CTTNBP2: Difference between revisions

CTTNBP2
Identifiers
Aliases	CTTNBP2, C7orf8, CORTBP2, Orf4, cortactin binding protein 2
External IDs	OMIM: 609772; MGI: 1353467; HomoloGene: 14125; GeneCards: CTTNBP2; OMA:CTTNBP2 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	117,874,139 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	18,514,842 bp
RNA expression pattern
	Top expressed in
	corpus callosum; ; ganglionic eminence; ; subthalamic nucleus; ; inferior ganglion of vagus nerve; ; pars reticulata; ; lateral nuclear group of thalamus; ; primary visual cortex; ; endothelial cell; ; external globus pallidus; ; C1 segment;
	Top expressed in
	lateral septal nucleus; ; subiculum; ; lateral geniculate nucleus; ; piriform cortex; ; medial geniculate nucleus; ; superior cervical ganglion; ; medial dorsal nucleus; ; olfactory tubercle; ; visual cortex; ; anterior amygdaloid area;
	More reference expression data
	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

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Latest revision as of 10:31, 13 January 2024

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:

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000077063 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b "Entrez Gene: CTTNBP2 cortactin binding protein 2".
^ ^a ^b ^c ^d ^e 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.

External links

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

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. S2CID 22413036.
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.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000077063 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000000416 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11707066-5] 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-6] "Entrez Gene: CTTNBP2 cortactin binding protein 2".

[pmid18782753-7] 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.

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@@ Line 1: / Line 1: @@
 {{Short description|Protein-coding gene in the species Homo sapiens}}
+{{cs1 config|name-list-style=vanc}}
 {{Infobox_gene}}
 '''Cortactin-binding protein 2''' is a [[protein]] that in humans is encoded by the ''CTTNBP2'' [[gene]].<ref name="pmid11707066">{{cite journal | vauthors = Cheung J, Petek E, Nakabayashi K, Tsui LC, Vincent JB, Scherer SW | title = Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31 | journal = Genomics | volume = 78 | issue = 1–2 | pages = 7–11  | date = Nov 2001 | pmid = 11707066 | doi = 10.1006/geno.2001.6651 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CTTNBP2 cortactin binding protein 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83992}}</ref>
@@ Line 12: / Line 13: @@
 * [[MOBKL3]],<ref name = pmid18782753/>
 * [[PPP2CA]],<ref name = pmid18782753/>
-* [[RP6-213H19.1]],<ref name = pmid18782753>{{cite journal | vauthors = 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 | title = 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 | journal = Mol. Cell. Proteomics | volume = 8 | issue = 1 | pages = 157–71  | date = Jan 2009 | pmid = 18782753 | pmc = 2621004 | doi = 10.1074/mcp.M800266-MCP200 }}</ref>
+* [[RP6-213H19.1]],<ref name = pmid18782753>{{cite journal | vauthors = 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 | title = 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 | journal = Mol. Cell. Proteomics | volume = 8 | issue = 1 | pages = 157–71  | date = Jan 2009 | pmid = 18782753 | pmc = 2621004 | doi = 10.1074/mcp.M800266-MCP200 | doi-access = free }}</ref>
 * [[STRN3]],<ref name = pmid18782753/>  and
 * [[STRN]].<ref name = pmid18782753/>
-==Model organisms==
-[[Model organism]]s have been used in the study of CTTNBP2 function. A conditional [[knockout mouse]] line called ''Cttnbp2<sup>tm1b(KOMP)Wtsi</sup>'' was generated at the [[Wellcome Trust Sanger Institute]].<ref name="mgp_reference">{{cite journal |title=The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice |author=Gerdin AK |year=2010 |doi=10.1111/j.1755-3768.2010.4142.x |volume=88 |journal=Acta Ophthalmologica|s2cid=85911512 }}</ref> Male and female animals underwent a standardized [[phenotypic screen]]<ref name="IMPCsearch_ref">{{cite web |url=http://www.mousephenotype.org/data/search?q=Cttnbp2#fq=*:*&facet=gene |title=International Mouse Phenotyping Consortium}}</ref> to determine the effects of deletion.<ref name="pmid21677750">{{cite journal | vauthors = 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 | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}</ref><ref name="mouse_library">{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a | doi-access = free }}</ref><ref name="mouse_for_all_reasons">{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 | s2cid = 18872015 | doi-access = free }}</ref><ref name="pmid23870131">{{cite journal | vauthors = 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 | title = Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes | journal = Cell | volume = 154 | issue = 2 | pages = 452–64 | year = 2013 | pmid = 23870131 | doi = 10.1016/j.cell.2013.06.022 | pmc=3717207}}</ref> Additional screens performed:  - In-depth immunological phenotyping<ref name="iii_ref">{{cite web |url= http://www.immunophenotyping.org/data/search?keys=Cttnbp2&field_gene_construct_tid=All |title=Infection and Immunity Immunophenotyping (3i) Consortium}}</ref>
-{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: left;" |
-|+ ''Cttnbp2'' knockout mouse phenotype
-|-
-! Characteristic!! Phenotype
-|-
-| colspan=2; style="text-align: center;" | All data available at.<ref name="IMPCsearch_ref"/><ref name="iii_ref" />
-|-
-| Peripheral blood leukocytes 6 Weeks || bgcolor="#488ED3"|Normal
-|-
-| ''[[Haematology]]'' 6 Weeks || bgcolor="#488ED3"|Normal
-|-
-| Homozygous viability at P14 || bgcolor="#488ED3"|Normal
-|-
-| Homozygous Fertility || bgcolor="#488ED3"|Normal
-|-
-| Body weight || bgcolor="#488ED3"|Normal
-|-
-| Neurological assessment || bgcolor="#488ED3"|Normal
-|-
-| Grip strength || bgcolor="#488ED3"|Normal
-|-
-| [[Dysmorphology]] || bgcolor="#488ED3"|Normal
-|-
-| [[Indirect calorimetry]] || bgcolor="#488ED3"|Normal
-|-
-| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal
-|-
-| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal
-|-
-| [[Dual-energy X-ray absorptiometry|DEXA]] || bgcolor="#C40000"|Abnormal
-|-
-| [[Radiography]] || bgcolor="#488ED3"|Normal
-|-
-| Eye morphology || bgcolor="#488ED3"|Normal
-|-
-| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal
-|-
-| ''[[Haematology]]'' 16 Weeks || bgcolor="#488ED3"|Normal
-|-
-| Peripheral blood leukocytes 16 Weeks || bgcolor="#488ED3"|Normal
-|-
-| Heart weight || bgcolor="#488ED3"|Normal
-|-
-| ''[[Salmonella]]'' infection || bgcolor="#488ED3"|Normal
-|-
-| Cytotoxic T Cell Function || bgcolor="#488ED3"|Normal
-|-
-| Spleen Immunophenotyping || bgcolor="#488ED3"|Normal
-|-
-| Mesenteric Lymph Node Immunophenotyping || bgcolor="#488ED3"|Normal
-|-
-| Bone Marrow Immunophenotyping || bgcolor="#488ED3"|Normal
-|-
-| Epidermal Immune Composition || bgcolor="#488ED3"|Normal
-|-
-| Trichuris Challenge || bgcolor="#488ED3"|Normal
-|-
-|}
 ==References==

Latest revision as of 10:31, 13 January 2024

Function

Interactions

References

External links

Further reading