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Aliases for TRAPPC2 Gene

Aliases for TRAPPC2 Gene

  • Trafficking Protein Particle Complex 2 2 3
  • SEDL 3 4 6
  • Sedlin 3 4
  • SEDT 3 6
  • Trafficking Protein Particle Complex Subunit 2 3
  • Spondyloepiphyseal Dysplasia, Late 2
  • TRAPPC2P1 3
  • HYP38334 3
  • ZNF547L 3
  • MIP2A 3
  • TRS20 3

External Ids for TRAPPC2 Gene

Previous Symbols for TRAPPC2 Gene

  • SEDL

Summaries for TRAPPC2 Gene

Entrez Gene Summary for TRAPPC2 Gene

  • 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-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]

GeneCards Summary for TRAPPC2 Gene

TRAPPC2 (Trafficking Protein Particle Complex 2) is a Protein Coding gene. Diseases associated with TRAPPC2 include spondyloepiphyseal dysplasia tarda and leber hereditary optic neuropathy. GO annotations related to this gene include transcription factor binding and ion channel binding. An important paralog of this gene is TRAPPC2B.

UniProtKB/Swiss-Prot for TRAPPC2 Gene

  • Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi.

Gene Wiki entry for TRAPPC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRAPPC2 Gene

Genomics for TRAPPC2 Gene

Genomic Location for TRAPPC2 Gene

Start:
13,712,242 bp from pter
End:
13,734,635 bp from pter
Size:
22,394 bases
Orientation:
Minus strand

Genomic View for TRAPPC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TRAPPC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRAPPC2 Gene

Regulatory Elements for TRAPPC2 Gene

Proteins for TRAPPC2 Gene

  • Protein details for TRAPPC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DI81-TPC2A_HUMAN
    Recommended name:
    Trafficking protein particle complex subunit 2
    Protein Accession:
    P0DI81
    Secondary Accessions:
    • A6NEG0
    • O14582
    • Q9HD16

    Protein attributes for TRAPPC2 Gene

    Size:
    140 amino acids
    Molecular mass:
    16445 Da
    Quaternary structure:
    • Can homodimerize. Component of the multisubunit TRAPP (transport protein particle) complex, which includes TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12. Interacts with ENO1, PITX1 and SF1.
    Miscellaneous:
    • A paralogous gene encoding an identical protein appears to have arisen by retrotransposition of a cDNA from this locus and to have acquired a promoter and non-coding 5 UTR from the ZNF547 gene

    Alternative splice isoforms for TRAPPC2 Gene

neXtProt entry for TRAPPC2 Gene

Proteomics data for TRAPPC2 Gene at MOPED

Post-translational modifications for TRAPPC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TRAPPC2 Gene

No data available for DME Specific Peptides for TRAPPC2 Gene

Domains for TRAPPC2 Gene

Gene Families for TRAPPC2 Gene

HGNC:
  • TRAPPC :Trafficking protein particle complex

Protein Domains for TRAPPC2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

TPC2A_HUMAN
Family:
  • Belongs to the TRAPP small subunits family. Sedlin subfamily.:
    • P0DI81
genes like me logo Genes that share domains with TRAPPC2: view

Function for TRAPPC2 Gene

Molecular function for TRAPPC2 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for TRAPPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11134351
GO:0008134 transcription factor binding IPI 11134351
GO:0044325 ion channel binding IPI 12681486
genes like me logo Genes that share ontologies with TRAPPC2: view

miRNA for TRAPPC2 Gene

miRTarBase miRNAs that target TRAPPC2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for TRAPPC2 Gene

Localization for TRAPPC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRAPPC2 Gene

Cytoplasm, perinuclear region. Endoplasmic reticulum. Golgi apparatus. Nucleus. Note=Localized in perinuclear granular structures.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRAPPC2 Gene COMPARTMENTS Subcellular localization image for TRAPPC2 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
cytosol 2
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for TRAPPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005801 cis-Golgi network --
genes like me logo Genes that share ontologies with TRAPPC2: view

Pathways for TRAPPC2 Gene

SuperPathways for TRAPPC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TRAPPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 10431248
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IDA 11134351
GO:0006810 transport --
GO:0006888 ER to Golgi vesicle-mediated transport NAS 10431248
genes like me logo Genes that share ontologies with TRAPPC2: view

No data available for Pathways by source for TRAPPC2 Gene

Compounds for TRAPPC2 Gene

(1) Drugbank Compounds for TRAPPC2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
S-PALMITOYL-L-CYSTEINE
target
genes like me logo Genes that share compounds with TRAPPC2: view

Transcripts for TRAPPC2 Gene

Unigene Clusters for TRAPPC2 Gene

Trafficking protein particle complex 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TRAPPC2 Gene

No ASD Table

Relevant External Links for TRAPPC2 Gene

GeneLoc Exon Structure for
TRAPPC2
ECgene alternative splicing isoforms for
TRAPPC2

Expression for TRAPPC2 Gene

mRNA expression in normal human tissues for TRAPPC2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TRAPPC2 Gene

