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ANKRD17

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
ANKRD17
Identifiers
AliasesANKRD17, GTAR, NY-BR-16, MASK2, ankyrin repeat domain 17, CAGS
External IDsOMIM:615929;MGI:1932101;HomoloGene:82403;GeneCards:ANKRD17;OMA:ANKRD17 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for ANKRD17
Genomic location for ANKRD17
Band4q13.3Start73,073,376bp[1]
End73,258,798bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for ANKRD17
Genomic location for ANKRD17
Band5|5 E1Start90,375,025bp[2]
End90,514,436bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • sural nerve

  • visceral pleura

  • parietal pleura

  • middle temporal gyrus

  • lateral nuclear group of thalamus

  • Brodmann area 23

  • internal globus pallidus

  • cardia

  • pylorus
Top expressed in
  • zygote

  • secondary oocyte

  • primary oocyte

  • Rostral migratory stream

  • saccule

  • Gonadal ridge

  • lacrimal gland

  • human fetus

  • dorsomedial hypothalamic nucleus

  • efferent ductule
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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

Ankyrin repeat domain-containing protein 17 is aprotein that in humans is encoded by theANKRD17gene.[5][6]

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 causeChopra-Amiel-Gordon syndrome.[7] Genetic analysis of individuals with CAGS suggests that the disorder follows thehaploinsufficiency model of gene action.[8]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000132466Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000055204Ensembl, 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. ^ab"Entrez Gene: ANKRD17 ankyrin repeat domain 17".
  7. ^"CHOPRA-AMIEL-GORDON SYNDROME; CAGS".www.omim.org. Retrieved2022-12-06.
  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.

External links

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Further reading

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