TMEM138
Clinical relevance
References
Further reading
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Multi tool use
Genes on human chromosome 11Human chromosome 11 gene stubs
5152472982ENSG00000149483ENSMUSG00000024666Q9NPI0Q9D6G5proteingeneciliopathyJoubert syndrome
‹ The template Infobox gene is being considered for merging. ›
| TMEM138 |
|---|
|
| Identifiers |
|---|
| Aliases |
TMEM138, HSPC196, transmembrane protein 138 |
| External IDs |
MGI: 1920232 HomoloGene: 9518 GeneCards: TMEM138 |
| Gene location (Human) |
|---|
 |
| Chr. |
Chromosome 11 (human)[1] |
|
| Band |
11q12.2 |
Start |
61,362,001 bp[1] |
| End |
61,369,509 bp[1] |
|
| Gene location (Mouse) |
|---|
 |
| Chr. |
Chromosome 19 (mouse)[2] |
|
| Band |
19|19 A |
Start |
10,570,478 bp[2] |
| End |
10,577,362 bp[2] |
|
| Orthologs |
|---|
| Species |
Human |
Mouse |
| Entrez |
|
|
| Ensembl |
|
|
| UniProt |
|
|
| RefSeq (mRNA) |
|
|
| RefSeq (protein) |
|
|
| Location (UCSC) |
Chr 11: 61.36 – 61.37 Mb |
Chr 19: 10.57 – 10.58 Mb |
PubMed search |
[3] |
[4] |
| 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]
References
^ abc GRCh38: Ensembl release 89: ENSG00000149483 - Ensembl, May 2017
^ abc GRCm38: Ensembl release 89: ENSMUSG00000024666 - Ensembl, May 2017
^ "Human PubMed Reference:"..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output .citation q{quotes:"""""""'""'"}.mw-parser-output .citation .cs1-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/6/65/Lock-green.svg/9px-Lock-green.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .citation .cs1-lock-limited a,.mw-parser-output .citation .cs1-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Lock-gray-alt-2.svg/9px-Lock-gray-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .citation .cs1-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/a/aa/Lock-red-alt-2.svg/9px-Lock-red-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/4/4c/Wikisource-logo.svg/12px-Wikisource-logo.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{font-size:100%}.mw-parser-output .cs1-maint{display:none;color:#33aa33;margin-left:0.3em}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}
^ "Mouse PubMed Reference:".
^ "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. doi:10.1126/science.1213506. PMC 3671610. PMID 22282472.
Further reading
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