Monocytes (13.6), Liver, secretome (13.1), Fetal Brain (8.4), Pancreatic juice (8.1), and Retina (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CTTNBP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of CTTNBP2 Gene:

CTTNBP2

SOURCE GeneReport for Unigene cluster for CTTNBP2 Gene:

Hs.592285

mRNA Expression by UniProt/SwissProt for CTTNBP2 Gene:

Q8WZ74-CTTB2_HUMAN
Tissue specificity: Highest expression in brain. Also expressed in kidney, pancreas, lung, heart, liver, skeletal muscle and placenta.

Evidence on tissue expression from TISSUES for CTTNBP2 Gene

  • Nervous system(2.6)
genes like me logo Genes that share expression patterns with CTTNBP2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTTNBP2 Gene

Orthologs for CTTNBP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CTTNBP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTTNBP2 34 35
  • 99.7 (n)
cow
(Bos Taurus)
Mammalia CTTNBP2 34 35
  • 90.2 (n)
dog
(Canis familiaris)
Mammalia CTTNBP2 34
  • 88.56 (n)
CORTBP2 35
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cttnbp2 34 16 35
  • 86.87 (n)
rat
(Rattus norvegicus)
Mammalia Cttnbp2 34
  • 86.87 (n)
oppossum
(Monodelphis domestica)
Mammalia CTTNBP2 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTTNBP2 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTTNBP2 34
  • 76.95 (n)
CORTBP2 35
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTTNBP2 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cttnbp2 34
  • 67.04 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23884 34
zebrafish
(Danio rerio)
Actinopterygii cttnbp2 34 35
  • 58.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10915 35
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C49H3.6 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
OneToMany
Species where no ortholog for CTTNBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTTNBP2 Gene

ENSEMBL:
Gene Tree for CTTNBP2 (if available)
TreeFam:
Gene Tree for CTTNBP2 (if available)

Paralogs for CTTNBP2 Gene

Paralogs for CTTNBP2 Gene

genes like me logo Genes that share paralogs with CTTNBP2: view

Variants for CTTNBP2 Gene

Sequence variations from dbSNP and Humsavar for CTTNBP2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs144920028 Uncertain significance 117,760,494(+) TGTTA(C/T)TGCAA nc-transcript-variant, downstream-variant-500B, reference, missense
rs750789291 Uncertain significance 117,734,966(+) GGGCT(C/T)GCCAT nc-transcript-variant, downstream-variant-500B, reference, missense
rs1000015175 -- 117,826,673(+) CAACA(C/G/T)TTGTG intron-variant
rs1000018254 -- 117,869,189(+) AGCTT(A/G)GAAAG intron-variant
rs1000025691 -- 117,737,212(+) TTCAA(A/G)TGTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CTTNBP2 Gene

Variant ID Type Subtype PubMed ID
dgv1954e212 CNV loss 25503493
esv1000466 CNV deletion 20482838
esv1717444 CNV insertion 17803354
esv2533512 CNV insertion 19546169
esv2735065 CNV deletion 23290073
esv2735066 CNV deletion 23290073
esv3306090 CNV mobile element insertion 20981092
esv3307730 CNV mobile element insertion 20981092
esv3309785 CNV mobile element insertion 20981092
esv3381883 CNV insertion 20981092
esv3398025 CNV insertion 20981092
esv3405343 CNV insertion 20981092
esv3415000 CNV insertion 20981092
esv3439740 CNV insertion 20981092
esv3614721 CNV gain 21293372
nsv1116570 OTHER inversion 24896259
nsv1137283 CNV deletion 24896259
nsv366401 CNV deletion 16902084
nsv464695 CNV loss 19166990
nsv476472 CNV novel sequence insertion 20440878
nsv477410 CNV novel sequence insertion 20440878
nsv5918 CNV insertion 18451855
nsv608258 CNV loss 21841781
nsv608259 CNV gain 21841781
nsv7405 OTHER inversion 18451855

Variation tolerance for CTTNBP2 Gene

Residual Variation Intolerance Score: 14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.36; 63.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTTNBP2 Gene

Human Gene Mutation Database (HGMD)
CTTNBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTTNBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTTNBP2 Gene

Disorders for CTTNBP2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CTTNBP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
actinomycosis
  • actinomycetoma
weaver syndrome
  • weaver-like syndrome
inclusion conjunctivitis
  • adult inclusion conjunctivitis
alzheimer's disease 7
  • ad7
chickenpox
  • varicella
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CTTNBP2

Genetic Association Database (GAD)
CTTNBP2
Human Genome Epidemiology (HuGE) Navigator
CTTNBP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTTNBP2
genes like me logo Genes that share disorders with CTTNBP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTTNBP2 Gene

Publications for CTTNBP2 Gene

  1. Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. (PMID: 11707066) Cheung J. … Scherer S.W. (Genomics 2001) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. A PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) protein. (PMID: 18782753) Goudreault M. … Gingras A.C. (Mol. Cell. Proteomics 2009) 3 22 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 64

Products for CTTNBP2 Gene

Sources for CTTNBP2 Gene

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