This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] See more...

Aliases for TRAPPC9 Gene

Aliases for TRAPPC9 Gene

  • Trafficking Protein Particle Complex 9 2 3 5
  • Trafficking Protein Particle Complex Subunit 9 3 4
  • NIK- And IKBKB-Binding Protein 3 4
  • Tularik Gene 1 Protein 3 4
  • TRAPP 120 KDa Subunit 2 3
  • NIBP 3 4
  • NIK And IKK-Beta Binding Protein 3
  • IKK2 Binding Protein 3
  • Tularik Gene 1 2
  • KIAA1882 4
  • IKBKBBP 3
  • TRS120 3
  • MRT13 3
  • IBP 3
  • T1 3

External Ids for TRAPPC9 Gene

Previous GeneCards Identifiers for TRAPPC9 Gene

  • GC00U913619
  • GC08M140813
  • GC08M136053
  • GC08M140742

Summaries for TRAPPC9 Gene

Entrez Gene Summary for TRAPPC9 Gene

  • This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

GeneCards Summary for TRAPPC9 Gene

TRAPPC9 (Trafficking Protein Particle Complex 9) is a Protein Coding gene. Diseases associated with TRAPPC9 include Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Metabolism of proteins and RAB GEFs exchange GTP for GDP on RABs.

UniProtKB/Swiss-Prot Summary for TRAPPC9 Gene

  • Functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. May function in neuronal cells differentiation. May play a role in vesicular transport from endoplasmic reticulum to Golgi.

Additional gene information for TRAPPC9 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRAPPC9 Gene

Genomics for TRAPPC9 Gene

GeneHancer (GH) Regulatory Elements for TRAPPC9 Gene

Promoters and enhancers for TRAPPC9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J140456 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 511.3 -0.2 -171 4.9 HNRNPK ZBTB40 ZNF217 EP300 TCF12 SIN3A MYC NRF1 USF1 POLR2G TRAPPC9 CHRAC1 AGO2 ENSG00000259891 lnc-CHRAC1-1 RF00017-7343
GH08J140462 Promoter/Enhancer 2.1 EPDnew ENCODE CraniofacialAtlas dbSUPER 500.4 -6.1 -6117 3.5 EP300 FOXK2 ZBTB40 ZNF217 CTCF TCF12 SIN3A MYC NRF1 POLR2G LOC105375782 lnc-CHRAC1-1 piR-37421 TRAPPC9 CHRAC1 RF00017-7346 RF00017-7343
GH08J140444 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +11.7 11709 4.7 ZIC2 KLF4 REST FOS MAX SPI1 NFE2 E2F6 STAT3 PKNOX1 TRAPPC9 CHRAC1 ENSG00000253307 lnc-AGO2-6 RF00017-7343
GH08J140491 Enhancer 0.8 Ensembl 12.1 -33.7 -33722 1.8 ZNF316 NFIC FOS NR3C1 TBP NFE2 FOSL1 ZFHX2 ZNF189 MAFK TRAPPC9 piR-47628-191 RF00017-7348 RF00017-7343
GH08J140469 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 7.8 -11.1 -11108 1.3 ZNF341 KLF9 ZBTB17 SAP130 FOXP2 RAD21 HLF MNT ZNF579 IKZF1 RF00017-7347 CHRAC1 AGO2 TRAPPC9 LOC105375782 RF00017-7346 RF00017-7343
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRAPPC9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRAPPC9

Top Transcription factor binding sites by QIAGEN in the TRAPPC9 gene promoter:
  • AREB6
  • Bach2
  • c-Myc
  • CUTL1
  • En-1
  • Max
  • Max1
  • Olf-1
  • SEF-1 (1)

Genomic Locations for TRAPPC9 Gene

Genomic Locations for TRAPPC9 Gene
chr8:139,727,725-140,458,579
(GRCh38/hg38)
Size:
730,855 bases
Orientation:
Minus strand
chr8:140,742,586-141,468,678
(GRCh37/hg19)
Size:
726,093 bases
Orientation:
Minus strand

Genomic View for TRAPPC9 Gene

Genes around TRAPPC9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRAPPC9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRAPPC9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRAPPC9 Gene

Proteins for TRAPPC9 Gene

  • Protein details for TRAPPC9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96Q05-TPPC9_HUMAN
    Recommended name:
    Trafficking protein particle complex subunit 9
    Protein Accession:
    Q96Q05
    Secondary Accessions:
    • Q4VTT3
    • Q658K7
    • Q6P149
    • Q6ZQT3
    • Q7L5C4
    • Q86Y21
    • Q96SL2
    • Q9BQA2

