FAM136A

Protein-coding gene in the species Homo sapiens
FAM136A
Identifiers
AliasesFAM136A, family with sequence similarity 136 member A
External IDsOMIM: 616275; MGI: 1913738; HomoloGene: 135942; GeneCards: FAM136A; OMA:FAM136A - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for FAM136A
Genomic location for FAM136A
Band2p13.3Start70,295,975 bp[1]
End70,302,090 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for FAM136A
Genomic location for FAM136A
Band6|6 D1Start86,342,628 bp[2]
End86,347,040 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 6: 86.34 – 86.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000035141 – Ensembl, May 2017
  2. ^ a b c 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.
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