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Aliases for TRIOBP Gene

Aliases for TRIOBP Gene

  • TRIO And F-Actin Binding Protein 2 3 5
  • Trio-Associated Repeat On Actin 3 4
  • Protein Tara 3 4
  • TARA 3 4
  • TRIO And F-Actin-Binding Protein 3
  • Tara-Like Protein 3
  • EC 3.6.3.14 61
  • HRIHFB2122 3
  • EC 6.3.5.5 61
  • EC 6.1.1.4 61
  • DJ37E16.4 3
  • KIAA1662 4
  • DFNB28 3
  • TAP68 3

External Ids for TRIOBP Gene

Previous HGNC Symbols for TRIOBP Gene

  • DFNB28

Previous GeneCards Identifiers for TRIOBP Gene

  • GC22P036447
  • GC22P038092
  • GC22P021064

Summaries for TRIOBP Gene

Entrez Gene Summary for TRIOBP Gene

  • This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]

GeneCards Summary for TRIOBP Gene

TRIOBP (TRIO And F-Actin Binding Protein) is a Protein Coding gene. Diseases associated with TRIOBP include Deafness, Autosomal Recessive 28 and Nonsyndromic Deafness. GO annotations related to this gene include ubiquitin protein ligase binding and GTP-Rho binding. An important paralog of this gene is MPRIP.

UniProtKB/Swiss-Prot for TRIOBP Gene

  • May regulate actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F-actin. The localized formation of TARA and TRIO complexes coordinates the amount of F-actin present in stress fibers. May also serve as a linker protein to recruit proteins required for F-actin formation and turnover.

Gene Wiki entry for TRIOBP Gene

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

Genomics for TRIOBP Gene

Regulatory Elements for TRIOBP Gene

Enhancers for TRIOBP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G037738 1.8 FANTOM5 Ensembl ENCODE dbSUPER 42.2 +44.7 44652 6.2 MLX ZNF133 FOS REST ZNF518A SMARCA4 GLIS1 RCOR2 HMBOX1 HNF4A TRIOBP H1F0 GCAT GGA1 ANKRD54 LOC102724378
GH22G037745 1.7 FANTOM5 ENCODE dbSUPER 22.5 +53.7 53727 10.9 HDGF FOXA2 PKNOX1 ARNT AGO1 SIN3A FEZF1 YY1 ZNF766 ZNF207 TRIOBP H1F0 GCAT GGA1 ENSG00000228274 LGALS2 ANKRD54 PICK1 LGALS1 POLR2F
GH22G037733 1.3 Ensembl ENCODE dbSUPER 26.5 +37.8 37765 1.7 ELF3 ARID4B ZNF48 RAD21 SLC30A9 ZNF143 PCBP1 MIXL1 THAP11 SP5 TRIOBP H1F0 LOC102724378
GH22G037774 1.5 Ensembl ENCODE dbSUPER 19.2 +79.1 79131 4.2 PKNOX1 ARNT SIN3A ARID4B FEZF1 YY1 TCF12 ZNF121 GATA2 ZNF143 TRIOBP PIR51912 H1F0
GH22G037727 1.2 Ensembl ENCODE dbSUPER 23 +31.4 31368 2.0 CTCF ZSCAN4 KLF17 CEBPB CEBPG MNT ATF2 ATF3 POLR2A IKZF1 ANKRD54 TRIOBP ENSG00000100101 LGALS1 LOC101927051 PDXP H1F0 GCAT GGA1 MIR659
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRIOBP on UCSC Golden Path with GeneCards custom track

Genomic Location for TRIOBP Gene

Chromosome:
22
Start:
37,696,988 bp from pter
End:
37,776,556 bp from pter
Size:
79,569 bases
Orientation:
Plus strand

Genomic View for TRIOBP Gene

Genes around TRIOBP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TRIOBP Gene

Proteins for TRIOBP Gene

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

    Protein Symbol:
    Q9H2D6-TARA_HUMAN
    Recommended name:
    TRIO and F-actin-binding protein
    Protein Accession:
    Q9H2D6
    Secondary Accessions:
    • B1AHD4
    • B1AHD7
    • F2Z2W0
    • F8W6V6
    • O94797
    • Q2PZW8
    • Q2Q3Z9
    • Q2Q400
    • Q5R3M6
    • Q96DW1
    • Q9BT77
    • Q9BTL7
    • Q9BY98
    • Q9Y3L4

