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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-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spo... See more...
Aliases for TRAPPC2 Gene
Aliases for TRAPPC2 Gene
External Ids for TRAPPC2 Gene
- HGNC: 23068
- Entrez Gene: 6399
- Ensembl: ENSG00000196459
- OMIM: 300202
- UniProtKB: P0DI81
Previous HGNC Symbols for TRAPPC2 Gene
- SEDL
Previous GeneCards Identifiers for TRAPPC2 Gene
- GC00U913615
- GC0XM013492
- GC0XM013640
Summaries 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, X-Linked and Spondyloepiphyseal Dysplasia Congenita. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Transport to the Golgi and subsequent modification. Gene Ontology (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 Summary 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.
Additional gene information for TRAPPC2 Gene
- HGNC(23068)
- Entrez Gene(6399)
- Ensembl(ENSG00000196459)
- OMIM(300202)
- UniProtKB(P0DI81)
- Open Targets Platform(ENSG00000196459)
- Search for TRAPPC2 at DataMed
- Search for TRAPPC2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRAPPC2 Gene
Genomics for TRAPPC2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TRAPPC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TRAPPC2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRAPPC2
- Top Transcription factor binding sites by QIAGEN in the TRAPPC2 gene promoter:
-
- aMEF-2
- En-1
- Evi-1
- FOXL1
- GR
- GR-alpha
- Lmo2
- MEF-2A
- TBP
- TFIID
Genomic Locations for TRAPPC2 Gene
Genomic Locations for TRAPPC2 Gene
- chrX:13,712,242-13,734,635
- (GRCh38/hg38)
- Size:
- 22,394 bases
- Orientation:
- Minus strand
- chrX:13,730,361-13,752,754
- (GRCh37/hg19)
- Size:
- 22,394 bases
- Orientation:
- Minus strand
Genomic View for TRAPPC2 Gene
Genes around TRAPPC2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.2 by HGNC
- Xp22.2 by Entrez Gene
- Xp22.2 by Ensembl
TRAPPC2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence 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
- 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
- UniProtKB/Swiss-Prot:
Protein Expression for TRAPPC2 Gene
Post-translational modifications for TRAPPC2 Gene
Other Protein References for TRAPPC2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ TRAPPC2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for TRAPPC2
- Novus Biologicals Antibodies for TRAPPC2
-
Abcam antibodies for TRAPPC2
- Invitrogen Antibodies for TRAPPC2 (AFLGC-TRAPPC2)
-
Boster Bio Antibodies for TRAPPC2
-
Santa Cruz Biotechnology (SCBT) Antibodies for TRAPPC2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for TRAPPC2
- Origene Custom Protein Services for TRAPPC2
- ProSpec Recombinant Proteins for TRAPPC2
-
Abcam proteins for TRAPPC2
No data available for DME Specific Peptides for TRAPPC2 Gene
Domains & Families for TRAPPC2 Gene
Gene Families for TRAPPC2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for TRAPPC2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TRAPPC2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA, FLJ94336, Homo sapiens spondyloepiphyseal dysplasia, late (SEDL), mRNA (Q6IBE5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P0DI81- Family:
-
- Belongs to the TRAPP small subunits family. Sedlin subfamily.
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.
