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.

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.

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