TECR (trans-2,3-enoyl-CoA reductase)

2014-07-01  

Identity

HGNC
LOCATION
19p13.12
LOCUSID
ALIAS
GPSN2,MRT14,SC2,TER
FUSION GENES

Other Information

Locus ID:

NCBI: 9524
MIM: 610057
HGNC: 4551
Ensembl: ENSG00000099797

Variants:

dbSNP: 9524
ClinVar: 9524
TCGA: ENSG00000099797
COSMIC: TECR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099797ENST00000215567Q9NZ01
ENSG00000099797ENST00000596073M0R2N5
ENSG00000099797ENST00000598333M0R3C3
ENSG00000099797ENST00000598987M0R2E5
ENSG00000099797ENST00000601187M0R329

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
Fatty acid elongationKEGGko00062
Biosynthesis of unsaturated fatty acidsKEGGko01040
Fatty acid elongationKEGGhsa00062
Biosynthesis of unsaturated fatty acidsKEGGhsa01040
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGhsa_M00415
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGM00415
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Fatty Acyl-CoA BiosynthesisREACTOMER-HSA-75105
Synthesis of very long-chain fatty acyl-CoAsREACTOMER-HSA-75876

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
212120972011Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.36
158476542005A flexible array format for large-scale, rapid blood group DNA typing.30
250492342014Dual functions of the trans-2-enoyl-CoA reductase TER in the sphingosine 1-phosphate metabolic pathway and in fatty acid elongation.15
242200302013Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile.8

Citation

Dessen P

TECR (trans-2,3-enoyl-CoA reductase)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54061/tecr