| 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 |
Phenotypes for TRAPPC2 Gene
- MGI mutant phenotypes for TRAPPC2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TRAPPC2:
Animal Models for TRAPPC2 Gene
- MGI Knock Outs for TRAPPC2:
-
- Trappc2 Trappc2<tm1.1(KOMP)Vlcg>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TRAPPC2 - Select products 50% OFF >
- * TRAPPC2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TRAPPC2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TRAPPC2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRAPPC2
miRNA for TRAPPC2 Gene
- miRTarBase miRNAs that target TRAPPC2
-
- hsa-miR-21-5p (MIRT030856)
- hsa-miR-92a-3p (MIRT049775)
- hsa-miR-25-3p (MIRT050252)
- hsa-miR-6834-5p (MIRT550070)
- hsa-miR-340-5p (MIRT550071)
- hsa-miR-4693-5p (MIRT550072)
- hsa-miR-542-3p (MIRT550073)
- hsa-miR-6739-5p (MIRT550074)
- hsa-miR-6733-5p (MIRT550075)
- hsa-miR-3153 (MIRT550076)
- hsa-miR-6133 (MIRT550077)
- hsa-miR-6130 (MIRT550078)
- hsa-miR-6129 (MIRT550079)
- hsa-miR-6127 (MIRT550080)
- hsa-miR-4510 (MIRT550081)
- hsa-miR-4419a (MIRT550082)
- hsa-miR-6875-5p (MIRT550083)
- hsa-miR-3126-5p (MIRT550084)
- hsa-miR-3120-5p (MIRT550085)
- hsa-miR-7162-3p (MIRT550086)
- hsa-miR-5590-3p (MIRT550087)
- hsa-miR-142-5p (MIRT550088)
- hsa-miR-5584-5p (MIRT550089)
- hsa-miR-651-3p (MIRT550090)
- hsa-miR-6507-5p (MIRT550091)
- hsa-miR-4796-3p (MIRT550092)
- hsa-miR-93-5p (MIRT550093)
- hsa-miR-526b-3p (MIRT550094)
- hsa-miR-519d-3p (MIRT550095)
- hsa-miR-20b-5p (MIRT550096)
- hsa-miR-20a-5p (MIRT550097)
- hsa-miR-17-5p (MIRT550098)
- hsa-miR-106b-5p (MIRT550099)
- hsa-miR-106a-5p (MIRT550100)
- hsa-miR-548ah-5p (MIRT550101)
- hsa-miR-3609 (MIRT550102)
- hsa-miR-7703 (MIRT617716)
- hsa-miR-6720-5p (MIRT617717)
- hsa-miR-6512-3p (MIRT617718)
- hsa-miR-196a-3p (MIRT617719)
- hsa-miR-4252 (MIRT617720)
- hsa-miR-3128 (MIRT617721)
- hsa-miR-4793-3p (MIRT617722)
- hsa-miR-766-3p (MIRT617723)
- hsa-miR-8073 (MIRT617724)
- hsa-miR-221-5p (MIRT617725)
- hsa-miR-6849-3p (MIRT617726)
- hsa-miR-1273g-3p (MIRT617727)
- hsa-miR-508-5p (MIRT617728)
- hsa-miR-1227-3p (MIRT636931)
- hsa-miR-6889-3p (MIRT636932)
- hsa-miR-5003-5p (MIRT636933)
- hsa-miR-596 (MIRT636934)
- hsa-miR-665 (MIRT639181)
- hsa-miR-6515-5p (MIRT639182)
- hsa-miR-4443 (MIRT639183)
- hsa-miR-650 (MIRT639184)
- hsa-miR-3612 (MIRT639185)
- hsa-miR-7160-5p (MIRT639186)
- hsa-miR-4722-5p (MIRT639187)
- hsa-miR-6884-5p (MIRT639188)
- hsa-miR-485-5p (MIRT639189)
- hsa-miR-1827 (MIRT639190)
- hsa-miR-432-5p (MIRT639191)
- hsa-miR-6078 (MIRT639192)
- hsa-miR-4649-3p (MIRT639193)
- hsa-miR-4768-3p (MIRT639194)
- hsa-miR-4478 (MIRT639195)
- hsa-miR-4419b (MIRT639196)
- hsa-miR-3929 (MIRT639197)
- hsa-miR-940 (MIRT639198)
- hsa-miR-6893-5p (MIRT639199)
- hsa-miR-6808-5p (MIRT639200)
- hsa-miR-890 (MIRT639201)
- hsa-miR-1200 (MIRT643280)
- hsa-miR-378a-5p (MIRT643281)
- hsa-miR-7977 (MIRT643282)
- hsa-miR-6769b-5p (MIRT643283)
- hsa-miR-6769a-5p (MIRT643284)
- hsa-miR-6134 (MIRT643285)
- hsa-miR-7854-3p (MIRT643286)
- hsa-miR-544b (MIRT643287)
- hsa-miR-4324 (MIRT643288)
- hsa-miR-383-3p (MIRT643289)
- hsa-miR-6864-3p (MIRT690533)
- hsa-miR-3672 (MIRT690534)
- hsa-miR-873-3p (MIRT690535)
- hsa-miR-759 (MIRT690536)
- hsa-miR-5586-3p (MIRT690537)
- hsa-miR-4797-5p (MIRT690538)
- hsa-miR-455-3p (MIRT746229)
- hsa-miR-6499-3p (MIRT752846)
- hsa-miR-6516-5p (MIRT753384)
- hsa-miR-6807-5p (MIRT756541)
- hsa-miR-6840-3p (MIRT780194)
- hsa-miR-1273h-5p (MIRT783356)
- hsa-miR-149-3p (MIRT783875)
- hsa-miR-25-5p (MIRT784322)
- hsa-miR-30b-3p (MIRT784511)
- hsa-miR-3192-5p (MIRT784777)
- hsa-miR-3689a-3p (MIRT785247)
- hsa-miR-3689b-3p (MIRT785260)
- hsa-miR-3689c (MIRT785273)
- hsa-miR-377-5p (MIRT785377)
- hsa-miR-4459 (MIRT785935)
- hsa-miR-4728-5p (MIRT786544)
- hsa-miR-6086 (MIRT788008)
- hsa-miR-6087 (MIRT788016)
- hsa-miR-658 (MIRT788395)
- hsa-miR-6779-5p (MIRT788691)
- hsa-miR-6780a-5p (MIRT788703)
- hsa-miR-6785-5p (MIRT788723)
- hsa-miR-6799-5p (MIRT788811)
- hsa-miR-6883-5p (MIRT789294)
- hsa-miR-7106-5p (MIRT789392)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TRAPPC2
