CC2D1A

CC2D1A
Identifiers
Aliases	CC2D1A, FREUD-1, Freud-1/Aki1, MRT3, coiled-coil and C2 domain containing 1A
External IDs	OMIM: 610055; MGI: 2384831; GeneCards: CC2D1A
Gene location (Human)
Chr.	Chromosome 19 (human)
End	13,930,879 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	84,874,565 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; mucosa of transverse colon; ; right frontal lobe; ; pituitary gland; ; hypothalamus; ; right uterine tube; ; primary visual cortex; ; anterior pituitary; ; duodenum; ; anterior cingulate cortex;
	Top expressed in
	saccule; ; internal carotid artery; ; otic vesicle; ; external carotid artery; ; lip; ; primary oocyte; ; zygote; ; granulocyte; ; otic placode; ; dentate gyrus of hippocampal formation granule cell;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; protein binding; signal transducer activity; cadherin binding;
Cellular component	cytoplasm; extracellular exosome; cytoskeleton; nucleus; membrane; microtubule organizing center; fibrillar center; cytosol; plasma membrane;
Biological process	positive regulation of I-kappaB kinase/NF-kappaB signaling; regulation of transcription, DNA-templated; negative regulation of transcription by RNA polymerase II; transcription, DNA-templated; signal transduction;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	54862
	212139
	ENSG00000132024
	ENSMUSG00000036686
	Q6P1N0
	Q8K1A6
	NM_017721
	NM_145970; NM_001381871; NM_001381872; NM_001381873
	NP_060191
	NP_666082; NP_001368800; NP_001368801; NP_001368802
	Wikidata
View/Edit Human	View/Edit Mouse

Coiled-coil and C2 domain-containing protein 1A is a protein that in humans is encoded by the CC2D1A gene.^[5]^[6]^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000132024 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036686 – 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.
^ Matsuda A, Suzuki Y, Honda G, Muramatsu S, Matsuzaki O, Nagano Y, Doi T, Shimotohno K, Harada T, Nishida E, Hayashi H, Sugano S (May 2003). "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways". Oncogene. 22 (21): 3307–18. doi:10.1038/sj.onc.1206406. PMID 12761501.
^ Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M (Mar 2006). "The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation". J Med Genet. 43 (3): 203–10. doi:10.1136/jmg.2005.035709. PMC 2563235. PMID 16033914.
^ "Entrez Gene: CC2D1A coiled-coil and C2 domain containing 1A".

External links

Human CC2D1A genome location and CC2D1A gene details page in the UCSC Genome Browser.

Albert PR, Lemonde S (2005). "5-HT1A receptors, gene repression, and depression: guilt by association". The Neuroscientist. 10 (6): 575–93. doi:10.1177/1073858404267382. PMID 15534042. S2CID 30402944.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Basel-Vanagaite L, Alkelai A, Straussberg R, et al. (2003). "Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity". J. Med. Genet. 40 (10): 729–32. doi:10.1136/jmg.40.10.729. PMC 1735276. PMID 14569116.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Lemonde S, Rogaeva A, Albert PR (2004). "Cell type-dependent recruitment of trichostatin A-sensitive repression of the human 5-HT1A receptor gene". J. Neurochem. 88 (4): 857–68. doi:10.1046/j.1471-4159.2003.02223.x. PMID 14756806. S2CID 37176837.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID 15592455. S2CID 7200157.
Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
Rogaeva A, Ou XM, Jafar-Nejad H, et al. (2007). "Differential repression by freud-1/CC2D1A at a polymorphic site in the dopamine-D2 receptor gene". J. Biol. Chem. 282 (29): 20897–905. doi:10.1074/jbc.M610038200. PMID 17535813.
Rogaeva A, Albert PR (2007). "The mental retardation gene CC2D1A/Freud-1 encodes a long isoform that binds conserved DNA elements to repress gene transcription". Eur. J. Neurosci. 26 (4): 965–74. doi:10.1111/j.1460-9568.2007.05727.x. PMID 17714190. S2CID 29590846.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000132024 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036686 – 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.

[pmid12761501-5] Matsuda A, Suzuki Y, Honda G, Muramatsu S, Matsuzaki O, Nagano Y, Doi T, Shimotohno K, Harada T, Nishida E, Hayashi H, Sugano S (May 2003). "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways". Oncogene. 22 (21): 3307–18. doi:10.1038/sj.onc.1206406. PMID 12761501.

[pmid16033914-6] Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M (Mar 2006). "The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation". J Med Genet. 43 (3): 203–10. doi:10.1136/jmg.2005.035709. PMC 2563235. PMID 16033914.

[entrez-7] "Entrez Gene: CC2D1A coiled-coil and C2 domain containing 1A".

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CC2D1A

References

External links

Further reading

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