    Protein attributes for TRAPPC9 Gene

    Size:
    1148 amino acids
    Molecular mass:
    128530 Da
    Quaternary structure:
    • Component of the multisubunit TRAPP (transport protein particle) complex, which includes at least TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12. Directly interacts with IKBKB and MAP3K14.
    SequenceCaution:
    • Sequence=AAH06206.3; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55299.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB67775.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TRAPPC9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRAPPC9 Gene

Post-translational modifications for TRAPPC9 Gene

  • Ubiquitination at Lys568, Lys754, and Lys944
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TRAPPC9 Gene

Domains & Families for TRAPPC9 Gene

Gene Families for TRAPPC9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TRAPPC9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TRAPPC9 Gene

GenScript: Design optimal peptide antigens:
  • Tularik gene 1 protein (TPPC9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96Q05

UniProtKB/Swiss-Prot:

TPPC9_HUMAN :
  • Belongs to the NIBP family.
Family:
  • Belongs to the NIBP family.
genes like me logo Genes that share domains with TRAPPC9: view

Function for TRAPPC9 Gene

Molecular function for TRAPPC9 Gene

UniProtKB/Swiss-Prot Function:
Functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. May function in neuronal cells differentiation. May play a role in vesicular transport from endoplasmic reticulum to Golgi.

Phenotypes From GWAS Catalog for TRAPPC9 Gene

Gene Ontology (GO) - Molecular Function for TRAPPC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21525244
genes like me logo Genes that share ontologies with TRAPPC9: view
genes like me logo Genes that share phenotypes with TRAPPC9: view

Human Phenotype Ontology for TRAPPC9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRAPPC9 Gene

MGI Knock Outs for TRAPPC9:
  • Trappc9 Trappc9<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRAPPC9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRAPPC9 Gene

Localization for TRAPPC9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRAPPC9 Gene

Golgi apparatus, cis-Golgi network. Endoplasmic reticulum. Cytoplasm. Note=Processes and cell bodies of neurons. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRAPPC9 gene
Compartment Confidence
cytosol 5
nucleus 4
endoplasmic reticulum 4
golgi apparatus 4
endosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRAPPC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IBA 21873635
genes like me logo Genes that share ontologies with TRAPPC9: view

Pathways & Interactions for TRAPPC9 Gene

genes like me logo Genes that share pathways with TRAPPC9: view

Gene Ontology (GO) - Biological Process for TRAPPC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021987 cerebral cortex development IMP 20004763
GO:0030154 cell differentiation IEA --
GO:0030182 neuron differentiation IEA --
GO:0048208 COPII vesicle coating TAS --
GO:0051092 positive regulation of NF-kappaB transcription factor activity IEA --
genes like me logo Genes that share ontologies with TRAPPC9: view

No data available for SIGNOR curated interactions for TRAPPC9 Gene

Drugs & Compounds for TRAPPC9 Gene

No Compound Related Data Available

Transcripts for TRAPPC9 Gene

mRNA/cDNA for TRAPPC9 Gene

6 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRAPPC9

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRAPPC9 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4:
SP5:

ExUns: 25 ^ 26 ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for TRAPPC9 Gene

GeneLoc Exon Structure for
TRAPPC9

Expression for TRAPPC9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRAPPC9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TRAPPC9 Gene

This gene is overexpressed in Brain (13.2), Peripheral blood mononuclear cells (11.5), Lymph node (8.4), and CD8 Tcells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRAPPC9 Gene



Protein tissue co-expression partners for TRAPPC9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRAPPC9

SOURCE GeneReport for Unigene cluster for TRAPPC9 Gene:

Hs.654911

mRNA Expression by UniProt/SwissProt for TRAPPC9 Gene:

Q96Q05-TPPC9_HUMAN
Tissue specificity: Expressed at high levels in muscle and kidney and to a lower extent in brain, heart and placenta.

