ANKRD17

Ankyrin repeat domain-containing protein 17 is a protein that in humans is encoded by the ANKRD17 gene.[5][6]

ANKRD17
Identifiers
AliasesANKRD17, GTAR, NY-BR-16, MASK2, ankyrin repeat domain 17, CAGS
External IDsOMIM: 615929 MGI: 1932101 HomoloGene: 82403 GeneCards: ANKRD17
Orthologs
SpeciesHumanMouse
Entrez

26057

81702

Ensembl

ENSG00000132466

ENSMUSG00000055204

UniProt

O75179

Q99NH0

RefSeq (mRNA)

NM_001286771
NM_032217
NM_198889
NM_015574

NM_030886
NM_198010
NM_001401341

RefSeq (protein)

NP_001273700
NP_056389
NP_115593
NP_942592

NP_112148
NP_932127
NP_001388270

Location (UCSC)Chr 4: 73.07 – 73.26 MbChr 5: 90.38 – 90.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene.[6]

De novo mutations to ANKRD17 are known to cause Chopra-Amiel-Gordon syndrome.[7] Genetic analysis of individuals with CAGS suggests that the disorder follows the haploinsufficiency model of gene action.[8]

References

  1. GRCh38: Ensembl release 89: ENSG00000132466 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000055204 - 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. Watt AJ, Jones EA, Ure JM, Peddie D, Wilson DI, Forrester LM (February 2001). "A gene trap integration provides an early in situ marker for hepatic specification of the foregut endoderm". Mechanisms of Development. 100 (2): 205–215. doi:10.1016/S0925-4773(00)00530-X. PMID 11165478. S2CID 18601209.
  6. "Entrez Gene: ANKRD17 ankyrin repeat domain 17".
  7. "CHOPRA-AMIEL-GORDON SYNDROME; CAGS". www.omim.org. Retrieved 2022-12-06.
  8. Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, et al. (June 2021). "Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism". American Journal of Human Genetics. 108 (6): 1138–1150. doi:10.1016/j.ajhg.2021.04.007. PMC 8206162. PMID 33909992.

Further reading


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