Aliases for TBRG4 Gene

Aliases for TBRG4 Gene

  • Transforming Growth Factor Beta Regulator 4 2 3 4 5
  • FASTKD4 2 3 4
  • Cell Cycle Progression Restoration Protein 2 3 4
  • FAST Kinase Domain-Containing Protein 4 3 4
  • Cell Cycle Progression Protein 2 3 4
  • FAST Kinase Domains 4 2 3
  • H_TD2522F11.8 2 3
  • Protein TBRG4 3 4
  • KIAA0948 2 4
  • CPR2 3 4
  • Cell Cycle Progression 2 Protein 2
  • TBRG4 5
  • Cpr2 2

External Ids for TBRG4 Gene

Previous GeneCards Identifiers for TBRG4 Gene

  • GC07M044878
  • GC07M044910
  • GC07M045103
  • GC07M045023
  • GC07M045139

Summaries for TBRG4 Gene

GeneCards Summary for TBRG4 Gene

TBRG4 (Transforming Growth Factor Beta Regulator 4) is a Protein Coding gene. Diseases associated with TBRG4 include Waardenburg Syndrome, Type 3. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is FASTKD3.

UniProtKB/Swiss-Prot Summary for TBRG4 Gene

  • Plays a role in processing of mitochondrial RNA precursors and in stabilization of a subset of mature mitochondrial RNA species, such as MT-CO1, MT-CO2, MT-CYB, MT-CO3, MT-ND3, MT-ND5 and MT-ATP8/6. May play a role in cell cycle progression (PubMed:9383053).

Gene Wiki entry for TBRG4 Gene

Additional gene information for TBRG4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBRG4 Gene

Genomics for TBRG4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBRG4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBRG4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBRG4

Top Transcription factor binding sites by QIAGEN in the TBRG4 gene promoter:
  • AML1a
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Pax-4a
  • XBP-1
  • Zic1

Genomic Locations for TBRG4 Gene

Genomic Locations for TBRG4 Gene
chr7:45,100,100-45,112,047
(GRCh38/hg38)
Size:
11,948 bases
Orientation:
Minus strand
chr7:45,139,699-45,151,646
(GRCh37/hg19)
Size:
11,948 bases
Orientation:
Minus strand

Genomic View for TBRG4 Gene

Genes around TBRG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBRG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBRG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBRG4 Gene

Proteins for TBRG4 Gene

  • Protein details for TBRG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969Z0-FAKD4_HUMAN
    Recommended name:
    FAST kinase domain-containing protein 4
    Protein Accession:
    Q969Z0
    Secondary Accessions:
    • A4D2L2
    • A4D2L3
    • D3DVL5
    • D3DVL6
    • O14710
    • Q53GI8
    • Q8NDM4
    • Q9BUC6
    • Q9Y2F6

    Protein attributes for TBRG4 Gene

    Size:
    631 amino acids
    Molecular mass:
    70738 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB69312.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA76792.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TBRG4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBRG4 Gene

Post-translational modifications for TBRG4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TBRG4 Gene

Domains & Families for TBRG4 Gene

Gene Families for TBRG4 Gene

Protein Domains for TBRG4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TBRG4 Gene

GenScript: Design optimal peptide antigens:
  • Transforming growth factor beta regulator 4, isoform CRA_b (D3DVL7_HUMAN)
  • Transforming growth factor beta regulator 4 (TBRG4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q969Z0

UniProtKB/Swiss-Prot:

FAKD4_HUMAN :
  • RAP domain is required for TBRG4 function in mRNA stability and translation.
  • Belongs to the FAST kinase family.
Domain:
  • RAP domain is required for TBRG4 function in mRNA stability and translation.
Family:
  • Belongs to the FAST kinase family.
genes like me logo Genes that share domains with TBRG4: view

Function for TBRG4 Gene

Molecular function for TBRG4 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in processing of mitochondrial RNA precursors and in stabilization of a subset of mature mitochondrial RNA species, such as MT-CO1, MT-CO2, MT-CYB, MT-CO3, MT-ND3, MT-ND5 and MT-ATP8/6. May play a role in cell cycle progression (PubMed:9383053).

Phenotypes From GWAS Catalog for TBRG4 Gene

Gene Ontology (GO) - Molecular Function for TBRG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0004672 protein kinase activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TBRG4: view
genes like me logo Genes that share phenotypes with TBRG4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBRG4

Clone Products

  • Addgene plasmids for TBRG4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBRG4 Gene

Localization for TBRG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBRG4 Gene

Mitochondrion matrix.