    Protein attributes for TRIOBP Gene

    Size:
    2365 amino acids
    Molecular mass:
    261376 Da
    Quaternary structure:
    • Binds to TRIO and F-actin. May also interact with myosin II. Interacts with HECTD3.
    Miscellaneous:
    • Has been identified in PubMed:9853615 by a selection system for genes encoding nuclear-targeted protein.
    SequenceCaution:
    • Sequence=BAA34800.1; Type=Frameshift; Positions=478; Evidence={ECO:0000305};

    Alternative splice isoforms for TRIOBP Gene

neXtProt entry for TRIOBP Gene

Selected DME Specific Peptides for TRIOBP Gene

Q9H2D6:
  • NPRASRT
  • RVPLTAL
  • IEKKWQE

Post-translational modifications for TRIOBP Gene

  • Isoform 1: Phosphorylation at Thr-457 by PLK1 ensures mitotic progression and is essential for accurate chromosome segregation.
  • Ubiquitinated by HECTD3, leading to its degradation by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for TRIOBP Gene

Protein Domains for TRIOBP Gene

Graphical View of Domain Structure for InterPro Entry

Q9H2D6

UniProtKB/Swiss-Prot:

TARA_HUMAN :
  • Contains at least 2 actin-binding sites per coiled-coil dimer.
Domain:
  • Contains at least 2 actin-binding sites per coiled-coil dimer.
genes like me logo Genes that share domains with TRIOBP: view

Function for TRIOBP Gene

Molecular function for TRIOBP Gene

UniProtKB/Swiss-Prot Function:
May regulate actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F-actin. The localized formation of TARA and TRIO complexes coordinates the amount of F-actin present in stress fibers. May also serve as a linker protein to recruit proteins required for F-actin formation and turnover.

Enzyme Numbers (IUBMB) for TRIOBP Gene

Gene Ontology (GO) - Molecular Function for TRIOBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017049 GTP-Rho binding NAS 11148140
GO:0031625 ubiquitin protein ligase binding IPI 18194665
GO:0045159 myosin II binding NAS 11148140
GO:0051015 actin filament binding IDA,IEA 11148140
genes like me logo Genes that share ontologies with TRIOBP: view
genes like me logo Genes that share phenotypes with TRIOBP: view

Human Phenotype Ontology for TRIOBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRIOBP Gene

MGI Knock Outs for TRIOBP:

Animal Model Products

CRISPR Products

miRNA for TRIOBP Gene

miRTarBase miRNAs that target TRIOBP

Inhibitory RNA Products

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

Localization for TRIOBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRIOBP Gene

Nucleus. Cytoplasm, cytoskeleton. Note=Localized to F-actin in a periodic pattern.
Isoform 1: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Midbody. Note=Centrosomal localization occurs upon phosphorylation by PLK1 at Thr-457 and lasts from prophase to anaphase. At telophase, relocalizes to midbody.

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 TRIOBP gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for TRIOBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with TRIOBP: view

Pathways & Interactions for TRIOBP Gene

SuperPathways for TRIOBP Gene

No Data Available

SIGNOR curated interactions for TRIOBP Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TRIOBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0030047 actin modification NAS 11148140
GO:0032956 regulation of actin cytoskeleton organization IEA --
GO:0051016 barbed-end actin filament capping NAS 11148140
genes like me logo Genes that share ontologies with TRIOBP: view

No data available for Pathways by source for TRIOBP Gene

Drugs & Compounds for TRIOBP Gene

No Compound Related Data Available

Transcripts for TRIOBP Gene

Unigene Clusters for TRIOBP Gene

TRIO and F-actin binding protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c · 13d ^ 14a · 14b ^ 15 ^ 16 ^
SP1: - - - - -
SP2: - - - -
SP3:
SP4:
SP5: - - - - - -
SP6: - - - - -
SP7: - - -
SP8: - -
SP9:
SP10: - -
SP11: - - -
SP12: - - - - - -
SP13:

ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c · 21d ^ 22a · 22b
SP1: - - -
SP2: - - -
SP3: - -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - - - - - - - -
SP12:
SP13: -

Relevant External Links for TRIOBP Gene

GeneLoc Exon Structure for
TRIOBP
ECgene alternative splicing isoforms for
TRIOBP

Expression for TRIOBP Gene

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

Protein differential expression in normal tissues from HIPED for TRIOBP Gene

This gene is overexpressed in Urinary Bladder (8.5).

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



Protein tissue co-expression partners for TRIOBP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TRIOBP Gene:

TRIOBP

SOURCE GeneReport for Unigene cluster for TRIOBP Gene:

Hs.533030

mRNA Expression by UniProt/SwissProt for TRIOBP Gene:

Q9H2D6-TARA_HUMAN
Tissue specificity: Widely expressed. Highly expressed in heart and placenta. Isoform 3 is expressed in fetal brain, retina and cochlea but is not detectable in the other tissues.

