TMEM138

TMEM138
Identifiers
Aliases	TMEM138 , HSPC196, transmembrane protein 138
External IDs	OMIM: 614459 MGI: 1920232 HomoloGene: 9518 GeneCards: TMEM138
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q12.2 Start 61,361,964 bp [1] End 61,377,890 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19|19 A Start 10,547,842 bp [2] End 10,554,726 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Right adrenal gland Left adrenal gland right uterine tube left uterine tube stromal cell of endometrium right coronary artery canal of the cervix left coronary artery smooth muscle tissue thoracic aorta Top expressed in spermatocyte neural tube mirror yolk sac morula proximal tubule spermatid superior frontal gyrus ganglionic eminence thymus More reference expression data BioGPS n/a
Orthologs Species Human Mouse 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 – 61.38 Mb Chr 19: 10.55 – 10.55 Mb PubMed search [3] [4]
Wikidata
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Transmembrane protein 138 is a protein that in humans is encoded by the TMEM138 gene. ^[5]

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. Bibcode:2012Sci...335..966L. doi:10.1126/science.1213506. PMC   3671610 . PMID   22282472.