- Browse OriGene Inhibitory RNA Products For TRAPPC2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRAPPC2
Clone Products
- Applied Biological Materials (abm): Clones for TRAPPC2 - Select products 50% OFF >
- * TRAPPC2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG200877
- MR200877
- MR200877L3
- MR200877L4
- RC208617
- RC208617L3
- RC208617L4
- RC224275
- RC224275L3
- RC224275L4
- RC225006
- RC225006L3
- RC225006L4
- RG208617
- RG224275
- RG225006
- RR205192
- RR205192L3
- RR205192L4
- MR200877L3V
- MR200877L4V
- RC208617L3V
- RC208617L4V
- RC224275L3V
- RC224275L4V
- RC225006L3V
- RC225006L4V
- RR205192L3V
- RR205192L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TRAPPC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TRAPPC2
Cell Line Products
-
Horizon Cell Lines for TRAPPC2
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets 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 intermediate compartment. Nucleus. Cytoplasm. Note=Localized in perinuclear granular structures. {ECO:0000269 PubMed:11031107}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| endoplasmic reticulum | 4 |
| golgi apparatus | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
- Endoplasmic reticulum (3)
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005634 | nucleus | IEA,IDA | 25918224 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
| GO:0005783 | endoplasmic reticulum | IDA | -- |
Pathways & Interactions for TRAPPC2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport to the Golgi and subsequent modification | ||
| 2 | Vesicle-mediated transport | ||
| 3 | Metabolism of proteins | ||
| 4 | RAB GEFs exchange GTP for GDP on RABs | ||
Pathways by source for TRAPPC2 Gene
9 Reactome pathways for TRAPPC2 Gene
Interacting Proteins for TRAPPC2 Gene
Selected Interacting proteins:
P0DI81-TPC2A_HUMAN
ENSP00000392495
for TRAPPC2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TRAPPC2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001501 | skeletal system development | IMP | 10431248 |
| GO:0006355 | regulation of transcription, DNA-templated | IDA | 11134351 |
| GO:0006888 | ER to Golgi vesicle-mediated transport | NAS | 10431248 |
| GO:0016192 | vesicle-mediated transport | IEA | -- |
| GO:0048208 | COPII vesicle coating | TAS | -- |
No data available for SIGNOR curated interactions for TRAPPC2 Gene
Transcripts for TRAPPC2 Gene
mRNA/cDNA for TRAPPC2 Gene
- 3 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000359680 2716 nts (view in UCSC)
- ENST00000380578 3108 nts (view in UCSC)
- ENST00000380579 2842 nts (view in UCSC)
- ENST00000458511 678 nts (view in UCSC)
- ENST00000517553 475 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TRAPPC2 - Select products 50% OFF >
- * TRAPPC2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TRAPPC2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TRAPPC2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRAPPC2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TRAPPC2
- Browse OriGene Inhibitory RNA Products For TRAPPC2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRAPPC2
Clone Products
- Applied Biological Materials (abm): Clones for TRAPPC2 - Select products 50% OFF >
- * TRAPPC2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG200877
- MR200877
- MR200877L3
- MR200877L4
- RC208617
- RC208617L3
- RC208617L4
- RC224275
- RC224275L3
- RC224275L4
- RC225006
- RC225006L3
- RC225006L4
- RG208617
- RG224275
- RG225006
- RR205192
- RR205192L3
- RR205192L4
- MR200877L3V
- MR200877L4V
- RC208617L3V
- RC208617L4V
- RC224275L3V
- RC224275L4V
- RC225006L3V
- RC225006L4V
- RR205192L3V
- RR205192L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TRAPPC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TRAPPC2
Relevant External Links for TRAPPC2 Gene
- GeneLoc Exon Structure for
- TRAPPC2
Expression for TRAPPC2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TRAPPC2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRAPPC2
SOURCE GeneReport for Unigene cluster for TRAPPC2 Gene:
Hs.592238mRNA 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.
