ANKRD17

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

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)[1] Band 4q13.3 Start 73,073,376 bp[1] End 73,258,798 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 E1 Start 90,375,025 bp[2] End 90,514,436 bp[2]
RNA expression pattern Bgee Human Mouse (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 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 Species Human Mouse 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 Mb Chr 5: 90.38 – 90.51 Mb PubMed search [3] [4]
Wikidata
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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]