Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51399
Gene name Gene Name - the full gene name approved by the HGNC.
Trafficking protein particle complex subunit 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRAPPC4
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-104, HSPC172, NEDESBA, PTD009, SBDN, SYNBINDIN, TRS23
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610971 19943 ENSG00000196655
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Neurodevelopmental Disorder With Microcephaly, Spasticity, And Brain Anomalies neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies rs375776811 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation syndromic intellectual disability N/A N/A GenCC
Associations from Text Mining Disease 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