Gene
VWA8
von Willebrand factor A domain containing 8
- HGNC 29071↗(opens in a new tab)
- Ensembl gene ENSG00000102763↗(opens in a new tab)
- NCBI Gene 23078↗(opens in a new tab)
Summary
- Cytogenetic location
- 13q14.11
- Coordinates
- Chromosome 13: 41,566,835–41,961,109 (GRCh38)
- Exons
- 45 exons across 394.3 kb
- Protein
- 1,905 amino acids
- Also known as
- P7BP2
- Previous symbols
- KIAA0564
- MANE Select transcript
- ENST00000379310.8NM_015058.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Retinitis Pigmentosa
One of 77 genes linked to it
A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.
- 1 GenCC submitter rates it definitive or strong
How VWA8 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 7.2 kb of the gene's 394.3 kb; 5,718 of those bases code for the protein.
Genes linked to the same conditions
- ABCA4ATP binding cassette subfamily A member 4Shares 1 condition
- AGBL5AGBL carboxypeptidase 5Shares 1 condition
- AHRaryl hydrocarbon receptorShares 1 condition
- ARHGEF18Rho/Rac guanine nucleotide exchange factor 18Shares 1 condition
- ARL2BPARF like GTPase 2 binding proteinShares 1 condition
- ARL3ARF like GTPase 3Shares 1 condition
- ARL6ARF like GTPase 6Shares 1 condition
- BBS2Bardet-Biedl syndrome 2Shares 1 condition
- BEST1bestrophin 1Shares 1 condition
- CA4carbonic anhydrase 4Shares 1 condition
- CC2D2Acoiled-coil and C2 domain containing 2AShares 1 condition
- CDHR1cadherin related family member 1Shares 1 condition
Traits linked to VWA8
The Human Phenotype Ontology lists these as features of the rare conditions VWA8 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). VWA8 gene: von Willebrand factor A domain containing 8. Retrieved 17 October 2026, from https://dantelabs.com/genes/vwa8
Dante Labs. VWA8 gene: von Willebrand factor A domain containing 8 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/vwa8
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