VNN1

Chr 6

vanin 1

Also known as: HDLCQ8, Tiff66

This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009]

ResearchGenerating clinical summary…
2
Active trials
49
Pubs (1 yr)
P/LP submissions
P/LP missense
1.04
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.04LOEUF
pLI 0.000
Z-score 1.44
OE 0.63 (0.401.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.07Z-score
OE missense 1.01 (0.921.12)
283 obs / 279.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.63 (0.401.04)
00.351.4
Missense OE?1.01 (0.921.12)
00.61.4
Synonymous OE?0.98
01.21.6
LoF obs/exp: 11 / 17.5Missense obs/exp: 283 / 279.8Syn Z: 0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

VNN1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.