TMEM138

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TMEM138
Identifiers
Aliases TMEM138, HSPC196, transmembrane protein 138
External IDs MGI: 1920232 HomoloGene: 9518 GeneCards: TMEM138
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_016464
NM_001330281

NM_001302218
NM_028411

RefSeq (protein)

NP_001317210
NP_057548

NP_001289147.1
NP_082687.1
NP_001289147
NP_082687

Location (UCSC) Chr 11: 61.36 – 61.37 Mb Chr 19: 10.57 – 10.58 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Transmembrane protein 138 is a protein that in humans is encoded by the TMEM138 gene.[3]

Clinical relevance[edit]

Mutations in this gene have been shown to cause a ciliopathy indistinguishable to Joubert syndrome.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: Transmembrane protein 138". Retrieved 2012-01-30. 
  4. ^ 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. PMID 22282472. 

Further reading[edit]