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Aliases for TM7SF2 Gene

Aliases for TM7SF2 Gene

  • Transmembrane 7 Superfamily Member 2 2 3 4 5
  • Putative Sterol Reductase SR-1 3 4
  • Delta(14)-Sterol Reductase 2 3
  • Another New Gene 1 Protein 3 4
  • C-14 Sterol Reductase 3 4
  • Sterol C14-Reductase 3 4
  • Delta-14-SR 3 4
  • EC 1.3.1.70 4 56
  • ANG1 3 4
  • EC 1.3.1 56
  • DHCR14A 3
  • NET47 3

External Ids for TM7SF2 Gene

Previous GeneCards Identifiers for TM7SF2 Gene

  • GC11P067395
  • GC11P066560
  • GC11P065129
  • GC11P064654
  • GC11P064635
  • GC11P064881
  • GC11P061206

Summaries for TM7SF2 Gene

GeneCards Summary for TM7SF2 Gene

TM7SF2 (Transmembrane 7 Superfamily Member 2) is a Protein Coding gene. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and cholesterol biosynthesis I. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor and delta14-sterol reductase activity. An important paralog of this gene is LBR.

UniProtKB/Swiss-Prot for TM7SF2 Gene

  • Involved in the conversion of lanosterol to cholesterol.

Gene Wiki entry for TM7SF2 Gene

Additional gene information for TM7SF2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TM7SF2 Gene

Genomics for TM7SF2 Gene

GeneHancer (GH) Regulatory Elements for TM7SF2 Gene

Promoters and enhancers for TM7SF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I065109 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.4 374 4.8 HDGF FOXA2 PKNOX1 CLOCK ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ENSG00000254501 TM7SF2 SAC3D1 LOC728975 PIR37522 VPS51
GH11I065129 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.9 +21.4 21428 7.2 CLOCK ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SYVN1 SPDYC LOC728975 SSSCA1 PGAM1P8 CAPN1 ZNHIT2 SF1 POLA2 SCYL1
GH11I065288 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +184.0 183952 14.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 BRCA1 ZNF48 ETS1 ZNF766 FOS POLA2 EHD1 LOC728975 SLC25A45 DPF2 FRMD8 ENSG00000255478 SPDYC CAPN1 PGAM1P8
GH11I065215 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.6 +103.7 103695 0.3 SMARCA5 HDAC1 SMARCE1 MEIS2 LEF1 PKNOX1 CEBPB DPF2 ZFHX2 ZNF366 SLC22A20P POLA2 LOC728975 CAPN1 PGAM1P8 CDC42EP2 SPDYC ENSG00000255173 ZNHIT2 HIGD1AP10
GH11I065277 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.5 +167.8 167801 4.5 JUN EBF1 BATF ZBTB40 RELA ZNF664 FOSL1 ATF7 FOSL2 FOS LOC728975 CDC42EP2 DPF2 SLC25A45 FRMD8 TIGD3 CAPN1 PGAM1P8 ENSG00000254501 TM7SF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TM7SF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TM7SF2 gene promoter:

Genomic Locations for TM7SF2 Gene

Genomic Locations for TM7SF2 Gene
chr11:65,111,845-65,116,384
(GRCh38/hg38)
Size:
4,540 bases
Orientation:
Plus strand
chr11:64,879,317-64,883,856
(GRCh37/hg19)

Genomic View for TM7SF2 Gene

Genes around TM7SF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TM7SF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TM7SF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM7SF2 Gene

Proteins for TM7SF2 Gene

  • Protein details for TM7SF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76062-ERG24_HUMAN
    Recommended name:
    Delta(14)-sterol reductase
    Protein Accession:
    O76062
    Secondary Accessions:
    • A8K4H0
    • O95982
    • Q8IY06
    • Q96E64
    • Q96GZ1

    Protein attributes for TM7SF2 Gene

    Size:
    418 amino acids
    Molecular mass:
    46406 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC21450.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305}; Sequence=AAC21457.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305};

    Alternative splice isoforms for TM7SF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TM7SF2 Gene

