Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

NEDIDHA

Chr 3AR

dedicator of cytokinesis 3

Also known as: MOCA, NEDIDHA, PBP

DOCK3 is a guanine nucleotide exchange factor that activates the small G protein Rac1 and induces axonal outgrowth in the central nervous system by recruiting the WAVE protein complex to cell membranes. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia.

OMIMResearchSummary from RefSeq, OMIM
AR1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDIDHA?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NEDIDHA · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 2 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found