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TRAPPC2
Identifiers
Aliases	TRAPPC2, MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334, trafficking protein particle complex 2, trafficking protein particle complex subunit 2
External IDs	OMIM: 300202; MGI: 1913476; HomoloGene: 5436; GeneCards: TRAPPC2; OMA:TRAPPC2 - orthologs
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X F5 Start 165,223,570 bp End 165,236,136 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar vermis cerebellar hemisphere thymus right hemisphere of cerebellum epithelium of nasopharynx ganglionic eminence blood lymph node superficial temporal artery urethra Top expressed in dentate gyrus of hippocampal formation granule cell quadriceps femoris muscle hippocampus proper neural tube zygote Cortex of frontal lobe Mesencephalon primary visual cortex superior frontal gyrus secondary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transmembrane transporter binding transcription factor binding protein binding Cellular component cytoplasm cytosol intracellular anatomical structure perinuclear region of cytoplasm Golgi membrane nucleus nucleoplasm endoplasmic reticulum endoplasmic reticulum-Golgi intermediate compartment intracellular membrane-bounded organelle TRAPP complex Biological process skeletal system development regulation of transcription, DNA-templated transcription, DNA-templated COPII vesicle coating vesicle-mediated transport endoplasmic reticulum to Golgi vesicle-mediated transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6399 66226 Ensembl ENSG00000196459 ENSMUSG00000079317 UniProt P0DI81 P0DI82 Q9CQP2 RefSeq (mRNA) NM_001011658 NM_001128835 NM_014563 NM_025432 NM_001313722 RefSeq (protein) NP_001011658 NP_001122307 NP_055378 NP_001011658.1 NP_055378.1 NP_001300651 NP_079708 NP_079595 Location (UCSC) n/a Chr X: 165.22 – 165.24 Mb PubMed search
Wikidata
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Trafficking protein particle complex subunit 2 (TRAPPC2) also known as MBP-1-interacting protein 2A (MIP-2A) is a protein that in humans is encoded by the TRAPPC2 gene. A processed pseudogene of this gene is located on chromosome 19, and other pseuodogenes of it are found on chromosome 8 and the Y chromosome. Two transcript variants encoding the same protein have been found for this gene.

Function

Trafficking protein particle complex subunit 2 is thought to be part of a large multisubunit 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 MBP1 and block its transcriptional repression capability.

Genetic Location

The TRAPPC2 gene is located on the X-chromosome at position 22 between base-pairs 13,712,241 to 13,734,634.

Clinical significance

Mutations in this gene are a cause of X-linked spondyloepiphyseal dysplasia tarda (SEDT).

Interactions

TRAPPC2 has been shown to interact with Alpha-enolase and CLIC1.

References

1. ^ GRCm38: Ensembl release 89: ENSMUSG00000079317 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. Gécz J, Shaw MA, Bellon JR, de Barros Lopes M (November 2003). "Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not". Gene. 320: 137–44. doi:10.1016/S0378-1119(03)00819-9. PMID 14597397.
5. ^ "Entrez Gene: TRAPPC2 trafficking protein particle complex 2".
6. "TRAPPC2 gene at Genetics Home Reference".
7. Ghosh AK, Majumder M, Steele R, White RA, Ray RB (January 2001). "A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1". Molecular and Cellular Biology. 21 (2): 655–62. doi:10.1128/MCB.21.2.655-662.2001. PMC 86643. PMID 11134351.
8. Fan L, Yu W, Zhu X (April 2003). "Interaction of Sedlin with chloride intracellular channel proteins". FEBS Letters. 540 (1–3): 77–80. Bibcode:2003FEBSL.540...77F. doi:10.1016/S0014-5793(03)00228-X. PMID 12681486. S2CID 8573651.

Further reading

• Shaw MA, Brunetti-Pierri N, Kádasi L, Kovácová V, Van Maldergem L, De Brasi D, et al. (September 2003). "Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4". Clinical Genetics. 64 (3): 235–42. doi:10.1034/j.1399-0004.2003.00132.x. PMID 12919139. S2CID 27897114.
• Adams MD, Soares MB, Kerlavage AR, Fields C, Venter JC (August 1993). "Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library". Nature Genetics. 4 (4): 373–80. doi:10.1038/ng0893-373. PMID 8401585. S2CID 12612300.
• Bernard LE, Chitayat D, Weksberg R, Van Allen MI, Langlois S (May 1996). "Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia". Journal of Medical Genetics. 33 (5): 432–4. doi:10.1136/jmg.33.5.432. PMC 1050619. PMID 8733060.
• Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, et al. (August 1999). "Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda". Nature Genetics. 22 (4): 400–4. doi:10.1038/11976. PMID 10431248. S2CID 5784112.
• Gécz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC (October 2000). "Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda". Genomics. 69 (2): 242–51. doi:10.1006/geno.2000.6326. PMID 11031107.
• Ghosh AK, Majumder M, Steele R, White RA, Ray RB (January 2001). "A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1". Molecular and Cellular Biology. 21 (2): 655–62. doi:10.1128/MCB.21.2.655-662.2001. PMC 86643. PMID 11134351.
• Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, et al. (June 2001). "The molecular basis of X-linked spondyloepiphyseal dysplasia tarda". American Journal of Human Genetics. 68 (6): 1386–97. doi:10.1086/320592. PMC 1226125. PMID 11349230.
• Grunebaum E, Arpaia E, MacKenzie JJ, Fitzpatrick J, Ray PN, Roifman CM (June 2001). "A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree". Journal of Medical Genetics. 38 (6): 409–11. doi:10.1136/jmg.38.6.409. PMC 1734897. PMID 11424925.
• Mumm S, Zhang X, Vacca M, D'Esposito M, Whyte MP (August 2001). "The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site". Gene. 273 (2): 285–93. doi:10.1016/S0378-1119(01)00571-6. PMID 11595175.
• Takahashi T, Takahashi I, Tsuchida S, Oyama K, Komatsu M, Saito H, Takada G (April 2002). "An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda". Clinical Genetics. 61 (4): 319–20. doi:10.1034/j.1399-0004.2002.610416.x. PMID 12030902. S2CID 31600967.
• Fiedler J, Bittner M, Puhl W, Brenner RE (July 2002). "Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men". Clinical Genetics. 62 (1): 94–5. doi:10.1034/j.1399-0004.2002.620114.x. PMID 12123495. S2CID 35441074.
• Gao C, Luo Q, Wang HL, Gao XQ, Fan QT, Wang H, et al. (February 2003). "". Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics. 20 (1): 15–8. PMID 12579492.
• Xiao C, Zhang S, Wang J, Qiu W, Chi L, Li Y, Su Z (April 2003). "A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family". Mutation Research. 525 (1–2): 61–5. Bibcode:2003MRFMM.525...61X. doi:10.1016/s0027-5107(02)00315-9. PMID 12650905.
• Fan L, Yu W, Zhu X (April 2003). "Interaction of Sedlin with chloride intracellular channel proteins". FEBS Letters. 540 (1–3): 77–80. Bibcode:2003FEBSL.540...77F. doi:10.1016/S0014-5793(03)00228-X. PMID 12681486. S2CID 8573651.
• Savarirayan R, Thompson E, Gécz J (September 2003). "Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)". European Journal of Human Genetics. 11 (9): 639–42. doi:10.1038/sj.ejhg.5201025. PMID 12939648.

External links

• GeneReviews/NIH/NCBI/UW entry on X-Linked Spondyloepiphyseal Dysplasia Tarda
• OMIM entries on X-Linked Spondyloepiphyseal Dysplasia Tarda

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