Evidence on tissue expression from TISSUES for TRAPPC9 Gene

  • Lung(5)
  • Nervous system(4.8)
  • Skin(4.2)
  • Heart(2.3)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRAPPC9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with TRAPPC9: view

No data available for mRNA differential expression in normal tissues for TRAPPC9 Gene

Orthologs for TRAPPC9 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRAPPC9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRAPPC9 31 30
  • 99.04 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TRAPPC9 31 30
  • 89.33 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TRAPPC9 31 30
  • 86.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trappc9 30
  • 84.72 (n)
mouse
(Mus musculus)
Mammalia Trappc9 17 31 30
  • 84.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRAPPC9 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRAPPC9 31 30
  • 77.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRAPPC9 31
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trappc9 30
  • 74.12 (n)
Str.7342 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68567 30
zebrafish
(Danio rerio)
Actinopterygii TRAPPC9 (2 of 2) 31
  • 80 (a)
OneToMany
LOC100002630 30
  • 72.82 (n)
trappc9 31
  • 68 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009487 30
  • 48.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta bru 31 30
  • 47.61 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C35C5.6 30
  • 39.92 (n)
trpp-9 31
  • 21 (a)
OneToOne
Species where no ortholog for TRAPPC9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRAPPC9 Gene

ENSEMBL:
Gene Tree for TRAPPC9 (if available)
TreeFam:
Gene Tree for TRAPPC9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRAPPC9: view image

Paralogs for TRAPPC9 Gene

No data available for Paralogs for TRAPPC9 Gene

Variants for TRAPPC9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRAPPC9 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
41419 Pathogenic: Mental retardation, autosomal recessive 13 140,024,081(-) T/G SPLICE_ACCEPTOR_VARIANT
587878 Uncertain Significance: History of neurodevelopmental disorder 139,885,921(-) G/T MISSENSE_VARIANT
587904 Likely Benign: History of neurodevelopmental disorder 140,458,378(-) T/C MISSENSE_VARIANT
587938 Uncertain Significance: History of neurodevelopmental disorder 139,731,087(-) C/T MISSENSE_VARIANT
588070 Benign: History of neurodevelopmental disorder 140,451,367(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TRAPPC9 Gene

