SDF4

Chr 1

stromal cell derived factor 4

Also known as: Cab45, SDF-4

NCBI Gene: 51150ENSG00000078808UniProt: Q9BRK5

This gene encodes a stromal cell derived factor that is a member of the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. [provided by RefSeq, Sep 2011]

ResearchGenerating clinical summary…
2
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.76
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.76LOEUF
pLI 0.009
Z-score 2.24
OE 0.39 (0.21–0.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.55Z-score
OE missense 0.90 (0.81–1.01)
227 obs / 251.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.21–0.76)
0≤0.351.4
Missense OE?0.90 (0.81–1.01)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 6 / 15.5Missense obs/exp: 227 / 251.7Syn Z: -0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SDF4 · protein map & ClinVar variants

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

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