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Aliases for TM7SF2 Gene

Aliases for TM7SF2 Gene

  • Transmembrane 7 Superfamily Member 2 2 3 4
  • ANG1 3 4 6
  • 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 63
  • EC 1.3.1 63
  • 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 Metabolism and Metabolism. GO annotations related to this gene include delta14-sterol reductase activity. An important paralog of this gene is DHCR7.

UniProtKB/Swiss-Prot for TM7SF2 Gene

  • Involved in the conversion of lanosterol to cholesterol.

Gene Wiki entry for TM7SF2 Gene

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

Genomics for TM7SF2 Gene

Regulatory Elements for TM7SF2 Gene

Genomic Location for TM7SF2 Gene

Start:
65,111,845 bp from pter
End:
65,116,384 bp from pter
Size:
4,540 bases
Orientation:
Plus strand

Genomic View for TM7SF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for TM7SF2 Gene at MOPED

Selected DME Specific Peptides for TM7SF2 Gene

Post-translational modifications for TM7SF2 Gene

  • Ubiquitination at Lys397
  • Modification sites at PhosphoSitePlus

Domains for TM7SF2 Gene

Protein Domains for TM7SF2 Gene

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 :
  • O76062
Family:
  • Belongs to the ERG4/ERG24 family.
genes like me logo Genes that share domains with TM7SF2: view

No data available for Gene Families for TM7SF2 Gene

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:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor --
GO:0050613 delta14-sterol reductase activity IEA --
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

No data available for Transcription Factor Targeting 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
Jensen Localization Image for TM7SF2 Gene COMPARTMENTS Subcellular localization image for TM7SF2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TM7SF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum TAS 9878250
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9878250
GO:0016020 membrane --
GO:0043235 receptor complex IDA 23382219
genes like me logo Genes that share ontologies with TM7SF2: view

Pathways 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:0006695 cholesterol biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with TM7SF2: view

Compounds for TM7SF2 Gene

(6) HMDB Compounds for TM7SF2 Gene

Compound Synonyms Cas Number PubMed IDs
4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol
  • 14-demethyllanosterol
7448-02-4
4,4-Dimethylcholesta-8,14,24-trienol
  • (3beta,5alpha)-4,4-Dimethylcholesta-8,14,24-trien-3-ol
64284-64-6
4a-Methylfecosterol
  • 4alpha-Methylfecosterol
Not Available
Delta 8,14 -Sterol
  • 4alpha-Methyl-5alpha-ergosta-8,14,24(28)-trien-3beta-ol
74635-33-9
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8

(2) Novoseek inferred chemical compound relationships for TM7SF2 Gene

Compound -log(P) Hits PubMed IDs
fenpropimorph 88 1
sterol 74.8 6
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:

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 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 (9.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TM7SF2 Gene

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.
genes like me logo Genes that share expressions with TM7SF2: view

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 35
  • 98.63 (n)
  • 97.42 (a)
TM7SF2 36
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TM7SF2 35
  • 89.39 (n)
  • 90.67 (a)
TM7SF2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TM7SF2 35
  • 88.52 (n)
  • 91.39 (a)
TM7SF2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tm7sf2 35
  • 84.61 (n)
  • 85.89 (a)
Tm7sf2 16
Tm7sf2 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TM7SF2 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tm7sf2 35
  • 85.25 (n)
  • 86.6 (a)
lizard
(Anolis carolinensis)
Reptilia TM7SF2 36
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68849 35
tropical clawed frog
(Silurana tropicalis)
Amphibia tm7sf2 35
  • 62.99 (n)
  • 65.64 (a)
zebrafish
(Danio rerio)
Actinopterygii tm7sf2 35
  • 61.71 (n)
  • 65.64 (a)
tm7sf2 36
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003745 35
  • 48.36 (n)
  • 34.91 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG24 36
  • 36 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons FK 35
  • 46.73 (n)
  • 45.71 (a)
Species with no ortholog for TM7SF2:
  • 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 Sequence Context AA Info Type MAF
rs1129195 - 65,115,317(+) AGCTA(C/T)TGGTT intron-variant, reference, missense, nc-transcript-variant
rs1546532 -- 65,116,580(-) CTGGC(C/T)CTAGA downstream-variant-500B
rs3186794 -- 65,112,819(+) GCCGA(A/G)GGGCA synonymous-codon, reference, intron-variant
rs4930284 -- 65,112,618(+) CTGCC(C/G/T)GGGCT reference, synonymous-codon, nc-transcript-variant
rs7939766 -- 65,114,085(+) CCTGT(C/T)GCCCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv526181 CNV Gain 19592680
dgv1174n71 CNV Loss 21882294
nsv897712 CNV Loss 21882294

Relevant External Links for TM7SF2 Gene

HapMap Linkage Disequilibrium report
TM7SF2

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

Disorders for TM7SF2 Gene

(1) University of Copenhagen DISEASES for TM7SF2 Gene

Relevant External Links for TM7SF2

Genetic Association Database (GAD)
TM7SF2
Human Genome Epidemiology (HuGE) Navigator
TM7SF2
genes like me logo Genes that share disorders with TM7SF2: view

No data available for UniProtKB/Swiss-Prot 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 I.H. … Van de Ven W.J.M. (Genomics 1998) 2 3 4 23
  2. The human lamin B receptor/sterol reductase multigene family. (PMID: 9878250) Holmer L. … Worman H.J. (Genomics 1998) 3 4 23
  3. Cloning and expression of sterol Delta14-reductase from bovine liver. (PMID: 11784322) Roberti R. … Servillo G. (Eur. J. Biochem. 2002) 3 4 23
  4. Genes encoding chimeras of Neurospora crassa erg-3 and human TM7SF2 proteins fail to complement Neurospora and yeast sterol C-14 reductase mutants. (PMID: 11937680) Prakash A. … Kasbekar D.P. (J. Biosci. 2002) 3 23
  5. Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis. (PMID: 16784888) Bennati A.M. … Roberti R. (Biochim. Biophys. Acta 2006) 3 23

Products for TM7SF2 Gene

Sources for TM7SF2 Gene

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