Selected DME Specific Peptides for TM7SF2 Gene

O76062:
  • HLLPYFY
  • VPFTYSLQA

Post-translational modifications for TM7SF2 Gene

  • Ubiquitination at isoforms=2397
  • Modification sites at PhosphoSitePlus

Domains & Families for TM7SF2 Gene

Gene Families for TM7SF2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for TM7SF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O76062

UniProtKB/Swiss-Prot:

ERG24_HUMAN :
  • Belongs to the ERG4/ERG24 family.
Family:
  • Belongs to the ERG4/ERG24 family.
genes like me logo Genes that share domains with TM7SF2: view

Function for TM7SF2 Gene

Molecular function for TM7SF2 Gene

GENATLAS Biochemistry:
seven pass transmembrane superfamily,member 2,located in the endoplasmic reticulum and continuous outer nuclear membrane,widely expressed,G protein coupled receptor superfamily in the MEN1 region,LBR superfamily
UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot Function:
Involved in the conversion of lanosterol to cholesterol.

Enzyme Numbers (IUBMB) for TM7SF2 Gene

Gene Ontology (GO) - Molecular Function for TM7SF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IBA --
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IEA --
GO:0050613 delta14-sterol reductase activity TAS --
GO:0050661 NADP binding ISS --
genes like me logo Genes that share ontologies with TM7SF2: view
genes like me logo Genes that share phenotypes with TM7SF2: view

Animal Models for TM7SF2 Gene

MGI Knock Outs for TM7SF2:

miRNA for TM7SF2 Gene

miRTarBase miRNAs that target TM7SF2

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TM7SF2 Gene

Localization for TM7SF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM7SF2 Gene

Microsome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TM7SF2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
nucleus 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TM7SF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005637 NOT nuclear inner membrane IBA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9878250
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TM7SF2: view

Pathways & Interactions for TM7SF2 Gene

genes like me logo Genes that share pathways with TM7SF2: view

Gene Ontology (GO) - Biological Process for TM7SF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
genes like me logo Genes that share ontologies with TM7SF2: view

No data available for SIGNOR curated interactions for TM7SF2 Gene

Drugs & Compounds for TM7SF2 Gene

(9) Additional Compounds for TM7SF2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol
  • (3beta,5alpha)-4,4-dimethylcholesta-8,24-dien-3-ol
  • 14-Demethyllanosterol
  • 4,4-Dimethyl-5 alpha -cholesta-8,24-dien-3 beta -ol
  • 4,4-Dimethyl-5-alpha-cholesta-(8,24)-dien-3-beta-ol
  • 4,4-Dimethyl-5-alpha-cholesta-8,24-dien-3-beta-ol
7448-02-4
4,4-Dimethylcholesta-8,14,24-trienol
  • (3beta,5alpha)-4,4-dimethyl-Cholesta-8,14,24-trien-3-ol
  • (3beta,5alpha)-4,4-Dimethylcholesta-8,14,24-trien-3-ol
  • 4,4'-Dimethyl cholesta-8,14,24-triene-3-beta-ol
  • 4,4-Dimechol-8,14,24-trienol
  • 4,4-Dimethyl-5-alpha-cholesta-8,14,24-trien-3-beta-ol
64284-64-6
4a-Methylfecosterol
  • 4alpha-Methylfecosterol
Delta 8,14 -Sterol
  • 4-alpha-Methyl-5-alpha-ergosta-8,14,24(28)-trien-3-beta-ol
  • 4a-Methyl-5a-ergosta-8,14,24(28)-trien-3b-ol
  • 4a-Methylergosta-8,14,24(241)-trien-3b-ol
  • 4alpha-Methyl-5alpha-ergosta-8,14,24(28)-trien-3beta-ol
  • delta 8,14 -Sterol
74635-33-9
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with TM7SF2: view

Transcripts for TM7SF2 Gene

Unigene Clusters for TM7SF2 Gene

Transmembrane 7 superfamily member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TM7SF2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a ·
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - - -
SP6: - -
SP7: - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - -
SP10: - - - - - - - -
SP11: - - - - - -
SP12: - -
SP13: - -
SP14: - - - - - - - - - - - -
SP15: - - - - - - - - - - -
SP16: - -
SP17: -
SP18:

ExUns: 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
SP1: - -
SP2: - -
SP3: - -
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - - - -
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for TM7SF2 Gene

GeneLoc Exon Structure for
TM7SF2
ECgene alternative splicing isoforms for
TM7SF2

Expression for TM7SF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TM7SF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TM7SF2 Gene

This gene is overexpressed in Adrenal Gland (x9.8).

