TRAPPC9 (trafficking protein particle complex subunit 9)

2007-04-01  

Identity

HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
IBP,IKBKBBP,MRT13,NIBP,T1,TRS120
FUSION GENES

Other Information

Locus ID:

NCBI: 83696
MIM: 611966
HGNC: 30832
Ensembl: ENSG00000167632

Variants:

dbSNP: 83696
ClinVar: 83696
TCGA: ENSG00000167632
COSMIC: TRAPPC9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167632ENST00000389328Q96Q05
ENSG00000167632ENST00000438773Q96Q05
ENSG00000167632ENST00000520857H0YBR0
ENSG00000167632ENST00000634178A0A0J9YWK7
ENSG00000167632ENST00000648948Q96Q05

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

References

Pubmed IDYearTitleCitations
384677382024Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.0
384677382024Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.0
357600562022Neurodevelopmental Outcome and Epigenetic Changes at 2 Years Associated with the Oxygen Load Received upon Postnatal Stabilization: A Pilot Study.1
357600562022Neurodevelopmental Outcome and Epigenetic Changes at 2 Years Associated with the Oxygen Load Received upon Postnatal Stabilization: A Pilot Study.1
335132952021Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.3
339213382021Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.9
347371532021Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.2
335132952021Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.3
339213382021Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.9
347371532021Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.2
320465342020Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in Drosophila.13
328774002020Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.10
320465342020Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in Drosophila.13
328774002020Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.10
291877372018The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.14

Citation

Dessen P

TRAPPC9 (trafficking protein particle complex subunit 9)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47452/css/lib/case-report-explorer/humanGenome