Gene Gene information from NCBI Gene database.
Entrez ID 122553
Gene name Trafficking protein particle complex subunit 6B
Gene symbol TRAPPC6B
Synonyms (NCBI Gene)
NEDMEBATPC6
Chromosome 14
Chromosome location 14q21.1
Summary TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs377626365 G>A Pathogenic Coding sequence variant, stop gained
rs1347223331 T>C Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
384
miRTarBase ID miRNA Experiments Reference
MIRT718381 hsa-miR-8485 HITS-CLIP 19536157
MIRT718380 hsa-miR-208a-5p HITS-CLIP 19536157
MIRT718379 hsa-miR-208b-5p HITS-CLIP 19536157
MIRT718378 hsa-miR-377-3p HITS-CLIP 19536157
MIRT718377 hsa-miR-5096 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16908848, 18930054
GO:0005737 Component Cytoplasm NAS 27066478
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005794 Component Golgi apparatus IEA
GO:0005801 Component Cis-Golgi network IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610397 23066 ENSG00000182400
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86SZ2
Protein name Trafficking protein particle complex subunit 6B (TRAPP complex subunit 6B)
Protein function Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic (PubMed:16025134, PubMed:16828797). Specifically involved in the early development of neural circuitry, likely by controlli
PDB 2BJN , 2CFH , 3KXC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04051 TRAPP 7 156 Transport protein particle (TRAPP) component Family
Tissue specificity TISSUE SPECIFICITY: Both isoforms are expressed ubiquitously (at transcript level), isoform 1 being the most predominant (PubMed:28626029). Expressed in the fetal brain and different regions of the adult brain and spinal cord (PubMed:28626029). {ECO:00002
Sequence
Sequence length 158
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.
28
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colorectal cancer Pathogenic rs761878844 RCV005930098
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy Pathogenic; Likely pathogenic rs761878844, rs1347223331, rs377626365, rs758863393, rs1171802070 RCV005356071
RCV000578212
RCV000578216
RCV001251183
RCV002471078
TRAPPC6B-related disorder Likely pathogenic; Pathogenic rs2053152483, rs1171802070 RCV003400080
RCV004731116
TRAPPC6B-related neurodevelopmental disorder Likely pathogenic; Pathogenic rs1171802070 RCV001270823
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs150886646 RCV005868650
Cholangiocarcinoma Benign rs150886646 RCV005868652
Lung cancer Uncertain significance rs199502988 RCV005911242
Nonpapillary renal cell carcinoma Benign rs150886646 RCV005868649