CLTRN (collectrin, amino acid transport regulator)

2018-02-01  

Identity

HGNC
CLTRN
LOCATION
Xp22.2
LOCUSID
57393
ALIAS
NX-17,NX17,TMEM27

Other Information

Locus ID:

NCBI: 57393
MIM: 300631
HGNC: 29437
Ensembl: ENSG00000147003

Variants:

dbSNP: 57393
ClinVar: 57393
TCGA: ENSG00000147003
COSMIC: CLTRN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147003ENST00000380342Q9HBJ8
ENSG00000147003ENST00000650271A0A3B3ITM8

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Insulin processingREACTOMER-HSA-264876

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil

References

Pubmed IDYearTitleCitations
219071422011Bace2 is a β cell-enriched protease that regulates pancreatic β cell function and mass.40
203868772010The role of transmembrane protein 27 (TMEM27) in islet physiology and its potential use as a beta cell mass biomarker.10
195824832009Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.9
218140482011Collectrin and ACE2 in renal and intestinal amino acid transport.9
226283102012Tmem27 dimerization, deglycosylation, plasma membrane depletion, and the extracellular Phe-Phe motif are negative regulators of cleavage by Bace2.6
176937572007Collectrin and the kidney.3
274173142016Lack of TMEM27 expression is associated with postoperative progression of clinically localized conventional renal cell carcinoma.2
194175522009Collectrin gene screening in Turner syndrome patients with kidney malformation.1
246939932014Tmem27 is upregulated by vitamin D in INS-1 cells and its serum concentrations are low in patients with autoimmune diabetes.0
287645602018Serum collectrin levels in patients with early- and late-onset preeclampsia.0

Citation

Dessen P

CLTRN (collectrin, amino acid transport regulator)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57309/cltrn