CTTNBP2

Cortactin binding protein 2
Identifiers
Symbols	CTTNBP2 ; C7orf8; CORTBP2; Orf4
External IDs	OMIM: 609772 MGI: 1353467 HomoloGene: 14125 GeneCards: CTTNBP2 Gene
Gene ontology Molecular function • SH3 domain binding Cellular component • cell cortex • synaptic vesicle • dendritic spine Biological process • brain development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	83992	30785
Ensembl	ENSG00000077063	ENSMUSG00000000416
UniProt	Q8WZ74	B9EJA2
RefSeq (mRNA)	NM_033427	NM_080285
RefSeq (protein)	NP_219499	NP_525024
Location (UCSC)	Chr 7: 117.71 – 117.87 Mb	Chr 6: 18.37 – 18.51 Mb
PubMed search

Cortactin-binding protein 2 is a protein that in humans is encoded by the CTTNBP2 gene.^[1][2]

Function

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.^[2]

Interactions

CTTNBP2 has been shown to interact with:

• MOBKL3,^[3]
• PPP2CA,^[3]
• RP6-213H19.1,^[3]
• STRN3,^[3] and
• STRN.^[3]

Model organisms

Model organisms have been used in the study of CTTNBP2 function. A conditional knockout mouse line called Cttnbp2^{tm1b(KOMP)Wtsi} was generated at the Wellcome Trust Sanger Institute.^[4] Male and female animals underwent a standardized phenotypic screen^[5] to determine the effects of deletion.^[6][7][8][9] Additional screens performed: - In-depth immunological phenotyping^[10]

Cttnbp2 knockout mouse phenotype

Characteristic	Phenotype
All data available at.[5][10]
Peripheral blood leukocytes 6 Weeks	Normal
Haematology 6 Weeks	Normal
Homozygous viability at P14	Normal
Homozygous Fertility	Normal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Abnormal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal
Trichuris Challenge	Normal

References

1. Cheung J, Petek E, Nakabayashi K, Tsui LC, Vincent JB, Scherer SW (Nov 2001). "Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31". Genomics 78 (1-2): 7–11. doi:10.1006/geno.2001.6651. PMID 11707066.
2. "Entrez Gene: CTTNBP2 cortactin binding protein 2".
3. Goudreault M, D'Ambrosio LM, Kean MJ, Mullin MJ, Larsen BG, Sanchez A, Chaudhry S, Chen GI, Sicheri F, Nesvizhskii AI, Aebersold R, Raught B, Gingras AC (Jan 2009). "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". Mol. Cell Proteomics 8 (1): 157–71. doi:10.1074/mcp.M800266-MCP200. PMC 2621004. PMID 18782753.
4. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica 88. doi:10.1111/j.1755-3768.2010.4142.x.
5. "International Mouse Phenotyping Consortium".
6. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
7. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
8. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
9. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
10. "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

• Ohoka Y, Takai Y (1998). "Isolation and characterization of cortactin isoforms and a novel cortactin-binding protein, CBP90". Genes Cells 3 (9): 603–12. doi:10.1046/j.1365-2443.1998.00216.x. PMID 9813110.
• Nagase T, Kikuno R, Hattori A, Kondo Y, Okumura K, Ohara O (2000). "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (6): 347–55. doi:10.1093/dnares/7.6.347. PMID 11214970.
• Zink D, Amaral MD, Englmann A, Lang S, Clarke LA, Rudolph C, Alt F, Luther K, Braz C, Sadoni N, Rosenecker J, Schindelhauer D (2004). "Transcription-dependent spatial arrangements of CFTR and adjacent genes in human cell nuclei". J. Cell Biol. 166 (6): 815–25. doi:10.1083/jcb.200404107. PMC 2172106. PMID 15364959.