CTTNBP2

CTTNBP2
Identifiers
Aliases	CTTNBP2, C7orf8, CORTBP2, Orf4, cortactin binding protein 2
External IDs	OMIM: 609772 MGI: 1353467 HomoloGene: 14125 GeneCards: CTTNBP2
Gene location (Human)
Chr.	Chromosome 7 (human)[1]
End	117,874,139 bp[1]
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)[2]
End	18,514,843 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• SH3 domain binding;
Cellular component	• cytoplasm; • dendritic spine; • cell projection; • cell cortex; • synaptic vesicle; • postsynaptic actin cytoskeleton; • glutamatergic synapse;
Biological process	• brain development; • regulation of synapse organization; • regulation of modification of postsynaptic actin cytoskeleton;
	Sources:Amigo / QuickGO
Orthologs
	83992
	30785
	ENSG00000077063
	ENSMUSG00000000416
	Q8WZ74
	B9EJA2
	NM_033427; NM_001363349; NM_001363350; NM_001363351
	NM_080285
	NP_219499; NP_001350278; NP_001350279; NP_001350280
	NP_525024
	Wikidata
View/Edit Human	View/Edit Mouse

Cortactin-binding protein 2 is a protein that in humans is encoded by the CTTNBP2 gene.[5][6]

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.[6]

Interactions

CTTNBP2 has been shown to interact with:

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.[8] Male and female animals underwent a standardized phenotypic screen[9] to determine the effects of deletion.[10][11][12][13] Additional screens performed: - In-depth immunological phenotyping[14]

*Cttnbp2* knockout mouse phenotype
Characteristic	Phenotype
All data available at.[9][14]
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

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References

GRCh38: Ensembl release 89: ENSG00000077063 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000000416 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"Entrez Gene: CTTNBP2 cortactin binding protein 2".
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.
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.
"International Mouse Phenotyping Consortium".
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.
Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
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.
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.
"Infection and Immunity Immunophenotyping (3i) Consortium".

External links

Human CTTNBP2 genome location and CTTNBP2 gene details page in the UCSC Genome Browser.