Evidence on tissue expression from TISSUES for TRIOBP Gene

  • Nervous system(4.6)
  • Pancreas(4.4)
  • Intestine(4.2)
  • Liver(4.2)
  • Skin(3)
  • Lung(2.9)
  • Eye(2.7)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TRIOBP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TRIOBP Gene

Orthologs for TRIOBP Gene

This gene was present in the common ancestor of animals.

Orthologs for TRIOBP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TRIOBP 34 35
  • 89.56 (n)
chimpanzee
(Pan troglodytes)
Mammalia TRIOBP 35
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRIOBP 34 35
  • 84.79 (n)
rat
(Rattus norvegicus)
Mammalia Triobp 34
  • 79.98 (n)
mouse
(Mus musculus)
Mammalia Triobp 34 16 35
  • 79.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRIOBP 35
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRIOBP 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859397 34
  • 74.98 (n)
-- 35
  • 56 (a)
OneToMany
-- 35
  • 48 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia TRIOBP 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia triobp 34
  • 62.99 (n)
Str.1356 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.12480 34
zebrafish
(Danio rerio)
Actinopterygii triobp 35
  • 39 (a)
OneToMany
TRIOBP (2 of 2) 35
  • 24 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta osp 35
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F10G8.8 35
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 18 (a)
OneToMany
Species where no ortholog for TRIOBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 TRIOBP Gene

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

Paralogs for TRIOBP Gene

Paralogs for TRIOBP Gene

(3) SIMAP similar genes for TRIOBP Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for TRIOBP Gene

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

Variants for TRIOBP Gene

Sequence variations from dbSNP and Humsavar for TRIOBP Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_025719 Deafness, autosomal recessive, 28 (DFNB28) [MIM:609823]
rs118204026 Pathogenic 37,723,595(+) CCTCA(C/G/T)GAAGC reference, missense, stop-gained
rs118204027 Pathogenic 37,724,297(+) GTGCC(C/T)AGCGG reference, stop-gained
rs118204028 Pathogenic 37,723,445(+) CCCAA(C/T)AGGAA reference, stop-gained
rs118204029 Pathogenic 37,724,918(+) CCACA(C/T)GAGAC reference, stop-gained

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

Variant ID Type Subtype PubMed ID
esv1471410 CNV deletion 17803354
esv2658988 CNV deletion 23128226
esv2660524 CNV deletion 23128226
esv2724218 CNV deletion 23290073
esv2724219 CNV deletion 23290073
esv2758838 CNV loss 17122850
esv3575478 CNV gain 25503493
esv3647716 CNV loss 21293372
esv3647717 CNV loss 21293372
esv3647718 CNV loss 21293372
nsv1057617 CNV gain 25217958
nsv1122054 CNV deletion 24896259
nsv1123592 CNV deletion 24896259
nsv471197 CNV loss 18288195
nsv829203 CNV loss 20364138
nsv834191 CNV loss 17160897
nsv9903 CNV loss 18304495
nsv9904 CNV gain+loss 18304495

Variation tolerance for TRIOBP Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 23.05; 99.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRIOBP Gene

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

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

Disorders for TRIOBP Gene

MalaCards: The human disease database

(6) MalaCards diseases for TRIOBP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 28
  • autosomal recessive nonsyndromic deafness 28
nonsyndromic deafness
  • nonsyndromic hearing loss
dfnb28 nonsyndromic hearing loss and deafness
  • dfnb 28 nonsyndromic hearing loss and deafness
nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TARA_HUMAN
  • Deafness, autosomal recessive, 28 (DFNB28) [MIM:609823]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:16385457, ECO:0000269 PubMed:16385458}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TRIOBP

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

No data available for Genatlas for TRIOBP Gene

Publications for TRIOBP Gene

  1. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. (PMID: 16385457) Riazuddin S. … Friedman T.B. (Am. J. Hum. Genet. 2006) 2 3 4 22 64
  2. Mutations in a novel isoform of TRIOBP that encodes a filamentous- actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. (PMID: 16385458) Shahin H. … Kanaan M. (Am. J. Hum. Genet. 2006) 2 3 4 64
  3. Tara, a novel F-actin binding protein, associates with the Trio guanine nucleotide exchange factor and regulates actin cytoskeletal organization. (PMID: 11148140) Seipel K. … Streuli M. (J. Cell Sci. 2001) 2 3 4 64
  4. Phosphorylation of Tara by Plk1 is essential for faithful chromosome segregation in mitosis. (PMID: 22820163) Zhu Y. … Huang H. (Exp. Cell Res. 2012) 3 4 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for TRIOBP Gene

Sources for TRIOBP Gene

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