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TRAPPC2 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TRAPPC2 (HGNC:23068) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- trafficking protein particle complex subunit 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- SEDL
- Alias symbols
- TRS20, SEDT, MIP-2A, ZNF547L, hYP38334
- %HI
- 21.53(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.75(Read more about gnomAD LOEUF score)
- Cytoband
- Xp22.2
- Genomic Coordinates
-
GRCh37/hg19: chrX:13730364-13752739 NCBI Ensembl UCSC GRCh38/hg38: chrX:13712245-13734620 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001011658.4 ENST00000380579.6 (Read more about MANE Select)
- Function
- Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi. {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- spondyloepiphyseal dysplasia tarda, X-linked Monarch
-
PUBMED:
11252002
Matsui et al. 2001: An intragenic deletion including the 5' untranslated region but also the coding sequence for the first methionine through the 25th alanine was found in a Japanese male with X-linked spondyloepiphyseal dysplasia tarda and his carrier mother, but not in his unaffected sister or uncle.
-
PUBMED:
12919139
Shaw et al. 2003: A 1,335bp intragenic deletion (in5/ex6del), was found in a Belgian patient resulting in X-linked spondyloepiphyseal dysplasia tarda.
-
PUBMED:
11349230
Gedeon et al. 2001: Describes the mutations found in 30 unrelated individuals with X-linked sponkyloepiphyseal dysplasia tarda, including multiple nonsense mutations and two exonic deletions (one involving exon 3, and another involving exon 6).
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
