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
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 Brodmann area 23 internal globus pallidus cardia pylorus retinal pigment epithelium Top expressed in secondary oocyte saccule lacrimal gland dorsomedial hypothalamic nucleus crypt of lieberkuhn of small intestine facial motor nucleus superior cervical ganglion otic placode hair follicle ventral tegmental area 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
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]}

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.

External links

• Human ANKRD17 genome location and ANKRD17 gene details page in the UCSC Genome Browser .

Further reading

• Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, et al. (June 1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 5 (3): 169–176. doi: 10.1093/dnares/5.3.169 . PMID   9734811.
• Jones EA, Tosh D, Wilson DI, Lindsay S, Forrester LM (January 2002). "Hepatic differentiation of murine embryonic stem cells". Experimental Cell Research. 272 (1): 15–22. doi:10.1006/excr.2001.5396. PMID   11740861.
• Scanlan MJ, Gout I, Gordon CM, Williamson B, Stockert E, Gure AO, et al. (March 2001). "Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression". Cancer Immunity. 1: 4. PMID   12747765.
• Poulin F, Brueschke A, Sonenberg N (December 2003). "Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK". The Journal of Biological Chemistry. 278 (52): 52290–52297. doi: 10.1074/jbc.M310761200 . PMID   14557257.
• Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, et al. (February 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology. 6 (2): 97–105. doi:10.1038/ncb1086. PMID   14743216. S2CID   11683986.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–12135. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.