VWA8 - von Willebrand factor A domain containing 8 Gene

Homo sapiens

Also known as P7BP2; KIAA0564

Gene ID: 23078 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30204880	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
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

VWA_2

0
300
600
900
1200
1500
1800
1905 a.a.

Protein Preferred Names

Protein Names

von Willebrand factor A domain-containing protein 8

PEX7-binding protein 2

Related Diseases

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15731	VWA8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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