TM7SF2 - transmembrane 7 superfamily member 2 Gene

Also Known as ANG1; C14SR; NET47; DHCR14A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7108

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	Verweise	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	Verweise	Source
involved in cholesterol biosynthetic process	IDA IDA: Inferred from direct assay	16784888	GOA

Cellular Component GO Annotation	Evidence	Verweise	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
400
418 a.a.

Protein Preferred Names	Protein Names
delta(14)-sterol reductase TM7SF2	3-beta-hydroxysterol Delta (14)-reductase

TM7SF2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	TM7SF2	O76062	LCE2C	Homo sapiens	Q5TA81	Validated Y2H	32296183
Intra	TM7SF2	O76062	LCE2C	Homo sapiens	Q5TA81	Y2H Array	32296183
Intra	TM7SF2	O76062	LCE2C	Homo sapiens	Q5TA81	Y2H Prey Pooling	32296183
Intra	TM7SF2	O76062	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	TM7SF2	O76062	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS14612	TM7SF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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