Evidence on tissue expression from TISSUES for TRAPPC2 Gene
- Nervous system(3.9)
- Kidney(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TRAPPC2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- immune
- nervous
- respiratory
- skeleton
Regions:
Head and neck:
- eye
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- lung
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for TRAPPC2
-
OriGene qPCR primer pairs and template standards for TRAPPC2
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners for TRAPPC2 Gene
Orthologs for TRAPPC2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TRAPPC2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Mouse (Mus musculus) |
Mammalia | 0610009B22Rik 31 |
|
ManyToMany | |
| Trappc2 30 17 31 |
|
ManyToMany | |||
| Dog (Canis familiaris) |
Mammalia | TRAPPC2 30 31 |
|
OneToMany | |
| Rat (Rattus norvegicus) |
Mammalia | Trappc2 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | TRAPPC2 30 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | TRAPPC2 30 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trappc2 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.18543 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | egfl6 31 |
|
ManyToMany | |
| trappc2 30 31 |
|
ManyToMany | |||
| Dr.16486 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002528 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | l(3)72Dh 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | sedl-1 30 31 |
|
OneToMany | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGR246W 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D15763g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TRS20 30 31 33 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G80500 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0613600 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | trs20 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU11174 30 |
|
- Species where no ortholog for TRAPPC2 was found in the sources mined by GeneCards:
-
- 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for TRAPPC2: view image
Paralogs for TRAPPC2 Gene
(1) SIMAP similar genes for TRAPPC2 Gene using alignment to 5 proteins:
- TPC2A_HUMAN
- E5RFG0_HUMAN
- F5H785_HUMAN
- G1K394_HUMAN
- Q6IBE5_HUMAN
Pseudogenes.org Pseudogenes for TRAPPC2 Gene
Variants for TRAPPC2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRAPPC2 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 623471 | Pathogenic: Spondyloepiphyseal dysplasia tarda | 13,719,963(-) | T/A | INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT | |
| 623472 | Pathogenic: Spondyloepiphyseal dysplasia tarda | 13,719,923(-) | TC/T | FRAMESHIFT_VARIANT | |
| 694600 | Pathogenic: Spondyloepiphyseal dysplasia tarda | 13,716,554(-) | GAC/G | FRAMESHIFT_VARIANT | |
| 723476 | Benign: not provided | 13,716,658(-) | G/A | SYNONYMOUS_VARIANT | |
| 746280 | Likely Benign: not provided | 13,714,503(-) | A/G | SYNONYMOUS_VARIANT |
Gene Damage Index Score:
0.07;
1.53% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TRAPPC2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRAPPC2 Gene
Disorders for TRAPPC2 Gene
(17) MalaCards diseases for TRAPPC2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spondyloepiphyseal dysplasia tarda, x-linked |
|
|
| spondyloepiphyseal dysplasia congenita |
|
|
| spondyloepiphyseal dysplasia with congenital joint dislocations |
|
|
| spondyloepimetaphyseal dysplasia, matrilin-3 related |
|
|
| multiple epiphyseal dysplasia |
|
Search TRAPPC2 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for TRAPPC2
No data available for Genatlas for TRAPPC2 Gene
Publications for TRAPPC2 Gene
- Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. (PMID: 14597397) Gécz J … de Barros Lopes M (Gene 2003) 2 3 4
- 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 CM (Journal of medical genetics 2001) 3 4 23
- Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. (PMID: 10431248) Gedeon AK … Gécz J (Nature genetics 1999) 3 4 23
- TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability, and CENP-E recruitment. (PMID: 25918224) Milev MP … Sacher M (The Journal of cell biology 2015) 3 4
- C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking. (PMID: 21525244) Scrivens PJ … Sacher M (Molecular biology of the cell 2011) 3 4
ExternalLinks
Products for TRAPPC2 Gene
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- antibodies-online: Show 16 available TRAPPC2 Antibodies ranked by validation data
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TRAPPC2
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- Boster Bio Antibodies for TRAPPC2
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Sources for TRAPPC2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB