1. Gene
  2. DEF8 - differentially expressed in FDCP 8 homolog Gene

DEF8 - differentially expressed in FDCP 8 homolog Gene

中文名称:在 FDCP 8 同系物中差异表达

种属: Homo sapiens

基因 ID: 54849 | 基因类型: protein coding

关于 DEF8

This gene has 29 transcripts (splice variants), 197 orthologues and 4 paralogues. Ubiquitous expression in lymph node (RPKM 14.4), appendix (RPKM 9.2) and 25 other tissues.

功能概要

预测可启用金属离子结合活性。预计参与溶酶体定位;正向调节骨吸收;和荷叶边组件的正调节。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable metal ion binding activity. Predicted to be involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. [provided by Alliance of Genome Resources, Apr 2022]

DEF8 基因产物(9)

mRNA Protein Name
NM_001242816.2 NP_001229745.1 differentially expressed in FDCP 8 homolog isoform 3
NM_001242817.2 NP_001229746.1 differentially expressed in FDCP 8 homolog isoform 4
NM_001242818.2 NP_001229747.1 differentially expressed in FDCP 8 homolog isoform 5
NM_001242819.1 NP_001229748.1 differentially expressed in FDCP 8 homolog isoform 6
NM_001242820.2 NP_001229749.1 differentially expressed in FDCP 8 homolog isoform 5
NM_001242821.2 NP_001229750.1 differentially expressed in FDCP 8 homolog isoform 2
NM_001242822.2 NP_001229751.1 differentially expressed in FDCP 8 homolog isoform 2
NM_017702.4 NP_060172.1 differentially expressed in FDCP 8 homolog isoform 2
NM_207514.3 NP_997397.1 differentially expressed in FDCP 8 homolog isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

DEF8 蛋白结构

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (200 - 251)

zf-RING_9

zf-RING_9: Putative zinc-RING and/or ribbon (295 - 498)

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

differentially expressed in FDCP 8 homolog

DEF-8

关联疾病

疾病名称 别名
Photoallergic Dermatitis

Dermatitis, Photoallergic

Photoallergic Contact Dermatitis

Photoallergic Eczema

Photo-Allergic Contact Eczema

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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
Macaca mulatta DEF8 VGNC VGNC:71712
Bos taurus DEF8 VGNC VGNC:27987
Felis catus DEF8 VGNC VGNC:61426
Rattus norvegicus DEF8 RGD RGD:1309008
Mus musculus DEF8 MGD MGI:1346331
Canis familiaris DEF8 VGNC VGNC:39875