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)
End	61,377,890 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	10,554,726 bp
RNA expression pattern
	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; ; lens; ; yolk sac; ; morula; ; proximal tubule; ; spermatid; ; superior frontal gyrus; ; ganglionic eminence; ; thymus;
	More reference expression data
	n/a
Orthologs
	51524
	72982
	ENSG00000149483
	ENSMUSG00000024666
	Q9NPI0
	Q9D6G5
	NM_016464; NM_001330281
	NM_001302218; NM_028411
	NP_001317210; NP_057548
	NP_001289147; NP_082687
	Wikidata
View/Edit Human	View/Edit Mouse

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]

1 2 3 GRCh38: Ensembl release 89: ENSG00000149483 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024666 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: Transmembrane protein 138". Retrieved 2012-01-30.
↑ 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.