Protein differential expression in normal tissues from HIPED for TM7SF2 Gene

This gene is overexpressed in Nasal epithelium (20.7), Fetal testis (19.6), and Adrenal (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TM7SF2 Gene



Protein tissue co-expression partners for TM7SF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TM7SF2 Gene:

TM7SF2

SOURCE GeneReport for Unigene cluster for TM7SF2 Gene:

Hs.31130

mRNA Expression by UniProt/SwissProt for TM7SF2 Gene:

O76062-ERG24_HUMAN
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.

Evidence on tissue expression from TISSUES for TM7SF2 Gene

  • Nervous system(4.7)
  • Eye(4.1)
  • Liver(2.5)
  • Adrenal gland(2.1)
  • Skin(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with TM7SF2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TM7SF2 Gene

Orthologs for TM7SF2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TM7SF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TM7SF2 33 34
  • 98.63 (n)
cow
(Bos Taurus)
Mammalia TM7SF2 33 34
  • 89.39 (n)
dog
(Canis familiaris)
Mammalia TM7SF2 33 34
  • 88.52 (n)
rat
(Rattus norvegicus)
Mammalia Tm7sf2 33
  • 85.25 (n)
mouse
(Mus musculus)
Mammalia Tm7sf2 33 16 34
  • 84.61 (n)
oppossum
(Monodelphis domestica)
Mammalia TM7SF2 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TM7SF2 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tm7sf2 33
  • 62.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68849 33
zebrafish
(Danio rerio)
Actinopterygii tm7sf2 33 34
  • 61.71 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003745 33
  • 48.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG24 34
  • 36 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons FK 33
  • 46.73 (n)
Species where no ortholog for TM7SF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TM7SF2 Gene

ENSEMBL:
Gene Tree for TM7SF2 (if available)
TreeFam:
Gene Tree for TM7SF2 (if available)

Paralogs for TM7SF2 Gene

Paralogs for TM7SF2 Gene

genes like me logo Genes that share paralogs with TM7SF2: view

Variants for TM7SF2 Gene

Sequence variations from dbSNP and Humsavar for TM7SF2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000178121 -- 65,110,168(+) C/T upstream_transcript_variant
rs1000855590 -- 65,112,928(+) C/T intron_variant
rs1000879214 -- 65,112,813(+) G/A coding_sequence_variant, intron_variant, synonymous_variant
rs1002288541 -- 65,112,183(+) C/T intron_variant
rs1002337128 -- 65,111,945(+) G/T 5_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TM7SF2 Gene

Variant ID Type Subtype PubMed ID
nsv526181 CNV gain 19592680

Variation tolerance for TM7SF2 Gene

Residual Variation Intolerance Score: 55.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.21; 87.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TM7SF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TM7SF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TM7SF2 Gene

Disorders for TM7SF2 Gene

Additional Disease Information for TM7SF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for TM7SF2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TM7SF2 Gene

Publications for TM7SF2 Gene

  1. Identification and molecular characterization of TM7SF2 in the FAUNA gene cluster on human chromosome 11q13. (PMID: 9615229) Lemmens IH … Van de Ven WJ (Genomics 1998) 2 3 4 22 58
  2. Cloning and expression of sterol Delta 14-reductase from bovine liver. (PMID: 11784322) Roberti R … Servillo G (European journal of biochemistry 2002) 3 4 22 58
  3. The human lamin B receptor/sterol reductase multigene family. (PMID: 9878250) Holmer L … Worman HJ (Genomics 1998) 3 4 22 58
  4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 44 58
  5. Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis. (PMID: 16784888) Bennati AM … Roberti R (Biochimica et biophysica acta 2006) 3 22 58

Products for TM7SF2 Gene

Sources for TM7SF2 Gene

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