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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6399
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Trafficking protein particle complex subunit 2 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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TRAPPC2 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334 |
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Chromosome
Chromosome number
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X |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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Xp22.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c- |
| UniProt ID |
P0DI81
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| Protein name |
Trafficking protein particle complex subunit 2 (Sedlin) |
| Protein 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. |
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
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PF04628
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Sedlin_N |
9 → 136 |
Sedlin, N-terminal conserved region |
Family |
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| Tissue specificity |
TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, fetal cartilage, fibroblasts, placenta and lymphocytes. {ECO:0000269|PubMed:10431248}. |
| Sequence |
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| Sequence length |
140 |
| Interactions |
View interactions
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
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| Disease merge term |
Disease name |
dbSNP ID |
References |
| Spondyloepiphyseal Dysplasia Tarda |
spondyloepiphyseal dysplasia tarda |
rs1602717625, rs587776752, rs2046290303, rs1602708047, rs104894948, rs122460156, rs104894949, rs587776748, rs587776753, rs587776749, rs587776754, rs587776750, rs587777330, rs587776751, rs1602717698 |
N/A |
| Connective Tissue Disease |
Connective tissue disorder |
rs104894948 |
N/A |
| Hereditary spastic paraplegia |
Hereditary spastic paraplegia 4 |
rs587776751 |
N/A |
| Spondyloenchondrodysplasia |
spondyloepiphyseal dysplasia tarda, x-linked |
rs587776752 |
N/A |
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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.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Spondyloepiphyseal dysplasia congenita |
spondyloepiphyseal dysplasia congenita |
N/A |
N/A |
ClinVar |
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