CC2D1A

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

CC2D1A
Identifiers
AliasesCC2D1A, FREUD-1, Freud-1/Aki1, MRT3, coiled-coil and C2 domain containing 1A
External IDsOMIM: 610055 MGI: 2384831 HomoloGene: 23040 GeneCards: CC2D1A
Gene location (Human)
Chr.Chromosome 19 (human)[1]
Band19p13.12Start13,906,201 bp[1]
End13,930,879 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

54862

212139

Ensembl

ENSG00000132024

ENSMUSG00000036686

UniProt

Q6P1N0

Q8K1A6

RefSeq (mRNA)

NM_017721

NM_145970

RefSeq (protein)

NP_060191

NP_666082

Location (UCSC)Chr 19: 13.91 – 13.93 MbChr 8: 84.13 – 84.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse


References

  1. GRCh38: Ensembl release 89: ENSG00000132024 - Ensembl, May 2017
  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.
  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.
  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.
  7. "Entrez Gene: CC2D1A coiled-coil and C2 domain containing 1A".

Further reading


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