Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TUB Gene

Aliases for TUB Gene

  • Tubby Bipartite Transcription Factor 2 3 5
  • Tubby (Mouse) Homolog 2
  • Tubby Homolog (Mouse) 2
  • Tubby Protein Homolog 3
  • Tubby Homologue 3
  • Tubby Homolog 3
  • RDOB 3
  • Rd5 3

External Ids for TUB Gene

Previous GeneCards Identifiers for TUB Gene

  • GC11P008828
  • GC11P008520
  • GC11P007999
  • GC11P008024
  • GC11P008016
  • GC11P007727

Summaries for TUB Gene

Entrez Gene Summary for TUB Gene

  • This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TUB Gene

TUB (Tubby Bipartite Transcription Factor) is a Protein Coding gene. Diseases associated with TUB include Retinal Dystrophy And Obesity and Retinitis Pigmentosa. Among its related pathways are Presynaptic function of Kainate receptors and Transcription_Transcription factor Tubby signaling pathways. GO annotations related to this gene include protein complex binding and G-protein coupled photoreceptor activity. An important paralog of this gene is TULP3.

UniProtKB/Swiss-Prot for TUB Gene

  • Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.

Gene Wiki entry for TUB Gene

Additional gene information for TUB Gene

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

Genomics for TUB Gene

Regulatory Elements for TUB Gene

Enhancers for TUB 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
GH11H008067 1.1 Ensembl ENCODE 17.8 +49.8 49797 2 PKNOX1 FEZF1 RFX5 YY1 GATA2 RCOR1 FOS USF2 ZEB2 REST TUB ENSG00000254921 CASC23 ENSG00000279391 TUB-AS1
GH11H008204 2 VISTA Ensembl ENCODE dbSUPER 9.5 +187.6 187638 4 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 ATF7 NCOA1 REST RIC3 LOC101927936 TUB CASC23 EIF3F GC11M008201 GC11P008198
GH11H008018 1.1 FANTOM5 ENCODE 17.1 +0.3 269 1 BMI1 GLIS2 ZNF366 SCRT2 FOS EGR2 ZNF398 CBX8 RFX3 ZNF341 TUB RIC3 OR10A3 GC11P008020
GH11H008080 1.1 ENCODE dbSUPER 16.7 +62.9 62938 3 CTCF CHD4 KLF17 ZNF324 ZNF121 ZFHX2 GLIS2 POLR2A ZBTB48 PATZ1 TUB CASC23 ENSG00000254921 LOC100506258 TRIM66 RIC3 ENSG00000279391 PIR31183
GH11H007975 1.3 Ensembl ENCODE dbSUPER 10.3 -41.7 -41696 3 HDAC1 GTF2F1 TBP MXI1 TAL1 JUN MAX ZNF175 ZMYM3 CEBPG EIF3F CASC23 TUB OVCH2 COX6CP5 PIR63023
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TUB on UCSC Golden Path with GeneCards custom track

Promoters for TUB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000036418 320 1001 CTCF MXI1 ZNF777 SUZ12 BMI1 HIC1 ZFHX2 GLIS2 ZBTB48 ZNF366

Genomic Location for TUB Gene

Chromosome:
11
Start:
8,019,180 bp from pter
End:
8,106,241 bp from pter
Size:
87,062 bases
Orientation:
Plus strand

Genomic View for TUB Gene

Genes around TUB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TUB Gene

Proteins for TUB Gene

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

    Protein Symbol:
    P50607-TUB_HUMAN
    Recommended name:
    Tubby protein homolog
    Protein Accession:
    P50607
    Secondary Accessions:
    • D3DQU4
    • O00293
    • Q6B007

    Protein attributes for TUB Gene

    Size:
    506 amino acids
    Molecular mass:
    55651 Da
    Quaternary structure:
    • Interacts with GNAQ. Interacts with TULP1.

    Three dimensional structures from OCA and Proteopedia for TUB Gene

    Alternative splice isoforms for TUB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TUB Gene

Post-translational modifications for TUB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TUB Gene

No data available for DME Specific Peptides for TUB Gene

Domains & Families for TUB Gene

Gene Families for TUB Gene

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

Protein Domains for TUB Gene

Suggested Antigen Peptide Sequences for TUB Gene

Graphical View of Domain Structure for InterPro Entry

P50607

UniProtKB/Swiss-Prot:

TUB_HUMAN :
  • Belongs to the TUB family.
Family:
  • Belongs to the TUB family.
genes like me logo Genes that share domains with TUB: view

Function for TUB Gene

Molecular function for TUB Gene

GENATLAS Biochemistry:
tubby gene homolog of mouse (Tub) of mild naturity onset obesity,progressive retinal and cochlear degeneration,expressed in cochlea,retina,brain,testis
UniProtKB/Swiss-Prot Function:
Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.

