DYNLT4 (dynein light chain Tctex-type 4)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 343521
Gene name Dynein light chain Tctex-type 4
Gene symbol DYNLT4
Synonyms (NCBI Gene)
TCTEX1D4
Chromosome 1
Chromosome location 1p34.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IDA 23789093
GO:0001669 Component Acrosomal vesicle IEA
GO:0005515 Function Protein binding IPI 21382349, 23789093, 32296183
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611713 32315 ENSG00000188396
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5JR98
Protein name Dynein light chain Tctex-type 4 (Protein N22.1) (Tctex-2-beta) (Tctex1 domain-containing protein 4)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03645 Tctex-1 122 → 219 Tctex-1 family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:16982625). Expressed in testis (at protein level) (PubMed:23789093). {ECO:0000269|PubMed:16982625, ECO:0000269|PubMed:23789093}.
Sequence 
MASRPLPPGRQEEENAKDSGRKPSPVRPRGCLPSIDEARPAGPGPAPASRRGSMLGLAAS
FSRRNSLVGPGAGPGGQRPSLGPVPPLGSRVSFSGLPLAPARWVAPSYRTEPVPGERWEA
ARAQRALEAALAAGLHDACYSSDEAARLVRELCEQVHVRLRELSPPRYKLVCSVVLGPRA
GQGVHVVSRALWDVARDGLASVSYTNTSLFAVATVHGLYCE
Sequence length 221
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Motor proteins  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Neurodevelopmental disorder Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations