1. Gene
  2. VWA8 - von Willebrand factor A domain containing 8 Gene

VWA8 - von Willebrand factor A domain containing 8 Gene

中文名称:含 von Willebrand 因子 A 结构域 8

种属: Homo sapiens

同用名: P7BP2; KIAA0564

基因 ID: 23078 | 基因类型: protein coding

关于 VWA8

Cytogenetic location: 13q14.11 Genomic coordinates (GRCh38): 13:41,566,835-41,961,109 (from NCBI)

This gene has 4 transcripts (splice variants) and 206 orthologues. Ubiquitous expression in kidney (RPKM 6.4), fat (RPKM 4.0) and 25 other tissues.

功能概要

预测启用 ATP 绑定活动。位于线粒体和过氧化物酶体中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable ATP binding activity. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Apr 2022]

VWA8 基因产物(2)

mRNA Protein Name
NM_001009814.2 NP_001009814.1 von Willebrand factor A domain-containing protein 8 isoform b precursor
NM_015058.2 NP_055873.1 von Willebrand factor A domain-containing protein 8 isoform a precursor
基因本体论
  • 分子功能
  • 细胞组分
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
30204880 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
30204880 GOA
located in peroxisome IDA
IDA: 通过直接分析推断
30204880 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

VWA8 蛋白结构

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (105 - 261)

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (442 - 600)

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (776 - 914)

VWA_2

VWA_2: von Willebrand factor type A domain (1717 - 1896)

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  • 1500
  • 1800
  • 1905 a.a.
蛋白主名 其他名称

von Willebrand factor A domain-containing protein 8

PEX7-binding protein 2

关联疾病

疾病名称 别名
Orofacial Cleft 1

OFC1

Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 1

Orofacial Cleft, Nonsyndromic

Ofc

Cleft Lip/Palate, Nonsyndromic

Orofacial Cleft-1

Nonsyndromic Cleft Lip With Or Without Cleft Palate 1

Nonsyndromic Cleft Lip Palate

Otofaciocervical Syndrome 1

Venezuelan Hemorrhagic Fever

Guanarito Hemorrhagic Fever

Vehf - [Venezuelan Haemorrhagic Fever]

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

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
Mus musculus VWA8 MGD MGI:1919008
Felis catus VWA8 VGNC VGNC:66994
Bos taurus VWA8 VGNC VGNC:36856
Canis familiaris VWA8 VGNC VGNC:48325
Rattus norvegicus VWA8 RGD RGD:1308772
Macaca mulatta VWA8 VGNC VGNC:79773