SHCBP1

Chr 16

SHC binding and spindle associated 1

ENSG00000171241UniProt: Q8NEM2

The SHCBP1 protein enables SH2 domain binding and acts as a positive regulator of fibroblast growth factor signaling in neural progenitor cells, controlling cellular proliferation, growth and differentiation. Currently, no definitive disease associations have been established for SHCBP1 mutations. The gene shows tolerance to loss-of-function variants based on population genetics data.

Summary from RefSeq, UniProt
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0
Active trials
20
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.77
LOEUF
—
Mechanism
Clinical Summary— SHCBP1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.77LOEUF
pLI 0.000
Z-score 2.61
OE 0.51 (0.35–0.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.20Z-score
OE missense 0.82 (0.75–0.91)
295 obs / 359.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.51 (0.35–0.77)
0≤0.351.4
Missense OE0.82 (0.75–0.91)
0≤0.61.4
Synonymous OE0.81
0≤1.21.6
LoF obs/exp: 17 / 33.3Missense obs/exp: 295 / 359.1Syn Z: 1.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SHCBP1 · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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