TRAPPC9 (trafficking protein particle complex subunit 9)

2007-04-01  

Identity

HGNC
TRAPPC9
LOCATION
8q24.3
LOCUSID
83696
ALIAS
IBP,IKBKBBP,MRT13,NIBP,T1,TRS120
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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/js/lib/favicon/manifest.json