CSMD1

Chr 8

CUB and Sushi multiple domains 1

Also known as: PPP1R24

NCBI Gene: 64478ENSG00000183117UniProt: Q96PZ7

Predicted to act upstream of or within several processes, including learning or memory; mammary gland branching involved in pregnancy; and reproductive structure development. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research Assistant →
0
Active trials
31
Pubs (1 yr)
4
P/LP submissions
0%
P/LP missense
0.21
LOEUF· LoF intol.
—
Mechanism
Clinical Summary— CSMD1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
4 unique Pathogenic / Likely Pathogenic· 422 VUS of 500 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.21LOEUF
pLI 1.000
Z-score 10.44
OE 0.15 (0.11–0.21)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
-6.87Z-score
OE missense 1.44 (1.39–1.49)
2787 obs / 1936.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.15 (0.11–0.21)
0≤0.351.4
Missense OE1.44 (1.39–1.49)
0≤0.61.4
Synonymous OE1.74
0≤1.21.6
LoF obs/exp: 27 / 176.8Missense obs/exp: 2787 / 1936.4Syn Z: -16.49

ClinVar Variant Classifications

500 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
VUS422
Likely Benign15
Conflicting1
4
Pathogenic
422
VUS
15
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
0
0
0
VUS
0
412
10
0
422
Likely Benign
0
6
1
8
15
Benign
0
0
0
0
0
Conflicting
—1
Total0418158442

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CSMD1 · 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
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
CSMD1 Mutation Related to Immunity Can Be Used as a Marker to Evaluate the Clinical Therapeutic Effect and Prognosis of Patients with Esophageal Cancer
Fan X et al.·Int J Gen Med
2021Cohort
Complement inhibitor CSMD1 modulates epidermal growth factor receptor oncogenic signaling and sensitizes breast cancer cells to chemotherapy
Gialeli C et al.·J Exp Clin Cancer Res
2021
The Role of Csmd1 during Mammary Gland Development
Burgess SJ et al.·Genes (Basel)
2021
CSMD1 Shows Complex Patterns of Somatic Copy Number Alterations and Expressions of mRNAs and Target Micro RNAs in Esophageal Squamous Cell Carcinoma
Hu N et al.·Cancers (Basel)
2022
Inhibition of CUB and sushi multiple domains 1 (CSMD1) expression by miRNA-190a-3p enhances hypertrophic scar-derived fibroblast migration in vitro
Gu S et al.·BMC Genomics
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
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