TM7SF2 - transmembrane 7 superfamily member 2 Gene

Homo sapiens

Also known as ANG1; C14SR; NET47; DHCR14A

Gene ID: 7108 | Gene type: protein coding

About TM7SF2

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,111,872-65,116,230 (from NCBI)

This gene has 26 transcripts (splice variants), 184 orthologues and 2 paralogues. Broad expression in adrenal (RPKM 80.1), fat (RPKM 50.5) and 20 other tissues.

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, Apr 2022]

TM7SF2 Products(2)

mRNA	Protein	Name
NM_001277233.2	NP_001264162.1	delta(14)-sterol reductase TM7SF2 isoform 2
NM_003273.6	NP_003264.2	delta(14)-sterol reductase TM7SF2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables delta14-sterol reductase activity	IDA IDA: Inferred from direct assay	16784888	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cholesterol biosynthetic process	IDA IDA: Inferred from direct assay	16784888	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TM7SF2 Protein Structure

ERG4_ERG24

0
100
200
300
418 a.a.

Protein Preferred Names

Protein Names

delta(14)-sterol reductase TM7SF2

3-beta-hydroxysterol Delta (14)-reductase

Related Diseases

Diseases

Alias

Greenberg Dysplasia

Hem Dysplasia	Greenberg Skeletal Dysplasia
Hem Skeletal Dysplasia	GRBGD
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia	Moth-Eaten Skeletal Dysplasia
Chondrodystrophy, Hydropic And Prenatally Lethal Type	Hydrops-Ectopic Calcification-Motheaten Syndrome
Skeletal Dysplasia, Greenberg Type	Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia	Hem
Hem/Greenberg Dysplasia	Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia

Pelger-Huet Anomaly

PHA	Pelger-Huët Anomaly
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities	Pelger Huet Anomaly
Pelger-Huet Nuclear Anomaly

Ck Syndrome

CKS	X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome
Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation

Skin Papilloma

Cutaneous Papilloma	Papilloma Of Skin
Papilloma Skin

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14612	TM7SF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TM7SF2	RGD	RGD:1311205
Bos taurus	TM7SF2	VGNC	VGNC:35910
Macaca mulatta	TM7SF2	VGNC	VGNC:101410
Felis catus	TM7SF2	VGNC	VGNC:81926
Mus musculus	TM7SF2	MGD	MGI:1920416
Canis familiaris	TM7SF2	VGNC	VGNC:47413

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