ANKRD17

ANKRD17
Identifiers
Aliases	ANKRD17, GTAR, NY-BR-16, MASK2, ankyrin repeat domain 17, CAGS
External IDs	OMIM: 615929; MGI: 1932101; HomoloGene: 82403; GeneCards: ANKRD17; OMA:ANKRD17 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	73,258,798 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	90,514,436 bp
RNA expression pattern
	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
	More reference expression data
Gene ontology
Molecular function	nucleic acid binding; chromatin binding; protein binding; RNA binding;
Cellular component	cytoplasm; chromatin; membrane; nucleus; nuclear membrane;
Biological process	positive regulation of I-kappaB kinase/NF-kappaB signaling; positive regulation of G1/S transition of mitotic cell cycle; innate immune response; viral process; positive regulation of cell cycle; positive regulation of RIG-I signaling pathway; defense response to bacterium; positive regulation of MDA-5 signaling pathway; negative regulation of smooth muscle cell differentiation; regulation of DNA replication; immune system process; blood vessel maturation;
	Sources:Amigo / QuickGO
Orthologs
	26057
	81702
	ENSG00000132466
	ENSMUSG00000055204
	O75179
	Q99NH0
	NM_001286771; NM_032217; NM_198889; NM_015574
	NM_030886; NM_198010; NM_001401341
	NP_001273700; NP_056389; NP_115593; NP_942592
	NP_112148; NP_932127; NP_001388270
	Wikidata
View/Edit Human	View/Edit Mouse

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

AliasesANKRD17, GTAR, NY-BR-16, MASK2, ankyrin repeat domain 17, CAGS

External IDsOMIM: 615929; MGI: 1932101; HomoloGene: 82403; GeneCards: ANKRD17; OMA:ANKRD17 - orthologs

Chr.Chromosome 4 (human)^[1]

End73,258,798 bp^[1]

Quick facts Identifiers, Aliases ...

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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]

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ANKRD17

References

External links

Further reading

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