TRAPPC12 Chromosome 2
Trafficking protein particle complex subunit 12
Upload your DNA to see your personal genotypes for variants in TRAPPC12.
What This Gene Does
Involved in several processes, including endoplasmic reticulum to Golgi vesicle-mediated transport; positive regulation of protein localization to kinetochore; and regulation of kinetochore assembly. Located in several cellular components, including endoplasmic reticulum-Golgi intermediate compartment; kinetochore; and perinuclear region of cytoplasm. Part of TRAPP complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|Trafficking protein particle complex subunits"
Locus Type
gene with protein product
Location
2p25.3
Ensembl
ENSG00000171853
Associated Conditions (6)
Inborn genetic diseases
TRAPPC12-related disorder
Severe hydrocephalus
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Progressive childhood encephalopathy
Gastric cancer
Key Variants
RS1023943999
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS111556571
Conflicting classifications of pathogenicity
Health Risk
RS114907951
Conflicting classifications of pathogenicity
Inborn genetic diseases, TRAPPC12-related disorder, Inborn genetic diseases
Health Risk
RS145175293
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150167013
Conflicting classifications of pathogenicity
TRAPPC12-related disorder, TRAPPC12-related disorder
Health Risk
RS371884821
Conflicting classifications of pathogenicity
Severe hydrocephalus, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, TRAPPC12-related disorder
Health Risk
RS773157680
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1200912683
Likely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Health Risk
RS1553309983
Likely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Health Risk
RS1572217664
Likely pathogenic
Health Risk
RS2528226967
Likely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Health Risk
RS2528802018
Likely pathogenic
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1023943999 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS111556571 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS114907951 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TRAPPC12-related disorder, Inborn genetic diseases |
| RS145175293 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150167013 | Health Risk | Conflicting classifications of pathogenicity | TRAPPC12-related disorder, TRAPPC12-related disorder |
| RS371884821 | Health Risk | Conflicting classifications of pathogenicity | Severe hydrocephalus, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, TRAPPC12-related disorder |
| RS773157680 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1200912683 | Health Risk | Likely pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS1553309983 | Health Risk | Likely pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS1572217664 | Health Risk | Likely pathogenic | — |
| RS2528226967 | Health Risk | Likely pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS2528802018 | Health Risk | Likely pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS369187357 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS375354960 | Health Risk | Likely pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS755967000 | Health Risk | Likely pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS757636155 | Health Risk | Likely pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS779358370 | Health Risk | Likely pathogenic | TRAPPC12-related disorder, TRAPPC12-related disorder |
| RS1135401749 | Health Risk | Pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Progressive childhood encephalopathy, TRAPPC12-related disorder |
| RS1378178272 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553326322 | Health Risk | Pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS1572101517 | Health Risk | Pathogenic | — |
| RS2528224626 | Health Risk | Pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS2528233843 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS756361030 | Health Risk | Pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS764323391 | Health Risk | Pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS772333765 | Health Risk | Pathogenic | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Gastric cancer, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS768950892 | Health Risk | Pathogenic/Likely pathogenic | Progressive childhood encephalopathy, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Inborn genetic diseases |