1. Gene
  2. FAF2 - Fas associated factor family member 2 Gene

FAF2 - Fas associated factor family member 2 Gene

中文名称:Fas 相关因子家族成员 2

种属: Homo sapiens

同用名: ETEA; UBXD8; UBXN3B

基因 ID: 23197 | 基因类型: protein coding

关于 FAF2

Cytogenetic location: 5q35.2 Genomic coordinates (GRCh38): 5:176,448,385-176,510,074 (from NCBI)

This gene has 6 transcripts (splice variants), 208 orthologues and 4 paralogues. Ubiquitous expression in testis (RPKM 15.6), thyroid (RPKM 13.8) and 25 other tissues.

功能概要

与正常个体相比,由该基因编码的蛋白质在特应性皮炎 (AD) 患者的外周血中高度表达。它可能在调节在 AD 患者的 T 细胞和嗜酸性粒细胞中观察到的细胞凋亡抗性方面发挥作用。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to Apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008]

FAF2 基因产物(1)

mRNA Protein Name
NM_014613.3 NP_055428.1 FAS-associated factor 2
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 lipase binding IDA
IDA: 通过直接分析推断
23297223 GOA
enables lipase inhibitor activity IDA
IDA: 通过直接分析推断
23297223 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18711132 GOA
enables protein-macromolecule adaptor activity IDA
IDA: 通过直接分析推断
34739333 GOA
enables ubiquitin binding IDA
IDA: 通过直接分析推断
18775313 GOA
enables ubiquitin protein ligase binding IDA
IDA: 通过直接分析推断
18775313 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERAD pathway IMP
IMP: 通过突变表型推断
24215460 GOA
acts upstream of or within lipid droplet organization IMP
IMP: 通过突变表型推断
23297223 GOA
involved in retrograde protein transport, ER to cytosol IMP
IMP: 通过突变表型推断
25660456 GOA
involved in stress granule disassembly IDA
IDA: 通过直接分析推断
34739333 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of VCP-NPL4-UFD1 AAA ATPase complex IDA
IDA: 通过直接分析推断
18775313 GOA
is active in endoplasmic reticulum IDA
IDA: 通过直接分析推断
34739333 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
23297223 GOA
located in lipid droplet IDA
IDA: 通过直接分析推断
14741744 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

FAF2 蛋白结构

UBA_4

UBA_4: UBA-like domain (15 - 55)

UBX

UBX: UBX domain (358 - 439)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 445 a.a.
蛋白主名 其他名称

FAS-associated factor 2

UBX domain containing 8

FAF2 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
FAF2 Q96CS3 VCP Homo sapiens P55072 29997244
种属内
FAF2 Q96CS3 VCP Homo sapiens P55072 18775313
种属内
FAF2 Q96CS3 VCP Homo sapiens P55072 18711132
种属内
FAF2 Q96CS3 VCP Homo sapiens P55072 22119785
种属内
FAF2 Q96CS3 VCP Homo sapiens P55072 29997244
种属内
FAF2 Q96CS3 UBAC2 Homo sapiens Q8NBM4 22119785
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
Dermatitis

Eczema

Skin Inflammation

Inflammatory Dermatosis

Vulvar Syringoma
Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 1

Ibmpfd1

Msp1

Multisystem Proteinopathy 1

Neuronopathy, Distal Hereditary Motor, Type Viii

Autosomal Dominant Congenital Benign Spinal Muscular Atrophy

HMN8

Dhmn8

Neuropathy, Distal Hereditary Motor, Type Viii

Distal Hereditary Motor Neuronopathy Type 8

Autosomal Dominant Benign Distal Spinal Muscular Atrophy

Congenital Benign Spinal Muscular Atrophy With Contractures

Congenital Nonprogressive Spinal Muscular Atrophy

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Spinal Muscular Atrophy, Congenital Benign, With Contractures

Distal Hereditary Motor Neuropathy Type Viii

Neuronopathy, Distal Hereditary Motor, 8

Distal Spinal Muscular Atrophy, Congenital Non-Progressive

Spinal Muscular Atrophy Congenital Benign With Contractures

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
Canis familiaris FAF2 VGNC VGNC:40568
Bos taurus FAF2 VGNC VGNC:28706
Rattus norvegicus FAF2 RGD RGD:1306577
Mus musculus FAF2 MGD MGI:1923827
Felis catus FAF2 VGNC VGNC:62041
Macaca mulatta FAF2 VGNC VGNC:72332