Gene Gene information from NCBI Gene database.
Entrez ID 51399
Gene name Trafficking protein particle complex subunit 4
Gene symbol TRAPPC4
Synonyms (NCBI Gene)
CGI-104HSPC172NEDESBAPTD009SBDNSYNBINDINTRS23
Chromosome 11
Chromosome location 11q23.3
miRNA miRNA information provided by mirtarbase database.
198
miRTarBase ID miRNA Experiments Reference
MIRT642887 hsa-miR-8063 HITS-CLIP 23824327
MIRT642886 hsa-miR-4698 HITS-CLIP 23824327
MIRT642885 hsa-miR-6847-3p HITS-CLIP 23824327
MIRT642884 hsa-miR-1206 HITS-CLIP 23824327
MIRT642883 hsa-miR-6853-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 17110339, 21826244
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm NAS 27066478
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610971 19943 ENSG00000196655
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y296
Protein name Trafficking protein particle complex subunit 4 (Hematopoietic stem/progenitor cell protein 172) (Synbindin) (TRS23 homolog)
Protein function Core component of the TRAPP complexes which has a function of guanine nucleotide exchange factor activity for Rab1 GTPase (Probable). Plays a role in vesicular transport from endoplasmic reticulum to Golgi and autophagy (PubMed:31794024). May pl
PDB 2J3T , 2JSN , 2ZMV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04099 Sybindin 3 209 Sybindin-like family Family
Sequence
Sequence length 219
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
20
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy Likely pathogenic; Pathogenic rs1943311987, rs375776811, rs1943450738 RCV003330168
RCV001003468
RCV001172280
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies Likely pathogenic; Pathogenic rs375776811 RCV001267711
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign rs61730037 RCV005921906
EBV-positive nodal T- and NK-cell lymphoma Uncertain significance rs781822453 RCV004560076
Gastric cancer Benign rs61730037 RCV005921907
Hepatocellular carcinoma Benign rs61730037 RCV005921905
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 32901138
Cerebellar Diseases Associate 31794024
Colorectal Neoplasms Associate 21826244
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 39787667
Developmental Disabilities Associate 31794024, 39787667
Epilepsy Associate 32901138
Facial Dysmorphism with Multiple Malformations Associate 39787667
Heredodegenerative Disorders Nervous System Associate 32901138
Immunologic Deficiency Syndromes Inhibit 39787667
Intellectual Disability Associate 31794024, 39787667