Human Gene TM7SF2 (ENST00000279263.14) from GENCODE V44
  Description: Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), transcript variant 1, mRNA. (from RefSeq NM_003273)
Gencode Transcript: ENST00000279263.14
Gencode Gene: ENSG00000149809.17
Transcript (Including UTRs)
   Position: hg38 chr11:65,111,872-65,116,230 Size: 4,359 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg38 chr11:65,112,016-65,116,053 Size: 4,038 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:65,111,872-65,116,230)mRNA (may differ from genome)Protein (418 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ERG24_HUMAN
DESCRIPTION: RecName: Full=Delta(14)-sterol reductase; Short=Delta-14-SR; EC=1.3.1.70; AltName: Full=Another new gene 1 protein; AltName: Full=C-14 sterol reductase; AltName: Full=Putative sterol reductase SR-1; AltName: Full=Sterol C14-reductase; AltName: Full=Transmembrane 7 superfamily member 2;
FUNCTION: Involved in the conversion of lanosterol to cholesterol.
CATALYTIC ACTIVITY: 4,4-dimethyl-5-alpha-cholesta-8,24-dien-3- beta-ol + NADP(+) = 4,4-dimethyl-5-alpha-cholesta-8,14,24-trien-3- beta-ol + NADPH.
SUBCELLULAR LOCATION: Microsome membrane; Multi-pass membrane protein (By similarity). Endoplasmic reticulum membrane; Multi- pass membrane protein.
TISSUE SPECIFICITY: Expressed in adult heart, brain, pancreas, lung, liver, skeletal muscle, kidney, ovary, prostate, and testis, but not detected in placenta, spleen, thymus, small intestine, colon (mucosal lining), or peripheral blood leukocytes.
SIMILARITY: Belongs to the ERG4/ERG24 family.
SEQUENCE CAUTION: Sequence=AAC21450.1; Type=Miscellaneous discrepancy; Note=Sequencing errors; Sequence=AAC21457.1; Type=Miscellaneous discrepancy; Note=Sequencing errors;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 203.26 RPKM in Adrenal Gland
Total median expression: 928.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -65.10144-0.452 Picture PostScript Text
3' UTR -56.30177-0.318 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001171 - Ergosterol_biosynth_ERG4_ERG24
IPR018083 - Sterol_reductase_CS

Pfam Domains:
PF01222 - Ergosterol biosynthesis ERG4/ERG24 family

ModBase Predicted Comparative 3D Structure on O76062
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016491 oxidoreductase activity
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
GO:0050613 delta14-sterol reductase activity
GO:0050661 NADP binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006694 steroid biosynthetic process
GO:0006695 cholesterol biosynthetic process
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0016126 sterol biosynthetic process
GO:0045540 regulation of cholesterol biosynthetic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0031090 organelle membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0043235 receptor complex
GO:0005637 nuclear inner membrane


-  Descriptions from all associated GenBank mRNAs
  LF211187 - JP 2014500723-A/18690: Polycomb-Associated Non-Coding RNAs.
MA446764 - JP 2018138019-A/18690: Polycomb-Associated Non-Coding RNAs.
AK290935 - Homo sapiens cDNA FLJ77103 complete cds, highly similar to Homo sapiens transmembrane 7 superfamily member 2, mRNA.
AK296441 - Homo sapiens cDNA FLJ60622 complete cds, highly similar to Delta(14)-sterol reductase (EC 1.3.1.70).
BC038353 - Homo sapiens transmembrane 7 superfamily member 2, mRNA (cDNA clone MGC:9089 IMAGE:3861907), complete cds.
BC009052 - Homo sapiens transmembrane 7 superfamily member 2, mRNA (cDNA clone MGC:9286 IMAGE:3874367), complete cds.
AF096304 - Homo sapiens putative sterol reductase SR-1 (TM7SF2) mRNA, complete cds.
AF023676 - Homo sapiens lamin B receptor homolog TM7SF2 (TM7SF2) mRNA, complete cds.
JD520423 - Sequence 501447 from Patent EP1572962.
BC012857 - Homo sapiens transmembrane 7 superfamily member 2, mRNA (cDNA clone MGC:17157 IMAGE:4214662), complete cds.
LF344482 - JP 2014500723-A/151985: Polycomb-Associated Non-Coding RNAs.
MA580059 - JP 2018138019-A/151985: Polycomb-Associated Non-Coding RNAs.
JD495951 - Sequence 476975 from Patent EP1572962.
JD443957 - Sequence 424981 from Patent EP1572962.
CU680420 - Synthetic construct Homo sapiens gateway clone IMAGE:100019307 5' read TM7SF2 mRNA.
CU679239 - Synthetic construct Homo sapiens gateway clone IMAGE:100019309 5' read TM7SF2 mRNA.
KJ905942 - Synthetic construct Homo sapiens clone ccsbBroadEn_15612 TM7SF2 gene, encodes complete protein.
KJ897686 - Synthetic construct Homo sapiens clone ccsbBroadEn_07080 TM7SF2 gene, encodes complete protein.
JD190926 - Sequence 171950 from Patent EP1572962.
JD472885 - Sequence 453909 from Patent EP1572962.
LF344479 - JP 2014500723-A/151982: Polycomb-Associated Non-Coding RNAs.
MA580056 - JP 2018138019-A/151982: Polycomb-Associated Non-Coding RNAs.
JD131639 - Sequence 112663 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6074 - zymosterol biosynthesis
PWY66-3 - cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
PWY66-341 - cholesterol biosynthesis I
PWY66-4 - cholesterol biosynthesis III (via desmosterol)
PWY66-5 - superpathway of cholesterol biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein O76062 (Reactome details) participates in the following event(s):

R-HSA-194698 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [TM7SF2]
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-191273 Cholesterol biosynthesis
R-HSA-8957322 Metabolism of steroids
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4H0, ANG1, ENST00000279263.1, ENST00000279263.10, ENST00000279263.11, ENST00000279263.12, ENST00000279263.13, ENST00000279263.2, ENST00000279263.3, ENST00000279263.4, ENST00000279263.5, ENST00000279263.6, ENST00000279263.7, ENST00000279263.8, ENST00000279263.9, ERG24_HUMAN, NM_003273, O76062, O95982, Q8IY06, Q96E64, Q96GZ1, uc001oct.1, uc001oct.2, uc001oct.3, uc001oct.4, uc001oct.5, uc001oct.6, uc001oct.7, uc001oct.8
UCSC ID: ENST00000279263.14
RefSeq Accession: NM_003273
Protein: O76062 (aka ERG24_HUMAN or ER24_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.