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 TBRG4 gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBRG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20869947
GO:0005759 mitochondrial matrix IEA,IDA 28335001
genes like me logo Genes that share ontologies with TBRG4: view

Pathways & Interactions for TBRG4 Gene

PathCards logo

SuperPathways for TBRG4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBRG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007050 cell cycle arrest TAS 9383053
GO:0008284 positive regulation of cell proliferation TAS 9383053
GO:0016071 mRNA metabolic process IMP 28335001
GO:0044528 regulation of mitochondrial mRNA stability IMP 28335001
genes like me logo Genes that share ontologies with TBRG4: view

No data available for Pathways by source and SIGNOR curated interactions for TBRG4 Gene

Drugs & Compounds for TBRG4 Gene

No Compound Related Data Available

Transcripts for TBRG4 Gene

mRNA/cDNA for TBRG4 Gene

4 REFSEQ mRNAs :
15 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 TBRG4

Clone Products

  • Addgene plasmids for TBRG4

Alternative Splicing Database (ASD) splice patterns (SP) for TBRG4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^
SP1: - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - -
SP4: -
SP5: - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - - -
SP7: - - - - - -
SP8:
SP9: - - - - - - -
SP10: -
SP11: - -
SP12: -
SP13: - - - - - - -
SP14: - -
SP15: - - - - - - -
SP16: - - - - -
SP17: - - - -
SP18: - -
SP19: - - - -
SP20: -
SP21:
SP22:
SP23: -

ExUns: 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a · 12b · 12c · 12d ^ 13a · 13b · 13c · 13d · 13e ^ 14a · 14b ^ 15 ^ 16a · 16b
SP1: - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - -
SP5: - - - - - -
SP6: - - - - - - -
SP7:
SP8: - - -
SP9:
SP10: - - - - - -
SP11: -
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: -
SP20:
SP21: -
SP22: - -
SP23:

Relevant External Links for TBRG4 Gene

GeneLoc Exon Structure for
TBRG4

Expression for TBRG4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBRG4 Gene

Protein differential expression in normal tissues from HIPED for TBRG4 Gene

This gene is overexpressed in Bone (33.8) and Nasal epithelium (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TBRG4 Gene



Protein tissue co-expression partners for TBRG4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBRG4

SOURCE GeneReport for Unigene cluster for TBRG4 Gene:

Hs.231411

mRNA Expression by UniProt/SwissProt for TBRG4 Gene:

Q969Z0-FAKD4_HUMAN
Tissue specificity: Ubiquitously expressed (PubMed:12759187). Expression detected in spleen, thymus, testis, ovary, colon, heart, smooth muscle, kidney, brain, lung, liver and white adipose tissue with highest expression in smooth muscle (PubMed:20869947).

Evidence on tissue expression from TISSUES for TBRG4 Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Kidney(4.5)
  • Skin(3.5)
  • Intestine(2.7)
  • Blood(2.4)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with TBRG4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBRG4 Gene

Orthologs for TBRG4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBRG4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TBRG4 30 31
  • 99.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TBRG4 30 31
  • 81.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tbrg4 30
  • 80.1 (n)
Dog
(Canis familiaris)
Mammalia LOC482691 30
  • 79.65 (n)
TBRG4 31
  • 76 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Tbrg4 30 17 31
  • 79.09 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TBRG4 31
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TBRG4 31
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TBRG4 30 31
  • 60.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TBRG4 31
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tbrg4 30
  • 59.12 (n)
Str.7079 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68528 30
Zebrafish
(Danio rerio)
Actinopterygii tbrg4 30 31
  • 53.23 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9270 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG13850 31
  • 19 (a)
OneToOne
Species where no ortholog for TBRG4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Worm (Caenorhabditis elegans)

Evolution for TBRG4 Gene

ENSEMBL:
Gene Tree for TBRG4 (if available)
TreeFam:
Gene Tree for TBRG4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TBRG4: view image

Paralogs for TBRG4 Gene

Paralogs for TBRG4 Gene

genes like me logo Genes that share paralogs with TBRG4: view

Variants for TBRG4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBRG4 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
725589 Benign: not provided 45,109,054(-) G/T SYNONYMOUS_VARIANT
776220 Benign: not provided 45,103,396(-) G/A SYNONYMOUS_VARIANT
rs2304693 - p.Pro57Leu
rs2304694 - p.Ala22Ser

Additional dbSNP identifiers (rs#s) for TBRG4 Gene

Variation tolerance for TBRG4 Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.47; 77.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBRG4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBRG4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TBRG4 Gene

Disorders for TBRG4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBRG4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
waardenburg syndrome, type 3
  • ws3
- elite association - COSMIC cancer census association via MalaCards
Search TBRG4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TBRG4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TBRG4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBRG4 Gene

Publications for TBRG4 Gene

  1. Human CPR (cell cycle progression restoration) genes impart a Far- phenotype on yeast cells. (PMID: 9383053) Edwards MC … Elledge SJ (Genetics 1997) 2 3 4
  2. FASTKD1 and FASTKD4 have opposite effects on expression of specific mitochondrial RNAs, depending upon their endonuclease-like RAP domain. (PMID: 28335001) Boehm E … Martinou JC (Nucleic acids research 2017) 3 4
  3. Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration. (PMID: 20869947) Simarro M … Anderson P (Biochemical and biophysical research communications 2010) 3 4
  4. 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
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for TBRG4 Gene

Sources for TBRG4 Gene