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TRIO Gene(Protein Coding)

Trio Rho Guanine Nucleotide Exchange Factor

GCID:
GC05P014143
GIFtS:
53
Genes Participants
UDN Logo

Aliases for TRIO Gene

Aliases for TRIO Gene

  • Trio Rho Guanine Nucleotide Exchange Factor 2 3 5
  • Triple Functional Domain (PTPRF Interacting) 2 3
  • PTPRF-Interacting Protein 3 4
  • EC 2.7.11.1 4 56
  • Triple Functional Domain Protein 3
  • ARHGEF23 3
  • MEBAS 3
  • MRD44 3
  • Tgat 3

External Ids for TRIO Gene

Previous GeneCards Identifiers for TRIO Gene

  • GC05U990059
  • GC05P014425
  • GC05P014176
  • GC05P014196

Summaries for TRIO Gene

Entrez Gene Summary for TRIO Gene

  • This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for TRIO Gene

TRIO (Trio Rho Guanine Nucleotide Exchange Factor) is a Protein Coding gene. Diseases associated with TRIO include Mental Retardation, Autosomal Dominant 44 and Microcephaly. Among its related pathways are p75 NTR receptor-mediated signalling and Developmental Biology. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is KALRN.

UniProtKB/Swiss-Prot for TRIO Gene

  • Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:8643598, PubMed:27418539). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202). In developing hippocampal neurons, limits dendrite formation, without affecting the establishment of axon polarity. Once dendrites are formed, involved in the control of synaptic function by regulating the endocytosis of AMPA-selective glutamate receptors (AMPARs) at CA1 excitatory synapses (By similarity). May act as a regulator of adipogenesis (By similarity).

Tocris Summary for TRIO Gene

  • GTPases are a group of enzymes that catalyze hydrolysis of the gamma phosphate bond in guanine triphosphate (GTP) to form guanine diphosphate (GDP). Mg2+ ions are essential for catalytic activity. GTPases, often coupled to G proteins, are essential in signal transduction.

Gene Wiki entry for TRIO Gene

Additional gene information for TRIO Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRIO Gene

Genomics for TRIO Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for TRIO Gene

Promoters and enhancers for TRIO 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
GH05I014138 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 565.5 +0.7 705 12 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF213 ZNF143 TRIO RBBP4P1 GC05P014542
GH05I014152 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 28 +12.9 12925 7.9 PKNOX1 FOXA2 SMAD1 SIN3A FEZF1 ZNF2 ZNF213 FOS DEK SP3 RBBP4P1 TRIO GC05P014542
GH05I014257 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 24.8 +121.1 121052 13.9 PKNOX1 CLOCK ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 IRF4 TRIO GC05P014542
GH05I014199 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23 +63.5 63514 15.5 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A FEZF1 IRF4 YY1 ZNF213 TRIO ANKH OTULIN GC05P014542
GH05I014663 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.6 +522.4 522351 5.8 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 OTULIN ENSG00000261360 TRIO EEF1A1P13 RBBP4P1 FAM105A GC05P014689
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TRIO on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TRIO gene promoter:

Genomic Locations for TRIO Gene

Genomic Locations for TRIO Gene
chr5:14,143,702-14,532,128
(GRCh38/hg38)
Size:
388,427 bases
Orientation:
Plus strand
chr5:14,143,811-14,532,235
(GRCh37/hg19)

Genomic View for TRIO Gene

Genes around TRIO on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TRIO Gene

Proteins for TRIO Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    O75962-TRIO_HUMAN
    Recommended name:
    Triple functional domain protein
    Protein Accession:
    O75962
    Secondary Accessions:
    • D3DTD1
    • Q13458
    • Q59EQ7
    • Q6PJC9
    • Q6ZN05
    • Q8IWK8

    Protein attributes for TRIO Gene

    Size:
    3097 amino acids
    Molecular mass:
    346900 Da
    Quaternary structure:
    • Interacts with CARMIL1 (PubMed:19846667). Interacts with PTPRF/LAR (PubMed:8643598). Interacts with ANKRD26 (PubMed:22666460).
    SequenceCaution:
    • Sequence=AAC34245.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAC34245.1; Type=Frameshift; Positions=2301; Evidence={ECO:0000305}; Sequence=AAC43042.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TRIO Gene

    Alternative splice isoforms for TRIO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRIO Gene

Protein Expression for TRIO Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for TRIO Gene

O75962:
  • NIFLKELEKYEQLPEDVGHCFVTWADKFQMYV
  • KTHQSALQVQQKAE
  • ELNEEKR
  • QRENRVLH
  • IWQHRKVRLHQRLQLCVFQQ
  • GHYASQQI
  • RRKHQND
  • KRRLDQCQQYVVFERSAKQAL
  • LLDMSVSFHTH
  • VCKRGFTVI
  • ANYSKAVH
  • DPCKFAL
  • SPIEYQR
  • KYQLLLK
  • FLQLRIFE
  • LDQCFQLRLFEQDAEKMFDWI
  • LSGVSPFLD
  • IHVALIIKPDNFWQKQ

Post-translational modifications for TRIO Gene

Other Protein References for TRIO Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TRIO Gene

Gene Families for TRIO Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for TRIO Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TRIO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75962

UniProtKB/Swiss-Prot:

TRIO_HUMAN :
  • The N-terminal DBL/GEF domain specifically catalyzes nucleotide exchange for RAC1, leading to the activation of Jun kinase and the production of membrane ruffles. The second DBL/GEF domain is an exchange factor for rhoa and induces the formation of stress fibers.
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Domain:
  • The N-terminal DBL/GEF domain specifically catalyzes nucleotide exchange for RAC1, leading to the activation of Jun kinase and the production of membrane ruffles. The second DBL/GEF domain is an exchange factor for rhoa and induces the formation of stress fibers.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
genes like me logo Genes that share domains with TRIO: view

Function for TRIO Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for TRIO Gene

GENATLAS Biochemistry:
trio phosphoprotein,with three enzymze domains,binding the LAR transmembrane tyrosine phosphatase (PTPRF),likely involved in active cell migration
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:8643598, PubMed:27418539). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202). In developing hippocampal neurons, limits dendrite formation, without affecting the establishment of axon polarity. Once dendrites are formed, involved in the control of synaptic function by regulating the endocytosis of AMPA-selective glutamate receptors (AMPARs) at CA1 excitatory synapses (By similarity). May act as a regulator of adipogenesis (By similarity).

Enzyme Numbers (IUBMB) for TRIO Gene

Phenotypes From GWAS Catalog for TRIO Gene

Gene Ontology (GO) - Molecular Function for TRIO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005085 guanyl-nucleotide exchange factor activity IEA,TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS,IEA --
GO:0005515 protein binding IPI 17043677
genes like me logo Genes that share ontologies with TRIO: view
genes like me logo Genes that share phenotypes with TRIO: view

Human Phenotype Ontology for TRIO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRIO Gene

MGI Knock Outs for TRIO:

No data available for Transcription Factor Targets and HOMER Transcription for TRIO Gene

Localization for TRIO Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRIO Gene

Cytoplasm.

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 TRIO gene
Compartment Confidence
cytosol 5
nucleus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRIO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TRIO: view

Pathways & Interactions for TRIO Gene

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

Pathways by source for TRIO Gene

2 BioSystems pathways for TRIO Gene
1 GeneGo (Thomson Reuters) pathway for TRIO Gene
2 Qiagen pathways for TRIO Gene

Gene Ontology (GO) - Biological Process for TRIO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007185 transmembrane receptor protein tyrosine phosphatase signaling pathway TAS 8643598
GO:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0016310 phosphorylation IEA --
GO:0035023 regulation of Rho protein signal transduction IEA --
genes like me logo Genes that share ontologies with TRIO: view

No data available for SIGNOR curated interactions for TRIO Gene

Drugs & Compounds for TRIO Gene

Products:

  1. Drug

(6) Drugs for TRIO Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
8-CPT-2Me-cAMP, sodium salt Pharma EPAC agonist, selective, Selective Epac activator 0
8-pCPT-2-O-Me-cAMP-AM Pharma Selective Epac activator; cell-permeable analog of 8CPT-2Me-cAMP (Cat. No. 1645) 0

(2) Additional Compounds for TRIO Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for TRIO Gene

Compound Action Cas Number
8-CPT-2Me-cAMP, sodium salt Selective Epac activator 634207-53-7
8-pCPT-2-O-Me-cAMP-AM Selective Epac activator; cell-permeable analog of 8CPT-2Me-cAMP (Cat. No. 1645) 1152197-23-3
ESI 09 EPAC inhibitor 263707-16-0
Salirasib Ras inhibitor; also induces autophagy 162520-00-5
genes like me logo Genes that share compounds with TRIO: view

Transcripts for TRIO Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TRIO Gene

(8) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(383) Selected AceView cDNA sequences:
(25) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TRIO Gene

Trio Rho guanine nucleotide exchange factor:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2: - -
SP3:
SP4: -
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36a · 36b · 36c ^ 37 ^ 38a · 38b ^ 39a · 39b · 39c ^ 40a · 40b ^ 41 ^ 42 ^
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16:
SP17:

ExUns: 43 ^ 44 ^ 45a · 45b ^ 46 ^ 47 ^ 48a · 48b ^ 49a · 49b ^ 50 ^ 51a · 51b ^ 52a · 52b · 52c · 52d ^ 53a · 53b ^ 54a · 54b ^ 55 ^ 56a · 56b ^ 57a · 57b ^
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - -
SP4:
SP5: - - -
SP6:
SP7:
SP8:
SP9: -
SP10: - - -
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:

ExUns: 58 ^ 59a · 59b ^ 60 ^ 61a · 61b ·
SP1: -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for TRIO Gene

GeneLoc Exon Structure for
TRIO
ECgene alternative splicing isoforms for
TRIO

Expression for TRIO Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for TRIO Gene
mRNA expression by GTEx for TRIO GenemRNA expression by BioGPS for TRIO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TRIO Gene

This gene is overexpressed in Fetal Brain (33.2) and Adrenal (8.3).

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



Protein tissue co-expression partners for TRIO Gene

NURSA nuclear receptor signaling pathways regulating expression of TRIO Gene:

TRIO

SOURCE GeneReport for Unigene cluster for TRIO Gene:

Hs.130031

mRNA Expression by UniProt/SwissProt for TRIO Gene:

O75962-TRIO_HUMAN
Tissue specificity: Widely expressed, with highest levels in heart, skeletal muscle, and brain.

Evidence on tissue expression from TISSUES for TRIO Gene

  • Nervous system(4.8)
  • Kidney(4.2)
  • Lung(2.3)
genes like me logo Genes that share expression patterns with TRIO: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRIO Gene

Orthologs for TRIO Gene

This gene was present in the common ancestor of animals.

Orthologs for TRIO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia TRIO 33 34
  • 99.11 (n)
oppossum
(Monodelphis domestica)
 Mammalia TRIO 34
  • 96 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia TRIO 34
  • 94 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TRIO 34
  • 93 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia TRIO 33 34
  • 90.95 (n)
rat
(Rattus norvegicus)
 Mammalia Trio 33
  • 89.34 (n)
mouse
(Mus musculus)
 Mammalia Trio 33 16 34
  • 89.06 (n)
chicken
(Gallus gallus)
 Aves TRIO 33 34
  • 83.2 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 93 (a)
 OneToMany
-- 34
  • 92 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia trio 33
  • 78 (n)
Str.3582 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.23955 33
zebrafish
(Danio rerio)
 Actinopterygii triob 34
  • 79 (a)
 OneToMany
trioa 33 34
  • 75.8 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006107 33
  • 55.82 (n)
fruit fly
(Drosophila melanogaster)
 Insecta trio 35 33 34
  • 53.49 (n)
worm
(Caenorhabditis elegans)
 Secernentea unc-73 35 33
  • 44.4 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 29 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.3253 33
Species where no ortholog for TRIO 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 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 TRIO Gene

ENSEMBL:
Gene Tree for TRIO (if available)
TreeFam:
Gene Tree for TRIO (if available)

Paralogs for TRIO Gene

Paralogs for TRIO Gene

(22) SIMAP similar genes for TRIO Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TRIO: view

