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Aliases for TUB Gene

Aliases for TUB Gene

  • Tubby Bipartite Transcription Factor 2 3 5
  • Tubby (Mouse) Homolog 2
  • Tubby Homolog (Mouse) 2
  • 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 obesity. 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 WDR35.

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

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

Genomics for TUB Gene

Regulatory Elements for TUB Gene

Promoters for TUB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TUB on UCSC Golden Path with GeneCards custom track

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

Proteomics data for TUB Gene at MOPED

Post-translational modifications for TUB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TUB Gene

Antibody Products

No data available for DME Specific Peptides for TUB Gene

Domains & Families for TUB Gene

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

No data available for Gene Families for TUB Gene

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TUB Gene COMPARTMENTS Subcellular localization image for TUB gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 4
cytoskeleton 3
plasma membrane 3
mitochondrion 2

No data available for Gene Ontology (GO) - Cellular Components for TUB Gene

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:1903441 protein localization to ciliary membrane 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:

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 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



SOURCE GeneReport for Unigene cluster for TUB Gene Hs.568986

genes like me logo Genes that share expression patterns with TUB: view

Protein tissue co-expression partners for TUB Gene

- Elite partner

Primer Products

In Situ Assay 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 35
  • 99.58 (n)
  • 99.64 (a)
TUB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TUB 36
  • 92 (a)
OneToOne
TUB 35
  • 90.02 (n)
  • 93.08 (a)
dog
(Canis familiaris)
Mammalia TUB 35
  • 91.67 (n)
  • 95.16 (a)
TUB 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tub 36
  • 94 (a)
OneToOne
Tub 16
Tub 35
  • 90.85 (n)
  • 95.12 (a)
oppossum
(Monodelphis domestica)
Mammalia TUB 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUB 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tub 35
  • 90.04 (n)
  • 95.33 (a)
chicken
(Gallus gallus)
Aves TUB 36
  • 73 (a)
OneToOne
TUB 35
  • 71.9 (n)
  • 79.34 (a)
lizard
(Anolis carolinensis)
Reptilia TUB 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12141 35
tub 35
  • 74.53 (n)
  • 81.63 (a)
zebrafish
(Danio rerio)
Actinopterygii TUB 36
  • 75 (a)
OneToOne
tub 35
  • 73.92 (n)
  • 80.5 (a)
fruit fly
(Drosophila melanogaster)
Insecta Tulp 37
  • 63 (a)
king-tubby 36
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tub-1 35
  • 57.18 (n)
  • 61.26 (a)
tub-1 36
  • 44 (a)
OneToMany
tub-1 37
  • 50 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6835 35
rice
(Oryza sativa)
Liliopsida Os03g0351400 35
  • 52.01 (n)
  • 46.06 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13886 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
OneToMany
Species with no ortholog for TUB:
  • 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
rs1317500 -- 8,089,574(-) TGCCC(A/G)TGAGG intron-variant
rs1406094 -- 8,040,379(+) CTGGG(A/C)GTCCC intron-variant
rs1406097 -- 8,087,174(-) GACTA(A/G)AGGTA intron-variant
rs1918849 -- 8,041,872(+) TCCAA(A/G)TTCAT intron-variant
rs2141320 -- 8,025,774(+) ATTCA(C/T)GTACA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7215 OTHER Inversion 18451855
nsv499766 OTHER Inversion 21111241
nsv428249 CNV Loss 18775914
esv1001231 CNV Insertion 20482838
esv25122 CNV Loss 19812545

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

HapMap Linkage Disequilibrium report
TUB
Human Gene Mutation Database (HGMD)
TUB

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

Disorders for TUB Gene

MalaCards: The human disease database

(4) MalaCards diseases for TUB Gene - From: OMIM, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinal dystrophy and obesity
  • rdob
obesity
  • obesity, association with
signet ring cell adenocarcinoma
  • signet ring carcinoma nos
retinitis pigmentosa
  • retinitis pigmentosa 1
- 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. Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. (PMID: 8612280) Kleyn P.W. … Moore K.J. (Cell 1996) 2 3 4 67
  2. The tubby-like proteins, a family with roles in neuronal development and function. (PMID: 11801719) Ikeda A. … Naggert J.K. (J. Cell. Sci. 2002) 3 23
  3. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. (PMID: 9096357) North M.A. … Nishina P.M. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 23
  4. Synergistic interaction of tubby and tubby-like protein 1 (Tulp1). (PMID: 24664737) Caberoy N.B. (Adv. Exp. Med. Biol. 2014) 3
  5. The global gene-expression profiles of U-937 human macrophages treated with Tat peptide and Tat-FITC conjugate. (PMID: 22632162) Lin C.W. … Jan M.S. (J Drug Target 2012) 3

Products for TUB Gene

Sources for TUB Gene

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