VWA8 (von Willebrand factor A domain containing 8)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23078
Gene name Gene Name - the full gene name approved by the HGNC.
Von Willebrand factor A domain containing 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VWA8
Synonyms (NCBI Gene) Gene synonyms aliases
KIAA0564, P7BP2, RP97
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.11
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs73464952 C>G,T Likely-pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs138075452 C>T Likely-pathogenic Missense variant, coding sequence variant
rs370112959 G>A Likely-pathogenic Stop gained, coding sequence variant, genic downstream transcript variant
rs372532526 C>T Likely-pathogenic Coding sequence variant, synonymous variant
rs1566417012 A>G Likely-pathogenic Genic downstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT028655 hsa-miR-30a-5p Proteomics 18668040
MIRT032378 hsa-let-7b-5p Proteomics 18668040
MIRT036401 hsa-miR-1227-3p CLASH 23622248
MIRT036258 hsa-miR-1229-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 30204880
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617509 29071 ENSG00000102763
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID A3KMH1
Protein name von Willebrand factor A domain-containing protein 8 (PEX7-binding protein 2) (P7BP2)
Protein function Exhibits ATPase activity in vitro.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07728 AAA_5 105 → 261 AAA domain (dynein-related subfamily) Domain
PF07728 AAA_5 442 → 603 AAA domain (dynein-related subfamily) Domain
PF07728 AAA_5 776 → 923 AAA domain (dynein-related subfamily) Domain
Tissue specificity TISSUE SPECIFICITY: In fetal eye, it is highly expressed in the retina while expression is low in the cornea, sclera and lens. {ECO:0000269|PubMed:37012052}.
Sequence 
MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNI
GDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQDVFLIGPPGPLRRSIA
MQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEK
AERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIA
LGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTL
CSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLK
RFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDR
FIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTAR
DLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYD
GSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVIGSTAHQWLGPEFL
TMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTR
QLLRISRRLSQYPNENLHSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELK
DYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDMLKDFLLGEHLLLV
GNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKL
GHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMI
VLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNVPEPILQKLVAAFG
ELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTL
HKYGIPIGAKPTSVQLAKELTLPEQTFMGYWTIGQARSGMQKLLCPVETHHIDIKGPALI
NIQEYPIERHEERSLNFTEECASWRIPLDEINIICDIATSHENEQNTLYVVTCNPASLYF
MNMTGKSGFFVDFFDIFPRTANGVWHPFVTVAPLGSPLKGQVVLHEQQSNVILLLDTTGR
ALHRLILPSEKFTSKKPFWWNKEEAETYKMCKEFSHKNWLVFYKEKGNSLTVLDVLEGRT
HTISLPINLKTVFLVAEDKWLLVESKTNQKYLLTKPAHIESEGSGVCQLYVLKEEPPSTG
FGVTQETEFSIPHKISSDQLSSEHLSSAVEQKIASPNRILSDEKNYATIVVGFPDLMSPS
EVYSWKRPSSLHKRSGTDTSFYRGKKKRGTPKQSNCVTLLDTNQVVRILPPGEVPLKDIY
PKDVTPPQTSGYIEVTDLQSKKLRYIPIPRSESLSPYTTWLSTISDTDALLAEWDKSGVV
TVDMGGHIRLWETGLERLQRSLMEWRNMIGQDDRNMQITINRDSGEDVSSPKHGKEDPDN
MPHVGGNTWAGGTGGRDTAGLGGKGGPYRLDAGHTVYQVSQAEKDAVPEEVKRAAREMGQ
RAFQQRLKEIQMSEYDAATYERFSGAVRRQVHSLRIILDNLQAKGKERQWLRHQATGELD
DAKIIDGLTGEKAIYKRRGELEPQLGSPQQKPKRLRLVVDVSGSMYRFNRMDGRLERTME
AVCMVMEAFENYEEKFQYDIVGHSGDGYNIGLVPMNKIPKDNKQRLEILKTMHAHSQFCM
SGDHTLEGTEHAIKEIVKEEADEYFVIVLSDANLSRYGIHPAKFAQILTRDPQVNAFAIF
IGSLGDQATRLQRTLPAGRSFVAMDTKDIPQILQQIFTSTMLSSV
Sequence length 1905
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Retinitis Pigmentosa retinitis pigmentosa 97 N/A N/A GenCC
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 20528957
Autistic Disorder Associate 20663923
Bipolar Disorder Associate 20528957
Breast Neoplasms Associate 33126731
COVID 19 Associate 34775353
Emphysema Associate 25006744
Epstein Barr Virus Infections Associate 39684278
Leukemia Myeloid Acute Associate 24378410
Major Affective Disorder 2 Associate 20528957
Migraine Disorders Associate 20528957