Gene: Tm7sf2

Basic information

Tag Content
Uniprot ID Q71KT5; B5LBK0;
Entrez ID 73166
Genbank protein ID ACF94776.1; AAQ05836.1; EDL33202.1; BAE33285.1;
Genbank nucleotide ID NM_028454.2
Ensembl protein ID ENSMUSP00000025713
Ensembl nucleotide ID ENSMUSG00000024799
Gene name Delta(14)-sterol reductase TM7SF2
Gene symbol Tm7sf2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 17403717
Functional description Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis.
Sequence
MTSREASQAP LEFGGPLGVA ALLILLPATM FHLLLAARSG PARLLALPAY LPGLEELWSP 60
WALLLLFIWL GLQVALYLLP ARKVAEGLEL KDKSRLRYPI NGFQALVLTA LLMGLGVSVG 120
LPLGALPGML LPLAFATTLT SFIFSLLLYA KALVAPASAL APGGNSGNSM YDFFLGRELN 180
PRLGSFDFKY FCELRPGLIG WVFINLALLM QEAELRGSPS LAMWLVNGFQ LLYVGDALWY 240
EESVLTTMDI IHDGFGFMLV FGDLAWVPFT YSLQAQFLLY HPQPLGLPMA LLICLLKVIG 300
YYIFRGANSQ KNTFRKNPSD PSVAGLETIP TATGRQLLVS GWWGMVRHPN YLGDLIMALA 360
WSLPCGLSHL LPYFYVLYFT ALLVHREARD EQQCLQKYGR AWQEYCKRVP YRIIPYVY 418

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTM7SF2282384Q17QS8Bos taurusPredictionMore>>
1:1 orthologTM7SF2476027A0A5F4DIJ7Canis lupus familiarisPredictionMore>>
1:1 orthologTM7SF2100861120A0A452DYK9Capra hircusPredictionMore>>
1:1 orthologTM7SF27108O76062Homo sapiensPredictionMore>>
1:1 orthologTm7sf273166Q71KT5CPOMus musculusPublicationMore>>
1:1 orthologTM7SF2451314K6ZIY4Pan troglodytesPredictionMore>>
1:1 ortholog100514510A0A480QTI0Sus scrofaPredictionMore>>
1:1 orthologTm7sf2293688Q5BK21Rattus norvegicusPredictionMore>>
1:1 orthologtm7sf2F1Q8Y4Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donorsIBA
GO:0050613 delta14-sterol reductase activityISO
GO:0050613 delta14-sterol reductase activityIMP
GO:0050661 NADP bindingISS

GO:Biological Process

GO ID GO Term Evidence
GO:0006695 cholesterol biosynthetic processIEA
GO:0006695 cholesterol biosynthetic processISO
GO:0006695 cholesterol biosynthetic processIDA
GO:0016126 sterol biosynthetic processIBA
GO:0055114 oxidation-reduction processIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005637 nuclear inner membraneIBA
GO:0005783 endoplasmic reticulumISO
GO:0005789 endoplasmic reticulum membraneISO
GO:0030176 integral component of endoplasmic reticulum membraneIBA
GO:0031090 organelle membraneISO
GO:0031090 organelle membraneIDA
GO:0043231 intracellular membrane-bounded organelleISO
GO:0043235 receptor complexISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-191273 Cholesterol biosynthesisIEA
R-MMU-556833 Metabolism of lipidsIEA
R-MMU-8957322 Metabolism of steroidsIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0152 Cholesterol biosynthesis
KW-0153 Cholesterol metabolism
KW-0256 Endoplasmic reticulum
KW-0444 Lipid biosynthesis
KW-0443 Lipid metabolism
KW-0472 Membrane
KW-0492 Microsome
KW-0521 NADP
KW-0560 Oxidoreductase
KW-1185 Reference proteome
KW-0752 Steroid biosynthesis
KW-0753 Steroid metabolism
KW-0756 Sterol biosynthesis
KW-1207 Sterol metabolism
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR001171 Ergosterol_biosynth_ERG4_ERG24
IPR018083 Sterol_reductase_CS

PROSITE

PROSITE ID PROSITE Term
PS01017 STEROL_REDUCT_1
PS01018 STEROL_REDUCT_2

Pfam

Pfam ID Pfam Term
PF01222 ERG4_ERG24

Protein-miRNA interaction