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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
  • 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 weaver syndrome and cavernous malformation. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTTNBP2 Gene

Genomics for CTTNBP2 Gene

Regulatory Elements for CTTNBP2 Gene

Promoters for CTTNBP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CTTNBP2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for CTTNBP2 Gene at MOPED

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

Q8WZ74

UniProtKB/Swiss-Prot:

CTTB2_HUMAN :
  • Contains 6 ANK repeats.
Similarity:
  • Contains 6 ANK repeats.
genes like me logo Genes that share domains with CTTNBP2: view

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.
genes like me logo Genes that share phenotypes with CTTNBP2: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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
Jensen Localization Image for CTTNBP2 Gene COMPARTMENTS Subcellular localization image for CTTNBP2 gene
Compartment Confidence
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for CTTNBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

None

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:

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 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, MOPED, and MaxQB for CTTNBP2 Gene



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.
genes like me logo Genes that share expression patterns with CTTNBP2: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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 35
  • 99.7 (n)
  • 99.52 (a)
CTTNBP2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CTTNBP2 35
  • 90.2 (n)
  • 89.57 (a)
CTTNBP2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTTNBP2 35
  • 88.56 (n)
  • 88.37 (a)
CORTBP2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cttnbp2 16
Cttnbp2 36
  • 86 (a)
OneToOne
Cttnbp2 35
  • 86.87 (n)
  • 85.97 (a)
oppossum
(Monodelphis domestica)
Mammalia CTTNBP2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTTNBP2 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cttnbp2 35
  • 86.87 (n)
  • 85.67 (a)
chicken
(Gallus gallus)
Aves CORTBP2 36
  • 73 (a)
OneToOne
CTTNBP2 35
  • 76.95 (n)
  • 73.83 (a)
lizard
(Anolis carolinensis)
Reptilia CTTNBP2 36
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23884 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cttnbp2 35
  • 67.04 (n)
  • 61.19 (a)
zebrafish
(Danio rerio)
Actinopterygii cttnbp2 36
  • 48 (a)
OneToOne
cttnbp2 35
  • 58.17 (n)
  • 51.72 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10915 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C49H3.6 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for CTTNBP2:
  • 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
rs757278 -- 117,737,591(+) TTTTT(G/T)GAGAT intron-variant
rs719883 -- 117,736,999(+) TCCTT(A/G)AACAC intron-variant
rs763940 -- 117,766,970(+) GGACA(G/T)GCAAA intron-variant
rs929667 -- 117,796,926(+) ATAAC(C/G)CCTTG intron-variant
rs929668 -- 117,805,610(+) CCTTA(A/G)GCTCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7405 OTHER Inversion 18451855
nsv464695 CNV Loss 19166990
esv2533512 CNV Insertion 19546169
esv274057 CNV Insertion 20981092
esv272004 CNV Insertion 20981092
esv2735065 CNV Deletion 23290073
esv2735066 CNV Deletion 23290073
esv270367 CNV Insertion 20981092
esv1000466 CNV Deletion 20482838
nsv366401 CNV Loss 16902084
nsv5918 CNV Insertion 18451855
esv1717444 CNV Insertion 17803354

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

HapMap Linkage Disequilibrium report
CTTNBP2
Human Gene Mutation Database (HGMD)
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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
weaver syndrome
  • weaver-like syndrome
cavernous malformation
- 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 23 67
  2. 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 23
  3. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. (PMID: 24709693) Cobb J. … Thomson W. (Pharmacogenomics J. 2014) 3

Products for CTTNBP2 Gene

Sources for CTTNBP2 Gene

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