TULP4

Chr 6

TUB like protein 4

Also known as: TUSP

NCBI Gene: 56995ENSG00000130338UniProt: Q9NRJ4

Predicted to be involved in protein ubiquitination. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

343
ClinVar variants
27
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— TULP4
📋
ClinVar Variants
27 Pathogenic / Likely Pathogenic· 292 VUS of 343 total submissions
Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 502

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

343 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic25
Likely Pathogenic2
VUS292
Likely Benign21
Benign3
25
Pathogenic
2
Likely Pathogenic
292
VUS
21
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
25
0
25
Likely Pathogenic
0
0
2
0
2
VUS
1
283
8
0
292
Likely Benign
0
13
1
7
21
Benign
0
0
0
3
3
Total12963610343

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

View in ClinVar →

Protein Context — Lollipop Plot

TULP4 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Effects of Tulp4 deficiency on murine embryonic development and adult phenotype.
Jäger R et al.·Microsc Res Tech
2024
Fine Mapping of 6q23.1 Identifies TULP4 as Contributing to Clefts.
Vieira AR et al.·Cleft Palate Craniofac J
2015
Whole Exome Sequencing Identifies Damaging Variants in Indonesians with Clefts.
Aladenika E et al.·Cleft Palate Craniofac J
2025
Clinical presentation and genetic profiles of Chinese patients with velocardiofacial syndrome in a large referral centre.
Wu D et al.·J Genet
2019Cohort
Mesenchymal Stem Cell-Derived Extracellular Vesicles Carrying Circ-Tulp4 Attenuate Diabetes Mellitus with Nonalcoholic Fatty Liver Disease by Inhibiting Cell Pyroptosis through the HNRNPC/ABHD6 Axis.
Han JJ et al.·Tissue Eng Regen Med
2025
Copy number variants in patients with short stature.
van Duyvenvoorde HA et al.·Eur J Hum Genet
2014Cohort
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.
Conte F et al.·Hum Genet
2016Cohort
Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations.
Gowans LJ et al.·J Dent Res
2016
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma.
Martinelli C et al.·Cancer Genomics Proteomics
2020Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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