SOURCE GeneReport for Unigene cluster for TRAPPC2 Gene Hs.592238

mRNA Expression by UniProt/SwissProt for TRAPPC2 Gene

P0DI81-TPC2A_HUMAN
Tissue specificity: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, fetal cartilage, fibroblasts, placenta and lymphocytes.
genes like me logo Genes that share expressions with TRAPPC2: view

Orthologs for TRAPPC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TRAPPC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRAPPC2 36
  • 100 (n)
  • 100 (a)
TRAPPC2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TRAPPC2 36
  • 91.9 (n)
  • 98.57 (a)
TRAPPC2 37
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TRAPPC2 36
  • 93.65 (n)
  • 98.64 (a)
TRAPPC2 37
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 0610009B22Rik 37
  • 95 (a)
ManyToMany
Trappc2 36
  • 90.71 (n)
  • 97.86 (a)
Trappc2 16
Trappc2 37
  • 98 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 97 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 90 (a)
ManyToMany
-- 37
  • 97 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Trappc2 36
  • 93.1 (n)
  • 97.86 (a)
chicken
(Gallus gallus)
Aves TRAPPC2 36
  • 83.33 (n)
  • 95.71 (a)
TRAPPC2 37
  • 93 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 96 (a)
ManyToMany
-- 37
  • 90 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.18543 36
tropical clawed frog
(Silurana tropicalis)
Amphibia trappc2 36
  • 79.76 (n)
  • 92.14 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.16486 36
egfl6 37
  • 92 (a)
ManyToMany
trappc2 36
  • 78.57 (n)
  • 92.14 (a)
trappc2 37
  • 96 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002528 36
  • 65.7 (n)
  • 64.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(3)72Dh 36
  • 62.08 (n)
  • 57.97 (a)
l(3)72Dh 37
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sedl-1 36
  • 56.13 (n)
  • 55.88 (a)
sedl-1 37
  • 53 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR246W 36
  • 54.23 (n)
  • 44.03 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRS20 36
  • 50.13 (n)
  • 42.86 (a)
TRS20 37
  • 32 (a)
OneToMany
TRS20 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D15763g 36
  • 52.93 (n)
  • 44.27 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G80500 36
  • 59.26 (n)
  • 51.11 (a)
rice
(Oryza sativa)
Liliopsida Os02g0613600 36
  • 59.01 (n)
  • 51.11 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU11174 36
  • 50.25 (n)
  • 46.27 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes trs20 36
  • 53.88 (n)
  • 48.12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 69 (a)
OneToMany
Species with no ortholog for TRAPPC2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRAPPC2 Gene

ENSEMBL:
Gene Tree for TRAPPC2 (if available)
TreeFam:
Gene Tree for TRAPPC2 (if available)

Paralogs for TRAPPC2 Gene

Paralogs for TRAPPC2 Gene

Selected SIMAP similar genes for TRAPPC2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TRAPPC2: view

Variants for TRAPPC2 Gene

Sequence variations from dbSNP and Humsavar for TRAPPC2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1058897 -- 13,712,795(-) ATACA(C/T)AGCAC utr-variant-3-prime
rs1058896 -- 13,712,807(-) TGTAT(A/T)GGCAG utr-variant-3-prime
rs1058895 -- 13,712,839(-) TTGAC(A/G)TTATG utr-variant-3-prime
rs1058894 -- 13,712,857(-) AATGT(C/G)ATAGC utr-variant-3-prime
rs1058893 -- 13,712,868(-) GTTGG(A/G)AGTGA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TRAPPC2 Gene

Variant ID Type Subtype PubMed ID
nsv528634 CNV Gain 19592680

Relevant External Links for TRAPPC2 Gene

HapMap Linkage Disequilibrium report
TRAPPC2
Human Gene Mutation Database (HGMD)
TRAPPC2

Disorders for TRAPPC2 Gene

(1) OMIM Diseases for TRAPPC2 Gene (300202)

UniProtKB/Swiss-Prot

TPC2A_HUMAN
  • Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]: X-linked recessive disorder of endochondral bone formation. {ECO:0000269 PubMed:10431248, ECO:0000269 PubMed:11349230, ECO:0000269 PubMed:11424925}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) Novoseek inferred disease relationships for TRAPPC2 Gene

Disease -log(P) Hits PubMed IDs
spondyloepiphyseal dysplasia tarda, x-linked 99.1 10
osteochondrodysplasias 81.7 2
skeletal disorder 76.5 1
spondyloepiphyseal dysplasia 76.3 2

Relevant External Links for TRAPPC2

GeneTests
TRAPPC2
GeneReviews
TRAPPC2
genes like me logo Genes that share disorders with TRAPPC2: view

Publications for TRAPPC2 Gene

  1. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. (PMID: 10431248) Gedeon A.K. … Gecz J. (Nat. Genet. 1999) 3 4 23
  2. A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. (PMID: 11424925) Grunebaum E. … Roifman C.M. (J. Med. Genet. 2001) 3 4 23
  3. Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. (PMID: 14597397) Gecz J. … de Barros Lopes M. (Gene 2003) 2 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. [A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree]. (PMID: 18393234) Lin Y. … Yang Y. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008) 3 23

Products for TRAPPC2 Gene

Sources for TRAPPC2 Gene

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