Movatterモバイル変換


[0]ホーム

URL:


Jump to content
WikipediaThe Free Encyclopedia
Search

PCDHGA12

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
PCDHGA12
Identifiers
AliasesPCDHGA12, CDH21, FIB3, PCDH-GAMMA-A12, protocadherin gamma subfamily A, 12
External IDsOMIM:603059;MGI:1935229;HomoloGene:134588;GeneCards:PCDHGA12;OMA:PCDHGA12 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for PCDHGA12
Genomic location for PCDHGA12
Band5q31.3Start141,430,507bp[1]
End141,512,975bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for PCDHGA12
Genomic location for PCDHGA12
Band18|18 B3Start37,898,633bp[2]
End37,974,926bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • stromal cell of endometrium

  • gonad

  • caudate nucleus

  • right coronary artery

  • amygdala

  • nucleus accumbens

  • left adrenal gland

  • right lung

  • left adrenal cortex

  • gallbladder
Top expressed in
  • Meckel's cartilage

  • humerus

  • occiput

  • occipital bone

  • chondrocranium

  • temporal bone

  • lower leg

  • dental papilla

  • ganglionic eminence

  • sphenoid bone
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

26025

93724

Ensembl

ENSG00000253159

ENSMUSG00000102428

UniProt

O60330

Q91XY7

RefSeq (mRNA)

NM_032094
NM_003735

NM_033595

RefSeq (protein)

NP_003726
NP_115265

NP_291073

Location (UCSC)Chr 5: 141.43 – 141.51 MbChr 18: 37.9 – 37.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin gamma-A12 is aprotein that in humans is encoded by thePCDHGA12gene.[5][6]

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked onchromosome five. These gene clusters have animmunoglobulin-like organization, suggesting that a novel mechanism may be involved in theirregulation andexpression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable regionexon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neuralcadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes.[6]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000253159Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000102428Ensembl, 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. ^Wu Q, Maniatis T (Jul 1999)."A striking organization of a large family of human neural cadherin-like cell adhesion genes".Cell.97 (6):779–90.doi:10.1016/S0092-8674(00)80789-8.PMID 10380929.S2CID 6014717.
  6. ^ab"Entrez Gene: PCDHGA12 protocadherin gamma subfamily A, 12".

Further reading

[edit]
Retrieved from "https://en.wikipedia.org/w/index.php?title=PCDHGA12&oldid=1300846108"
Category:
Hidden categories:

[8]ページ先頭

©2009-2025 Movatter.jp