TMEM138 (transmembrane protein 138)

2014-11-01  

Identity

HGNC
LOCATION
11q12.2
LOCUSID
ALIAS
HSPC196
FUSION GENES

Other Information

Locus ID:

NCBI: 51524
MIM: 614459
HGNC: 26944
Ensembl: ENSG00000149483

Variants:

dbSNP: 51524
ClinVar: 51524
TCGA: ENSG00000149483
COSMIC: TMEM138

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149483ENST00000278826Q9NPI0
ENSG00000149483ENST00000381787J3QSZ6
ENSG00000149483ENST00000542946Q9NPI0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
353948802022Tmem138 is localized to the connecting cilium essential for rhodopsin localization and outer segment biogenesis.8
353948802022Tmem138 is localized to the connecting cilium essential for rhodopsin localization and outer segment biogenesis.8
281026352017Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.0
281026352017Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.0
222824722012Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.44
222824722012Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.44

Citation

Dessen P

TMEM138 (transmembrane protein 138)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74801/gene-explorer/