Variants for TRIO Gene

Sequence variations from dbSNP and Humsavar for TRIO Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1057516029 pathogenic, Mental retardation, autosomal dominant 44 14,290,809(+) G/T coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs756004023 Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] 14,387,579(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs768858988 Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] 14,498,161(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs771342869 Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] 14,482,717(+) C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs879255622 pathogenic, Mental retardation, autosomal dominant 44 14,390,300(+) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
dgv1074e214 CNV gain 21293372
dgv3045n106 CNV tandem duplication 24896259
dgv3046n106 CNV deletion 24896259
dgv3226e59 CNV duplication 20981092
dgv5577n100 CNV gain 25217958
dgv9600n54 CNV loss 21841781
dgv9601n54 CNV gain 21841781
dgv9602n54 CNV gain 21841781
dgv9603n54 CNV loss 21841781
dgv9604n54 CNV gain 21841781
esv1007471 CNV insertion 20482838
esv2138858 CNV deletion 18987734
esv2410391 CNV deletion 18987734
esv2421652 CNV deletion 20811451
esv24520 CNV loss 19812545
esv2537252 CNV deletion 19546169
esv26100 CNV loss 19812545
esv2658101 CNV deletion 23128226
esv2672857 CNV deletion 23128226
esv2676264 CNV deletion 23128226
esv2729808 CNV deletion 23290073
esv2729809 CNV deletion 23290073
esv2729810 CNV deletion 23290073
esv2729811 CNV deletion 23290073
esv2729812 CNV deletion 23290073
esv2729813 CNV deletion 23290073
esv2752061 CNV gain 17911159
esv2760949 CNV gain+loss 21179565
esv3565561 CNV deletion 23714750
esv3604082 CNV gain 21293372
esv3604085 CNV loss 21293372
esv3604086 CNV loss 21293372
esv3894136 CNV gain 25118596
esv3894138 CNV loss 25118596
nsv1018187 CNV gain 25217958
nsv1026914 CNV gain 25217958
nsv1073862 CNV deletion 25765185
nsv1074814 CNV deletion 25765185
nsv1074815 CNV deletion 25765185
nsv1111295 CNV tandem duplication 24896259
nsv1123915 CNV deletion 24896259
nsv1126713 CNV deletion 24896259
nsv1145054 CNV deletion 24896259
nsv1145055 CNV deletion 24896259
nsv442938 CNV loss 18776908
nsv471939 CNV novel sequence insertion 20440878
nsv4724 CNV deletion 18451855
nsv4725 CNV deletion 18451855
nsv511275 CNV gain 21212237
nsv516415 CNV gain+loss 19592680
nsv597228 CNV gain 21841781
nsv597235 CNV loss 21841781
nsv597240 CNV loss 21841781
nsv823008 CNV gain 20364138
nsv823010 CNV loss 20364138
nsv823011 CNV gain 20364138
nsv830209 CNV gain 17160897
nsv830210 CNV gain 17160897
nsv830211 CNV loss 17160897
nsv950650 CNV deletion 24416366
nsv950651 CNV deletion 24416366
nsv958287 CNV deletion 24416366

Variation tolerance for TRIO Gene

Residual Variation Intolerance Score: 0.151% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.56; 65.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRIO Gene

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

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

Disorders for TRIO Gene

MalaCards: The human disease database

(2) MalaCards diseases for TRIO Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 44
  • mrd44
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search TRIO in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRIO_HUMAN
  • Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD44 patients manifest developmental delay, variable intellectual disability, distinctive facial features, and abnormalities of the fingers. Most patients also have microcephaly. {ECO:0000269 PubMed:26721934, ECO:0000269 PubMed:27418539}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TRIO

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 TRIO: view

No data available for Genatlas for TRIO Gene

Publications for TRIO Gene

  1. NMR structure and mutagenesis of the N-terminal Dbl homology domain of the nucleotide exchange factor Trio. (PMID: 9790533) Liu X … Fesik SW (Cell 1998) 3 4 22 58
  2. The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains. (PMID: 8643598) Debant A … Streuli M (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 58
  3. TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. (PMID: 26721934) Ba W … De Vries BB (Human molecular genetics 2016) 3 4 58
  4. ANKRD26 and its interacting partners TRIO, GPS2, HMMR and DIPA regulate adipogenesis in 3T3-L1 cells. (PMID: 22666460) Liu XF … Pastan I (PloS one 2012) 3 4 58
  5. 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 44 58

Products for TRIO Gene

  • Addgene plasmids for TRIO

Sources for TRIO Gene

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