Phenotypes From GWAS Catalog for TUB Gene

Gene Ontology (GO) - Molecular Function for TUB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032403 protein complex binding IDA 20889716
GO:0035091 phosphatidylinositol binding IBA --
genes like me logo Genes that share ontologies with TUB: view
genes like me logo Genes that share phenotypes with TUB: view

Human Phenotype Ontology for TUB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TUB Gene

MGI Knock Outs for TUB:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TUB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for TUB Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUB Gene

Cytoplasm. Nucleus. Secreted. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Binds phospholipid and is anchored to the plasma membrane through binding phosphatidylinositol 4,5-bisphosphate. Is released upon activation of phospholipase C. Translocates from the plasma membrane to the nucleus upon activation of guanine nucleotide-binding protein G(q) subunit alpha. Does not have a cleavable signal peptide and is secreted by a non-conventional pathway (By similarity). {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 TUB gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 4
plasma membrane 3
cytoskeleton 3
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Microtubule organizing center (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TUB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IEA,TAS --
GO:0005737 cytoplasm TAS 11000483
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with TUB: view

Pathways & Interactions for TUB Gene

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

Pathways by source for TUB Gene

1 GeneGo (Thomson Reuters) pathway for TUB Gene
1 Qiagen pathway for TUB Gene

Gene Ontology (GO) - Biological Process for TUB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006909 phagocytosis IEA --
GO:0006910 phagocytosis, recognition IEA --
GO:0007605 sensory perception of sound IEA --
GO:0009725 response to hormone IEA --
GO:0045494 photoreceptor cell maintenance IEA --
genes like me logo Genes that share ontologies with TUB: view

No data available for SIGNOR curated interactions for TUB Gene

Drugs & Compounds for TUB Gene

(1) Drugs for TUB Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Alpha-Glycerophospho-D-Myo-Inositol-4,5-Bis-Phosphate Experimental Pharma Target 0
genes like me logo Genes that share compounds with TUB: view

Transcripts for TUB Gene

Unigene Clusters for TUB Gene

Tubby homolog (mouse):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TUB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - - - - -
SP2:
SP3: -
SP4:

Relevant External Links for TUB Gene

GeneLoc Exon Structure for
TUB
ECgene alternative splicing isoforms for
TUB

Expression for TUB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TUB Gene

This gene is overexpressed in Fetal Brain (31.7) and Retina (31.6).

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



Protein tissue co-expression partners for TUB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TUB Gene:

TUB

SOURCE GeneReport for Unigene cluster for TUB Gene:

Hs.568986

Evidence on tissue expression from TISSUES for TUB Gene

  • Nervous system(4.7)
  • Skin(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with TUB: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TUB Gene

Orthologs for TUB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TUB 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia TUB 33 34
  • 91.67 (n)
mouse
(Mus musculus)
Mammalia Tub 33 16 34
  • 90.85 (n)
rat
(Rattus norvegicus)
Mammalia Tub 33
  • 90.04 (n)
cow
(Bos Taurus)
Mammalia TUB 33 34
  • 90.02 (n)
oppossum
(Monodelphis domestica)
Mammalia TUB 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUB 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves TUB 33 34
  • 71.9 (n)
lizard
(Anolis carolinensis)
Reptilia TUB 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tub 33
  • 74.53 (n)
Str.12141 33
zebrafish
(Danio rerio)
Actinopterygii TUB 34
  • 75 (a)
OneToOne
tub 33
  • 73.92 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tulp 35
  • 63 (a)
king-tubby 34
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tub-1 35 33 34
  • 57.18 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6835 33
rice
(Oryza sativa)
Liliopsida Os03g0351400 33
  • 52.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13886 33
Species where no ortholog for TUB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 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 TUB Gene

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

Paralogs for TUB Gene

Paralogs for TUB Gene

(3) SIMAP similar genes for TUB Gene using alignment to 4 proteins:

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

Variants for TUB Gene

Sequence variations from dbSNP and Humsavar for TUB Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs727502810 Pathogenic 8,100,580(+) GAGAG(-/AG)TCTCT intron-variant, reference, frameshift-variant
rs1000006631 -- 8,092,818(+) TAGTT(A/G)CCTCC intron-variant, downstream-variant-500B
rs1000036415 -- 8,099,076(+) AGCCG(A/G)CCATC intron-variant
rs1000060116 -- 8,086,407(+) CTATT(A/G)AGGAA intron-variant
rs1000066580 -- 8,068,617(+) TCTAC(C/T)TTTAC intron-variant, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
esv1001231 CNV insertion 20482838
esv25122 CNV loss 19812545
esv3579352 CNV loss 25503493
esv3579353 CNV loss 25503493
nsv428249 CNV loss 18775914
nsv473005 CNV novel sequence insertion 20440878
nsv499766 OTHER inversion 21111241
nsv7215 OTHER inversion 18451855

Variation tolerance for TUB Gene

Residual Variation Intolerance Score: 16.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.06; 50.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUB Gene

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

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

Disorders for TUB Gene

MalaCards: The human disease database

(6) MalaCards diseases for TUB Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinal dystrophy and obesity
  • rdob
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis pigmentosa 14
  • rp14
deafness, autosomal recessive 26
  • autosomal recessive nonsyndromic deafness 26
obesity
  • obesity, association with
- elite association - COSMIC cancer census association via MalaCards
Search TUB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TUB_HUMAN
  • Retinal dystrophy and obesity (RDOB) [MIM:616188]: A disease characterized by obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy. {ECO:0000269 PubMed:24375934}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TUB

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

No data available for Genatlas for TUB Gene

Publications for TUB Gene

  1. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. (PMID: 9096357) North MA … Nishina PM (Proceedings of the National Academy of Sciences of the United States of America 1997) 3 4 22 60
  2. Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. (PMID: 8612280) Kleyn PW … Moore KJ (Cell 1996) 2 3 4 60
  3. 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 SD … DREAM investigators (Diabetes care 2010) 3 45 60
  4. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. (PMID: 20080650) Xu J … Isaacs WB (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 45 60
  5. Identification of tubby and tubby-like protein 1 as eat-me signals by phage display. (PMID: 19837063) Caberoy NB … Li W (Experimental cell research 2010) 3 4 60

Products for TUB Gene

Sources for TUB Gene

Content
Loading form....