1. Gene
  2. TM7SF2 - transmembrane 7 superfamily member 2 Gene

TM7SF2 - transmembrane 7 superfamily member 2 Gene

中文名称:跨膜 7 超家族成员 2

种属: Homo sapiens

同用名: ANG1; C14SR; NET47; DHCR14A

基因 ID: 7108 | 基因类型: protein coding

关于 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.

功能概要

启用 delta14-甾醇还原酶活性。参与胆固醇的生物合成过程。位于内质网。受体复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables delta14-sterol reductase activity IDA
IDA: 通过直接分析推断
16784888 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cholesterol biosynthetic process IDA
IDA: 通过直接分析推断
16784888 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of receptor complex IDA
IDA: 通过直接分析推断
23382219 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TM7SF2 蛋白结构

ERG4_ERG24

ERG4_ERG24: Ergosterol biosynthesis ERG4/ERG24 family (56 - 418)

  • 0
  • 100
  • 200
  • 300
  • 418 a.a.
蛋白主名 其他名称

delta(14)-sterol reductase TM7SF2

3-beta-hydroxysterol Delta (14)-reductase

TM7SF2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TM7SF2 O76062 LCE2C Homo sapiens Q5TA81 32296183
种属内
TM7SF2 O76062 LCE2C Homo sapiens Q5TA81 32296183
种属内
TM7SF2 O76062 LCE2C Homo sapiens Q5TA81 32296183
种属内
TM7SF2 O76062 CYSRT1 Homo sapiens A8MQ03 32296183
种属内
TM7SF2 O76062 CYSRT1 Homo sapiens A8MQ03 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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