YIF1B

Chr 19AR

Yip1 interacting factor homolog B, membrane trafficking protein

Also known as: FinGER8, KABAMAS

NCBI Gene: 90522ENSG00000167645UniProt: Q5BJH7OMIM: 619109

Involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Kaya-Barakat-Masson syndromeMIM #619125
AR

Clinical highlights

Gene-disease validity (ClinGen)
Kaya-Barakat-Masson syndrome · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.10
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — YIF1B
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.10LOEUF
pLI 0.000
Z-score 1.29
OE 0.63 (0.38–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.40Z-score
OE missense 0.72 (0.63–0.83)
142 obs / 197.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.38–1.10)
0≤0.351.4
Missense OE?0.72 (0.63–0.83)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 9 / 14.3Missense obs/exp: 142 / 197.5Syn Z: 0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

YIF1B · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients