VWA8
von Willebrand factor A domain-containing protein 8
Also known as: KIAA0564, P7BP2, VWA8_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- A3KMH1
- Gene
- VWA8
- Ensembl
- ENSG00000102763
- Chromosome
- 13
- Canonical length
- 1905 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Vesicles,Lipid droplets
OverviewNCBI Gene
Predicted to enable ATP hydrolysis activity. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Apr 2025]
Canonical amino-acid sequenceUniProt
1905 residues, UniProt reviewed canonical sequence.
>A3KMH1|VWA8
1 MQSRLLLLGA PGGHGGPASR RMRLLLRQVV QRRPGGDRQR PEVRLLHAGS GADTGDTVNI
61 GDVSYKLKIP KNPELVPQNY ISDSLAQSVV QHLRWIMQKD LLGQDVFLIG PPGPLRRSIA
121 MQYLELTKRE VEYIALSRDT TETDLKQRRE IRAGTAFYID QCAVRAATEG RTLILEGLEK
181 AERNVLPVLN NLLENREMQL EDGRFLMSAE RYDKLLRDHT KKELDSWKIV RVSENFRVIA
241 LGLPVPRYSG NPLDPPLRSR FQARDIYYLP FKDQLKLLYS IGANVSAEKV SQLLSFATTL
301 CSQESSTLGL PDFPLDSLAA AVQILDSFPM MPIKHAIQWL YPYSILLGHE GKMAVEGVLK
361 RFELQDSGSS LLPKEIVKVE KMMENHVSQA SVTIRIADKE VTIKVPAGTR LLSQPCASDR
421 FIQTLSHKQL QAEMMQSHMV KDICLIGGKG CGKTVIAKNF ADTLGYNIEP IMLYQDMTAR
481 DLLQQRYTLP NGDTAWRSSP LVNAALEGKL VLLDGIHRVN AGTLAVLQRL IHDRELSLYD
541 GSRLLREDRY MRLKEELQLS DEQLQKRSIF PIHPSFRIIA LAEPPVIGST AHQWLGPEFL
601 TMFFFHYMKP LVKSEEIQVI KEKVPNVPQE ALDKLLSFTH KLRETQDPTA QSLAASLSTR
661 QLLRISRRLS QYPNENLHSA VTKACLSRFL PSLARSALEK NLADATIEIN TDDNLEPELK
721 DYKCEVTSGT LRIGAVSAPI YNAHEKMKVP DVLFYDNIQH VIVMEDMLKD FLLGEHLLLV
781 GNQGVGKNKI VDRFLHLLNR PREYIQLHRD TTVQTLTLQP SVKDGLIVYE DSPLVKAVKL
841 GHILVVDEAD KAPTNVTCIL KTLVENGEMI LADGRRIVAN SANVNGRENV VVIHPDFRMI
901 VLANRPGFPF LGNDFFGTLG DIFSCHAVDN PKPHSELEML RQYGPNVPEP ILQKLVAAFG
961 ELRSLADQGI INYPYSTREV VNIVKHLQKF PTEGLSSVVR NVFDFDSYNN DMREILINTL
1021 HKYGIPIGAK PTSVQLAKEL TLPEQTFMGY WTIGQARSGM QKLLCPVETH HIDIKGPALI
1081 NIQEYPIERH EERSLNFTEE CASWRIPLDE INIICDIATS HENEQNTLYV VTCNPASLYF
1141 MNMTGKSGFF VDFFDIFPRT ANGVWHPFVT VAPLGSPLKG QVVLHEQQSN VILLLDTTGR
1201 ALHRLILPSE KFTSKKPFWW NKEEAETYKM CKEFSHKNWL VFYKEKGNSL TVLDVLEGRT
1261 HTISLPINLK TVFLVAEDKW LLVESKTNQK YLLTKPAHIE SEGSGVCQLY VLKEEPPSTG
1321 FGVTQETEFS IPHKISSDQL SSEHLSSAVE QKIASPNRIL SDEKNYATIV VGFPDLMSPS
1381 EVYSWKRPSS LHKRSGTDTS FYRGKKKRGT PKQSNCVTLL DTNQVVRILP PGEVPLKDIY
1441 PKDVTPPQTS GYIEVTDLQS KKLRYIPIPR SESLSPYTTW LSTISDTDAL LAEWDKSGVV
1501 TVDMGGHIRL WETGLERLQR SLMEWRNMIG QDDRNMQITI NRDSGEDVSS PKHGKEDPDN
1561 MPHVGGNTWA GGTGGRDTAG LGGKGGPYRL DAGHTVYQVS QAEKDAVPEE VKRAAREMGQ
1621 RAFQQRLKEI QMSEYDAATY ERFSGAVRRQ VHSLRIILDN LQAKGKERQW LRHQATGELD
1681 DAKIIDGLTG EKAIYKRRGE LEPQLGSPQQ KPKRLRLVVD VSGSMYRFNR MDGRLERTME
1741 AVCMVMEAFE NYEEKFQYDI VGHSGDGYNI GLVPMNKIPK DNKQRLEILK TMHAHSQFCM
1801 SGDHTLEGTE HAIKEIVKEE ADEYFVIVLS DANLSRYGIH PAKFAQILTR DPQVNAFAIF
1861 IGSLGDQATR LQRTLPAGRS FVAMDTKDIP QILQQIFTST MLSSVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against VWA8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- tongue: 33 nTPM
- skeletal muscle: 28 nTPM
- liver: 20 nTPM
- kidney: 17 nTPM
- retina: 14 nTPM
- parathyroid gland: 14 nTPM
Single-cell type
- myonuclei: 1,172 nCPM
- rod photoreceptor cells: 867 nCPM
- choroid plexus epithelial cells: 761 nCPM
- cardiomyocytes: 618 nCPM
- neutrophils: 609 nCPM
- cone photoreceptor cells: 557 nCPM
Immune cell
- MAIT T-cell: 1.6 nTPM
- NK-cell: 1.6 nTPM
- naive CD8 T-cell: 1.2 nTPM
- gdT-cell: 1.1 nTPM
- memory CD8 T-cell: 1 nTPM
- naive B-cell: 1 nTPM
Brain region
- choroid plexus: 44 nTPM
- cerebellum: 33 nTPM
- thalamus: 30 nTPM
- basal ganglia: 27 nTPM
- midbrain: 27 nTPM
- pons: 26 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about VWA8.
Disease | AllUniProt
Conditions VWA8 is implicated in, by any mechanism.
- Retinitis pigmentosa 97 (RP97) MIM:620422
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 241 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.15
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.21
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of VWA8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads VWA8 as an antibody target. Whether an autoantibody or antibody against VWA8 could matter depends on whether native VWA8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
VWA8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label VWA8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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