TMEM138 Clinical relevance References Further reading Navigation...


Genes on human chromosome 11Human chromosome 11 gene stubs


5152472982ENSG00000149483ENSMUSG00000024666Q9NPI0Q9D6G5proteingeneciliopathyJoubert syndrome






























































TMEM138
Identifiers
Aliases
TMEM138, HSPC196, transmembrane protein 138
External IDs MGI: 1920232 HomoloGene: 9518 GeneCards: TMEM138


















Gene location (Human)
Chromosome 11 (human)
Chr. Chromosome 11 (human)[1]

Chromosome 11 (human)
Genomic location for TMEM138

Genomic location for TMEM138

Band 11q12.2 Start 61,362,001 bp[1]
End 61,369,509 bp[1]


















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
NP_082687

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





  1. ^ abc GRCh38: Ensembl release 89: ENSG00000149483 - Ensembl, May 2017


  2. ^ abc GRCm38: Ensembl release 89: ENSMUSG00000024666 - Ensembl, May 2017


  3. ^ "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}


  4. ^ "Mouse PubMed Reference:".


  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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