Aliases for TM7SF2 Gene

Aliases for TM7SF2 Gene

  • Transmembrane 7 Superfamily Member 2 2 3 4 5
  • 3-Beta-Hydroxysterol Delta (14)-Reductase 3 4
  • Delta(14)-Sterol Reductase TM7SF2 3 4
  • Putative Sterol Reductase SR-1 3 4
  • Another New Gene 1 Protein 3 4
  • Delta(14)-Sterol Reductase 2 3
  • C-14 Sterol Reductase 3 4
  • Sterol C14-Reductase 3 4
  • Delta-14-SR 3 4
  • EC 1.3.1.70 4 52
  • C14SR 3 4
  • ANG1 3 4
  • EC 1.3.1 52
  • 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. Diseases associated with TM7SF2 include Pelger-Huet Anomaly. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Metabolism. 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 Summary for TM7SF2 Gene

  • Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis.

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 , Rfam classification and piRNA Summary for TM7SF2 Gene

Genomics for TM7SF2 Gene

GeneHancer (GH) Regulatory Elements for TM7SF2 Gene

Promoters and enhancers for TM7SF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TM7SF2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TM7SF2

Top Transcription factor binding sites by QIAGEN in the TM7SF2 gene promoter:
  • ATF
  • Bach2
  • c-Ets-1
  • c-Myc
  • C/EBPalpha
  • HSF2
  • Max
  • NF-1
  • NF-1/L
  • PPAR-gamma2

Genomic Locations for TM7SF2 Gene

Genomic Locations for TM7SF2 Gene
chr11:65,111,845-65,116,396
(GRCh38/hg38)
Size:
4,552 bases
Orientation:
Plus strand
chr11:64,879,317-64,883,856
(GRCh37/hg19)
Size:
4,540 bases
Orientation:
Plus strand

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 TM7SF2
    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 Lys397
  • 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

Protein Domains for TM7SF2 Gene

Blocks:
  • ERG4/ERG24 ergosterol biosynthesis protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TM7SF2 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane 7 superfamily member 2 (ERG24_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP(+) = 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + H(+) + NADPH; Xref=Rhea:RHEA:18561, ChEBI:CHEBI:15378, ChEBI:CHEBI:17813, ChEBI:CHEBI:18364, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.3.1.70; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-cholest-8,14-dien-3beta-ol + H(+) + NADPH = 5alpha-cholest-8-en-3beta-ol + NADP(+); Xref=Rhea:RHEA:46456, ChEBI:CHEBI:15378, ChEBI:CHEBI:16608, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:86131; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4,4-dimethyl-8,14-cholestadien-3beta-ol + H(+) + NADPH = 4,4-dimethyl-5alpha-cholest-8-en-3beta-ol + NADP(+); Xref=Rhea:RHEA:46812, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:78904, ChEBI:CHEBI:87044; Evidence=. ;.
UniProtKB/Swiss-Prot Induction:
By sterol starvation.
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

Enzyme Numbers (IUBMB) for TM7SF2 Gene

Phenotypes From GWAS Catalog 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: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:

Animal Model Products

CRISPR Products

miRNA for TM7SF2 Gene

miRTarBase miRNAs that target TM7SF2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TM7SF2

Clone Products

No data available for 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
nucleus 4
endoplasmic reticulum 4
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 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 nuclear inner membrane IBA 21873635
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

UniProtKB/Swiss-Prot O76062-ERG24_HUMAN

  • Pathway: Steroid biosynthesis; cholesterol biosynthesis.

Interacting Proteins for TM7SF2 Gene

;

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

(1) Drugs for TM7SF2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADP Experimental Pharma 0

(8) 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
  • 4,4-Dimechol-8,14,24-trienol
  • 4,4-Dimethylcholesta-8(9),14,24-trien-3beta-ol
  • 4,4-Dimethylcholesta-8(9),14,24-trien-3b-ol
  • 4,4-Dimethylcholesta-8(9),14,24-trien-3β-ol
  • (3beta,5alpha)-4,4-Dimethyl-cholesta-8,14,24-trien-3-ol
64284-64-6
Delta 8,14 -Sterol
  • delta8,14 -Sterol
  • delta8,14-Sterol
  • δ8,14 -sterol
  • δ 8,14 -sterol
  • δ8,14-sterol
74635-33-9
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with TM7SF2: view

Transcripts for TM7SF2 Gene

mRNA/cDNA for TM7SF2 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TM7SF2

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

Expression for TM7SF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TM7SF2 Gene



Protein tissue co-expression partners for TM7SF2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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, testis and adrenal gland, 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 31 30
  • 98.63 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TM7SF2 31 30
  • 89.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TM7SF2 31 30
  • 88.52 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tm7sf2 30
  • 85.25 (n)
mouse
(Mus musculus)
Mammalia Tm7sf2 17 31 30
  • 84.61 (n)
oppossum
(Monodelphis domestica)
Mammalia TM7SF2 31
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TM7SF2 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tm7sf2 30
  • 62.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68849 30
zebrafish
(Danio rerio)
Actinopterygii tm7sf2 31 30
  • 61.71 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003745 30
  • 48.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG24 31
  • 36 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons FK 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TM7SF2: view image

Paralogs for TM7SF2 Gene

Paralogs for TM7SF2 Gene

(2) SIMAP similar genes for TM7SF2 Gene using alignment to 15 proteins:

  • ERG24_HUMAN
  • E9PK81_HUMAN
  • E9PLI3_HUMAN
  • E9PLL1_HUMAN
  • E9PLS9_HUMAN
  • E9PP79_HUMAN
  • E9PQ50_HUMAN
  • E9PQZ7_HUMAN
  • E9PRQ1_HUMAN
  • E9PS09_HUMAN
  • E9PS18_HUMAN
  • F5GYV3_HUMAN
  • H0YCI8_HUMAN
  • H0YDY5_HUMAN
  • H0YEN6_HUMAN
genes like me logo Genes that share paralogs with TM7SF2: view

Variants for TM7SF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TM7SF2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs1129195 - p.Thr299Ile
rs11539360 - p.Ala119Val

Additional dbSNP identifiers (rs#s) for TM7SF2 Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for TM7SF2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pelger-huet anomaly
  • pha
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TM7SF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TM7SF2: view

No data available for 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 23 54
  2. 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 4 23 54
  3. The human lamin B receptor/sterol reductase multigene family. (PMID: 9878250) Holmer L … Worman HJ (Genomics 1998) 3 4 23 54
  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 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for TM7SF2 Gene

Sources for TM7SF2 Gene