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Aliases for CTTNBP2 Gene

Aliases for CTTNBP2 Gene

  • Cortactin Binding Protein 2 2 3 5
  • CORTBP2, C7orf8 2 3
  • CORTBP2 3 4
  • C7orf8 3 4
  • Cortactin-Binding Protein 2 3
  • KIAA1758 4
  • CortBP2 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 Inclusion Conjunctivitis. Gene Ontology (GO) annotations related to this gene include SH3 domain binding. An important paralog of this gene is NAV2.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for CTTNBP2 Gene

Promoters and enhancers for CTTNBP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J117871 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 661.7 +1.3 1340 2.7 SIN3A ZNF2 ZNF121 GLIS2 KLF13 SP3 MCM5 CBX8 GLIS1 PRDM4 CTTNBP2 LSM8 LOC105375469
GH07J117875 Enhancer 0.5 ENCODE 650.7 -1.6 -1603 0.2 OSR2 CTCF ZNF143 RAD21 CTTNBP2 ENSG00000224136
GH07J117827 Enhancer 1 Ensembl ENCODE 22.6 +45.7 45687 2 PKNOX1 INSM2 MZF1 ZEB1 ZSCAN5C FOS EGR2 OVOL3 ZEB2 TSHZ1 CTTNBP2 LOC105375469
GH07J117808 Enhancer 1 FANTOM5 Ensembl ENCODE 12.6 +65.4 65415 1 FOXA2 RXRA YY1 SP1 JUND POLR2A ATF3 HNF4A SPI1 CTTNBP2 LOC105375469
GH07J117809 Enhancer 0.5 ENCODE 18 +63.6 63572 2.3 SP1 NANOG IKZF1 ATF7 BMI1 BATF ETS1 CTTNBP2 LOC105375469
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CTTNBP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTTNBP2 gene promoter:

Genomic Locations for CTTNBP2 Gene

Genomic Locations for CTTNBP2 Gene
chr7:117,710,648-117,874,139
(GRCh38/hg38)
Size:
163,492 bases
Orientation:
Minus strand
chr7:117,350,705-117,514,193
(GRCh37/hg19)

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

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for CTTNBP2 Gene

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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Midbody ring (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTTNBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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

Drugs & Compounds for CTTNBP2 Gene

No Compound Related Data Available

Transcripts for CTTNBP2 Gene

Unigene Clusters for CTTNBP2 Gene

Cortactin binding protein 2:
Representative Sequences:

Clone 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, 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

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 33
  • 99.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CTTNBP2 34 33
  • 90.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CTTNBP2 33
  • 88.56 (n)
CORTBP2 34
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cttnbp2 16 34 33
  • 86.87 (n)
rat
(Rattus norvegicus)
Mammalia Cttnbp2 33
  • 86.87 (n)
oppossum
(Monodelphis domestica)
Mammalia CTTNBP2 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTTNBP2 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTTNBP2 33
  • 76.95 (n)
CORTBP2 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTTNBP2 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cttnbp2 33
  • 67.04 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23884 33
zebrafish
(Danio rerio)
Actinopterygii cttnbp2 34 33
  • 58.17 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10915 34
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C49H3.6 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CTTNBP2: view image

Paralogs for CTTNBP2 Gene

Paralogs for CTTNBP2 Gene

(3) SIMAP similar genes for CTTNBP2 Gene using alignment to 14 proteins:

  • CTTB2_HUMAN
  • C9J720_HUMAN
  • C9JFC9_HUMAN
  • C9JVQ6_HUMAN
  • F8WB16_HUMAN
  • H0Y448_HUMAN
  • H7BZH0_HUMAN
  • H7C0N3_HUMAN
  • H7C2I0_HUMAN
  • Q20BG7_HUMAN
  • Q20BG9_HUMAN
  • Q20BI7_HUMAN
  • Q2I096_HUMAN
  • Q2I0A6_HUMAN
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 Variation AA Info Type
rs750789291 uncertain-significance, Malignant tumor of prostate 117,734,966(-) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs144920028 uncertain-significance, not specified 117,760,494(-) T/A/C coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000015175 -- 117,826,673(-) C/G/T genic_upstream_transcript_variant, intron_variant
rs1000018254 -- 117,869,189(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000025691 -- 117,737,212(-) A/G genic_downstream_transcript_variant, 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)

Additional Variant Information 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

(2) MalaCards diseases for CTTNBP2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
actinomycosis
  • actinomycetoma
inclusion conjunctivitis
  • adult inclusion conjunctivitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CTTNBP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SW (Genomics 2001) 2 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  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 AC (Molecular & cellular proteomics : MCP 2009) 3 22 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58

Products for CTTNBP2 Gene

Sources for CTTNBP2 Gene

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