Gene Gene information from NCBI Gene database.
Entrez ID 6399
Gene name Trafficking protein particle complex subunit 2
Gene symbol TRAPPC2
Synonyms (NCBI Gene)
MIP2ASEDLSEDTTRAPPC2P1TRS20ZNF547LhYP38334
Chromosome X
Chromosome location Xp22.2
Summary 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-
SNPs SNP information provided by dbSNP.
14
SNP ID Visualize variation Clinical significance Consequence
rs104894948 A>G Pathogenic Coding sequence variant, missense variant
rs104894949 G>T Pathogenic Coding sequence variant, stop gained
rs122460156 G>A Pathogenic Coding sequence variant, stop gained
rs587776748 AA>- Pathogenic Stop gained, coding sequence variant
rs587776749 CA>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
928
miRTarBase ID miRNA Experiments Reference
MIRT030856 hsa-miR-21-5p Microarray 18591254
MIRT050252 hsa-miR-25-3p CLASH 23622248
MIRT049775 hsa-miR-92a-3p CLASH 23622248
MIRT049775 hsa-miR-92a-3p CLASH 23622248
MIRT690538 hsa-miR-4797-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IMP 10431248
GO:0005515 Function Protein binding IPI 21525244, 25416956, 25918224, 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 25918224
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300202 23068 ENSG00000196459
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DI81
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
PF04628 Sedlin_N 9 136 Sedlin, N-terminal conserved region Family
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
Sequence length 140
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Connective tissue disorder Likely pathogenic rs104894948 RCV002276543
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 4 Pathogenic rs587776751 RCV002286695
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepiphyseal dysplasia tarda Pathogenic; Likely pathogenic rs587777330, rs587776748, rs587776749, rs587776750, rs587776751, rs587776752, rs104894948, rs122460156, rs104894949, rs587776753, rs587776754, rs1602717698, rs1602717625, rs2046290303, rs1602708047
View all (1 more)
RCV000114971
RCV000012263
RCV000012264
RCV000012265
RCV000128610
View all (11 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal dysplasia tarda, X-linked Pathogenic rs2518619830, rs587776752, rs2518618741 RCV002465374
RCV001807724
RCV003325299
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CONNECTIVE TISSUE DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Developmental Disabilities Developmental disability Pubtator 29391579 Associate
★☆☆☆☆
Found in Text Mining only
Dyschondroplasias Dyschondroplasias CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Growth Disorders Growth disorder Pubtator 33726005 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 21858081
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 29391579 Associate
★☆☆☆☆
Found in Text Mining only
Melnick-Needles Syndrome Melnick-Needles Syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Mental Retardation Mental retardation BEFREE 21858081
★☆☆☆☆
Found in Text Mining only
Microcephaly Microcephaly BEFREE 21858081
★☆☆☆☆
Found in Text Mining only
Mucopolysaccharidosis IV Mucopolysaccharidosis BEFREE 11443194
★☆☆☆☆
Found in Text Mining only
Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia CTD_human_DG
★☆☆☆☆
Found in Text Mining only