VWA8 - von Willebrand factor A domain containing 8 Gene

Also Known as P7BP2; KIAA0564

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 23078

About 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.

Summary

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

VWA8 Products (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
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
30204880 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in mitochondrion IDA
IDA: Inferred from direct assay
30204880 GOA
located in peroxisome IDA
IDA: Inferred from direct assay
30204880 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

VWA8 Protein Structure

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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  • 1905 a.a.
Protein Preferred Names Protein Names

von Willebrand factor A domain-containing protein 8

  • PEX7-binding protein 2

関連疾患

Diseases Alias
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

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

Orthologs Information

生物種 Symbol 由来 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
Others VWA8 NCBI