TMEM138

Transmembrane protein 138 is a protein that in humans is encoded by the TMEM138 gene.[5]

TMEM138
Identifiers
AliasesTMEM138, HSPC196, transmembrane protein 138
External IDsOMIM: 614459 MGI: 1920232 HomoloGene: 9518 GeneCards: TMEM138
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11q12.2Start61,362,344 bp[1]
End61,369,509 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

51524

72982

Ensembl

ENSG00000149483

ENSMUSG00000024666

UniProt

Q9NPI0

Q9D6G5

RefSeq (mRNA)

NM_016464
NM_001330281

NM_001302218
NM_028411

RefSeq (protein)

NP_001317210
NP_057548

NP_001289147
NP_082687

Location (UCSC)Chr 11: 61.36 – 61.37 MbChr 19: 10.57 – 10.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical relevance

Mutations in this gene have been shown to cause a ciliopathy indistinguishable to Joubert syndrome.[6]

References
  1. GRCh38: Ensembl release 89: ENSG00000149483 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000024666 - 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. "Entrez Gene: Transmembrane protein 138". Retrieved 2012-01-30.
  6. Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attié-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS, Gleeson JG (Feb 2012). "Evolutionarily assembled cis-regulatory module at a human ciliopathy locus". Science. 335 (6071): 966–9. doi:10.1126/science.1213506. PMC 3671610. PMID 22282472.

Further reading


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