TM7SF2 transmembrane 7 superfamily member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TM7SF2provided by HGNC
Official Full Name: transmembrane 7 superfamily member 2provided by HGNC
Primary source: HGNC:HGNC:11863
See related: Ensembl:ENSG00000149809 MIM:603414; AllianceGenome:HGNC:11863
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ANG1; C14SR; NET47; DHCR14A
Summary: Enables delta14-sterol reductase activity. Involved in cholesterol biosynthetic process. Located in endoplasmic reticulum. Part of receptor complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in adrenal (RPKM 80.1), fat (RPKM 50.5) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (65111872..65116230)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65105151..65109509)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (64879344..64883702)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Twin enzymes, divergent control: The cholesterogenic enzymes DHCR14 and LBR are differentially regulated transcriptionally and post-translationally.
Title: Twin enzymes, divergent control: The cholesterogenic enzymes DHCR14 and LBR are differentially regulated transcriptionally and post-translationally.
Data suggest that, besides the SRE motif, both the inverted CCAAT-box and GC-box2 are essential for full TM7SF2 promoter activation by SREBP-2.
Title: Activation of TM7SF2 promoter by SREBP-2 depends on a new sterol regulatory element, a GC-box, and an inverted CCAAT-box.
LBR mutant variants and sterol reductases can severely interfere with the regular organization of the nuclear envelope and the endoplasmic reticulum.
Title: Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7.
Observational study of gene-disease association. (HuGE Navigator)
Title: Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
Results show that the TM7SF2 gene product SR-1 and six chimeras containing SR-1 and Neurospora erg-3 sequences fail to complement sterol c-14 reductase mutants in Neurospora and yeast.
Title: Genes encoding chimeras of Neurospora crassa erg-3 and human TM7SF2 proteins fail to complement Neurospora and yeast sterol C-14 reductase mutants.
a primary role in human cholesterol biosynthesis
Title: Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NADP binding	ISS Inferred from Sequence or Structural Similarity more info
enables delta14-sterol reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables delta14-sterol reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables delta14-sterol reductase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol biosynthetic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in nuclear inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: delta(14)-sterol reductase TM7SF2

Names: 3-beta-hydroxysterol Delta (14)-reductase; C-14 sterol reductase; another new gene 1 protein; delta-14-SR; putative sterol reductase SR-1; sterol C14-reductase

NP_001264162.1

EC 1.3.1.70

NP_003264.2

EC 1.3.1.70

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001277233.2 → NP_001264162.1 delta(14)-sterol reductase TM7SF2 isoform 2

See identical proteins and their annotated locations for NP_001264162.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AP003068

Consensus CDS

CCDS60846.1

UniProtKB/Swiss-Prot

O76062

Related

ENSP00000329520.6, ENST00000345348.9

Conserved Domains (1) summary

cl21511
Location:73 → 391

PEMT; Phospholipid methyltransferase
NM_003273.6 → NP_003264.2 delta(14)-sterol reductase TM7SF2 isoform 1

See identical proteins and their annotated locations for NP_003264.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AP003068

Consensus CDS

CCDS41669.1

UniProtKB/Swiss-Prot

A8K4H0, O76062, O95982, Q8IY06, Q96E64, Q96GZ1

Related

ENSP00000279263.7, ENST00000279263.14

Conserved Domains (1) summary

cl21511
Location:73 → 418

PEMT; Phospholipid methyltransferase

RNA

NR_102367.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AP003068

Related

ENST00000529601.5