TRAPPC2 (trafficking protein particle complex subunit 2)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6399 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Trafficking protein particle complex subunit 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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TRAPPC2 |
SynonymsGene synonyms aliases
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MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334 |
ChromosomeChromosome number
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X |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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Xp22.2 |
SummarySummary 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- |
SNPsSNP information provided by dbSNP.
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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 |
rs587776750 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs587776751 |
GTCTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs587776752 |
C>T |
Pathogenic |
Intron variant |
rs587776753 |
A>G |
Pathogenic |
Intron variant |
rs587776754 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs587777330 |
TTA>- |
Pathogenic |
Intron variant |
rs1602708047 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1602717625 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1602717698 |
T>A |
Pathogenic |
Coding sequence variant, initiator codon variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
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 |
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Sequence |
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Sequence length |
140 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Melnick-needles syndrome |
Melnick-Needles Syndrome |
rs28935472, rs28935473 |
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Multiple epiphyseal dysplasia |
Multiple Epiphyseal Dysplasia |
rs786200881, rs104893915, rs104893919, rs104893916, rs386833492, rs104893924, rs104893645, rs104893637, rs28939677, rs104893641, rs137852654, rs193922900, rs137852655, rs869320730, rs28936368, rs752248403, rs312262900, rs386833495, rs386833497, rs386833499, rs200963884, rs149551600, rs397515546, rs786204675, rs886039282, rs1057517523, rs1057517496, rs1057517462, rs1057517504, rs763198695, rs1057517483, rs1057517461, rs1057517524, rs1057517514, rs1057517526, rs1057517495, rs1057517532, rs1057517471, rs1057517502, rs1057517511, rs1057517482, rs1057517530, rs1057517474, rs762137330, rs1057517513, rs1014317450, rs1554095084, rs769859976, rs1554095145, rs1554095356, rs1554095374, rs1554095137, rs1554095156, rs745774620, rs1554095364, rs1481910744, rs1554095097, rs1554095125, rs1554095154, rs769657401, rs1554095381, rs1554095167, rs1554095266, rs1225601391, rs1554095296, rs1554095395, rs1235928535, rs1568554988, rs1561822760, rs1601054002, rs1601057167, rs1601054715, rs2055184939 |
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Osteochondrodysplasia |
Osteochondrodysplasias |
rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061 |
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Schwartz-jampel syndrome |
Schwartz-Jampel Syndrome |
rs886039909, rs927473035, rs1572304438, rs1572356343 |
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Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
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Spondyloepiphyseal dysplasia congenita |
Spondyloepiphyseal dysplasia, congenita |
rs1555164872, rs121912870, rs121912874, rs121912883, rs864621973, rs886042651, rs886042849, rs1085307657, rs1555168505, rs1025202963, rs1555167783, rs1565679062, rs1939205327 |
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Spondyloenchondrodysplasia |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
rs121908616, rs267606734, rs121908617, rs121908618, rs1589509884, rs121908619, rs121908620, rs145538723, rs267606733, rs267606732, rs587776752, rs121912870, rs121912871, rs121912875, rs121912880, rs121912881, rs786200938, rs397514718, rs786200939, rs397514719, rs397514720, rs397514723, rs397514724, rs786200943, rs747171013, rs886039542, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703, rs769540174, rs1554022725, rs1555168505, rs1316347883, rs771866012, rs1553151294, rs1416783446, rs1565460853, rs771258750, rs1226321681, rs1294100541, rs1564532120, rs113683179, rs1597675888, rs1597675890, rs1202786652, rs377527583, rs1603225182, rs2085516391, rs934768094, rs2058757423, rs1589509307, rs771336246 |
11424925, 11349230, 10431248 |
Spondyloepiphyseal dysplasia |
Spondyloepiphyseal Dysplasia |
rs72555367, rs121908950, rs121908951, rs121908952, rs104893637, rs104893639, rs387906534, rs121913568, rs606231241, rs606231242, rs786200933, rs606231243, rs786200934, rs397515546, rs797045099, rs869312907, rs886041895, rs760093841, rs374379931, rs1471554906, rs1567185220, rs1567186585, rs1592198747, rs1239366051, rs1592197682 |
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Spondyloepiphyseal dysplasia tarda |
Spondyloepiphyseal dysplasia tarda |
rs587776748, rs587776749, rs587776750, rs587776751, rs587776752, rs104894948, rs122460156, rs104894949, rs587776753, rs587776754, rs587777330, rs1602717698, rs1602717625, rs2046290303, rs1602708047 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Chondrodystrophic myotonia |
Schwartz-Jampel Syndrome, Type 1 |
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Dyschondroplasias |
Dyschondroplasias |
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Osteoarthritis of hip |
Osteoarthritis of hip |
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Van buchem disease |
Van Buchem disease |
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