Structural Variations from Database of Genomic Variants (DGV) for TRAPPC9 Gene

Variant ID Type Subtype PubMed ID
dgv1224e201 CNV deletion 23290073
dgv1225e201 CNV deletion 23290073
dgv12361n54 CNV gain 21841781
dgv12362n54 CNV loss 21841781
dgv12363n54 CNV gain 21841781
dgv12364n54 CNV gain+loss 21841781
dgv12365n54 CNV loss 21841781
dgv12366n54 CNV loss 21841781
dgv12367n54 CNV gain 21841781
dgv3915n106 CNV tandem duplication 24896259
dgv900n27 CNV loss 19166990
dgv901n27 CNV loss 19166990
esv1029437 CNV deletion 17803354
esv1397058 CNV deletion 17803354
esv1555138 CNV deletion 17803354
esv1759028 CNV deletion 17803354
esv2002052 CNV deletion 18987734
esv2020062 CNV deletion 18987734
esv2064769 CNV deletion 18987734
esv2323808 CNV deletion 18987734
esv24098 CNV gain+loss 19812545
esv24765 CNV loss 19812545
esv2489107 CNV deletion 19546169
esv25086 CNV loss 19812545
esv2522775 CNV deletion 19546169
esv2630135 CNV deletion 19546169
esv2658801 CNV deletion 23128226
esv2659721 CNV deletion 23128226
esv2662748 CNV deletion 23128226
esv2666290 CNV deletion 23128226
esv2666401 CNV deletion 23128226
esv2672834 CNV deletion 23128226
esv2678434 CNV deletion 23128226
esv2678498 CNV deletion 23128226
esv2737720 CNV deletion 23290073
esv2737725 CNV deletion 23290073
esv2737726 CNV deletion 23290073
esv2737727 CNV deletion 23290073
esv2737728 CNV deletion 23290073
esv2737730 CNV deletion 23290073
esv2737731 CNV deletion 23290073
esv2737732 CNV deletion 23290073
esv2737733 CNV deletion 23290073
esv2737734 CNV deletion 23290073
esv2737736 CNV deletion 23290073
esv2737737 CNV deletion 23290073
esv2737738 CNV deletion 23290073
esv2737741 CNV deletion 23290073
esv2737742 CNV deletion 23290073
esv2737743 CNV deletion 23290073
esv2737744 CNV deletion 23290073
esv2737745 CNV deletion 23290073
esv2737746 CNV deletion 23290073
esv2737747 CNV deletion 23290073
esv2737748 CNV deletion 23290073
esv2737749 CNV deletion 23290073
esv2737750 CNV deletion 23290073
esv2737752 CNV deletion 23290073
esv2737753 CNV deletion 23290073
esv2737754 CNV deletion 23290073
esv2737755 CNV deletion 23290073
esv2737756 CNV deletion 23290073
esv2741441 CNV deletion 23290073
esv2759649 CNV loss 17122850
esv3304547 CNV mobile element insertion 20981092
esv3305510 CNV mobile element insertion 20981092
esv3335693 CNV duplication 20981092
esv3337336 CNV duplication 20981092
esv3357062 CNV insertion 20981092
esv3397561 CNV duplication 20981092
esv3415264 CNV insertion 20981092
esv3573019 CNV loss 25503493
esv3573021 CNV loss 25503493
esv3619021 CNV loss 21293372
esv3619023 CNV loss 21293372
esv3619028 CNV loss 21293372
esv3619029 CNV loss 21293372
esv3619030 CNV loss 21293372
esv3619031 CNV loss 21293372
esv3619033 CNV gain 21293372
esv3619034 CNV gain 21293372
esv3619035 CNV loss 21293372
esv3891493 CNV loss 25118596
esv3891494 CNV loss 25118596
esv7404 CNV loss 19470904
esv994027 CNV insertion 20482838
nsv1016232 CNV loss 25217958
nsv1016282 CNV gain 25217958
nsv1020260 CNV loss 25217958
nsv1026184 CNV gain 25217958
nsv1031937 CNV gain 25217958
nsv1076118 CNV deletion 25765185
nsv1076650 CNV duplication 25765185
nsv1078052 CNV duplication 25765185
nsv1110819 CNV insertion 24896259
nsv1110820 CNV insertion 24896259
nsv1116425 CNV insertion 24896259
nsv1116426 CNV insertion 24896259
nsv1124383 CNV deletion 24896259
nsv1124384 CNV deletion 24896259
nsv1126125 CNV deletion 24896259
nsv1128456 CNV deletion 24896259
nsv1132179 CNV deletion 24896259
nsv1133697 CNV deletion 24896259
nsv1140939 CNV deletion 24896259
nsv1143373 CNV deletion 24896259
nsv1145201 CNV deletion 24896259
nsv1147912 CNV deletion 26484159
nsv1152383 CNV deletion 26484159
nsv396630 CNV deletion 16902084
nsv396941 CNV insertion 16902084
nsv397143 CNV insertion 16902084
nsv465951 CNV loss 19166990
nsv472132 CNV novel sequence insertion 20440878
nsv473930 CNV novel sequence insertion 20440878
nsv475753 CNV novel sequence insertion 20440878
nsv478285 CNV novel sequence insertion 20440878
nsv478752 CNV novel sequence insertion 20440878
nsv480523 CNV novel sequence insertion 20440878
nsv481429 CNV novel sequence insertion 20440878
nsv507500 OTHER sequence alteration 20534489
nsv509282 CNV insertion 20534489
nsv509283 CNV insertion 20534489
nsv518058 CNV loss 19592680
nsv521446 CNV loss 19592680
nsv521508 CNV loss 19592680
nsv522837 CNV loss 19592680
nsv524624 CNV loss 19592680
nsv524887 CNV loss 19592680
nsv612544 CNV loss 21841781
nsv612545 CNV loss 21841781
nsv612558 CNV gain 21841781
nsv612562 CNV gain 21841781
nsv612566 CNV loss 21841781
nsv6426 CNV deletion 18451855
nsv824745 CNV gain 20364138
nsv831480 CNV loss 17160897
nsv956085 CNV deletion 24416366

Variation tolerance for TRAPPC9 Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.60; 65.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRAPPC9 Gene

Human Gene Mutation Database (HGMD)
TRAPPC9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRAPPC9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRAPPC9 Gene

Disorders for TRAPPC9 Gene

MalaCards: The human disease database

(15) MalaCards diseases for TRAPPC9 Gene - From: ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
  • autosomal recessive intellectual disability due to trappc9 deficiency
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
alacrima, achalasia, and mental retardation syndrome
  • aamr
non-syndromic intellectual disability
  • intellectual disability, non syndromic
speech disorder
  • speech disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TPPC9_HUMAN
  • Mental retardation, autosomal recessive 13 (MRT13) [MIM:613192]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Brain magnetic resonance imaging of MRT13 patients indicates the presence of mild cerebral white matter hypoplasia. Microcephaly is present in some but not all affected individuals. {ECO:0000269 PubMed:20004763, ECO:0000269 PubMed:20004765}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TRAPPC9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TRAPPC9: view

No data available for Genatlas for TRAPPC9 Gene

Publications for TRAPPC9 Gene

  1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 54
  2. 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 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41 54
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41 54

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Sources for TRAPPC9 Gene