FAM136A

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

FAM136A
Identifiers
AliasesFAM136A, family with sequence similarity 136 member A
External IDsOMIM: 616275 MGI: 1913738 HomoloGene: 135942 GeneCards: FAM136A
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2p13.3Start70,295,975 bp[1]
End70,302,090 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

84908

66488

Ensembl

ENSG00000035141

ENSMUSG00000057497

UniProt

Q96C01

Q9CR98

RefSeq (mRNA)

NM_025591
NM_001368363

RefSeq (protein)

NP_079867
NP_001355292

Location (UCSC)Chr 2: 70.3 – 70.3 MbChr 6: 86.37 – 86.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance

Mutations in FAM136A are associated to Meniere'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. 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: 1–7. 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: 1119–26. doi:10.1093/hmg/ddu524. PMC 4834881. PMID 25305078.

Further reading

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