FAM136A

FAM136A
Identifiers
Aliases	FAM136A , family with sequence similarity 136 member A
External IDs	OMIM: 616275; MGI: 1913738; HomoloGene: 135942; GeneCards: FAM136A; OMA:FAM136A - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p13.3 Start 70,295,975 bp [1] End 70,302,090 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6|6 D1 Start 86,342,628 bp [2] End 86,347,040 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland body of pancreas gingival epithelium rectum mucosa of transverse colon epithelium of nasopharynx hair follicle duodenum right lobe of liver pancreatic epithelial cell Top expressed in primitive streak embryo abdominal wall epiblast embryo endocardial cushion yolk sac somite migratory enteric neural crest cell cumulus cell More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 84908 66488 Ensembl ENSG00000035141 ENSMUSG00000057497 UniProt Q96C01 Q9CR98 RefSeq (mRNA) NM_001329752 NM_001329753 NM_001329755 NM_001329757 NM_001329758 NM_032822 NM_025591 NM_001368363 RefSeq (protein) NP_001316681 NP_001316682 NP_001316684 NP_001316686 NP_001316687 NP_116211 NP_079867 NP_001355292 Location (UCSC) Chr 2: 70.3 – 70.3 Mb Chr 6: 86.34 – 86.35 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protein FAM136A is a protein that in humans is encoded by the FAM136A gene. ^{[5] [6]}

Clinical significance

Mutations in FAM136A are associated to Ménière's disease. ^{[7] [8]}

References

1. GRCh38: Ensembl release 89: ENSG00000035141 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000057497 – 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. Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (Dec 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc Natl Acad Sci U S A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
6. "Entrez Gene: FLJ14668 hypothetical protein FLJ14668".
7. Lopez-Escamez JA, Carey J, Chung WH, Goebel JA, Magnusson M, Mandalà M, Newman-Toker DE, Strupp M, Suzuki M, Trabalzini F, Bisdorff A (2015). "Diagnostic criteria for Menière's disease". J Vestib Res. 25 (1): 1–7. doi: 10.3233/VES-150549 . PMID   25882471.
8. Requena, T; Cabrera, S; Martín-Sierra, C; Price, S. D.; Lysakowski, A; Lopez-Escamez, J. A. (2014). "Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease". Human Molecular Genetics. 24 (4): 1119–26. doi:10.1093/hmg/ddu524. PMC   4834881 . PMID   25305078.

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC   1083732 . PMID   11256614.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Lehner B, Sanderson CM (2004). "A protein interaction framework for human mRNA degradation". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC   442147 . PMID   15231747.
• Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.