Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7289
Gene name Gene Name - the full gene name approved by the HGNC.
TUB like protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TULP3
Synonyms (NCBI Gene) Gene synonyms aliases
HRCDF, TUBL3
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a cons
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017823 hsa-miR-335-5p Microarray 18185580
MIRT038740 hsa-miR-93-3p CLASH 23622248
MIRT439373 hsa-miR-539-5p HITS-CLIP 24374217
MIRT439373 hsa-miR-539-5p HITS-CLIP 24374217
MIRT1463784 hsa-miR-1293 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IDA 28154160
GO:0001841 Process Neural tube formation IEA
GO:0001843 Process Neural tube closure IEA
GO:0005515 Function Protein binding IPI 22190034, 25416956, 28514442, 31515488, 32296183, 33961781, 35271311
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding NAS 11375483
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604730 12425 ENSG00000078246
Protein
UniProt ID O75386
Protein name Tubby-related protein 3 (Tubby-like protein 3)
Protein function Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein-coupled receptor GPR161 to cilia, a promoter of PKA-dependent ba
PDB 8FH3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16322 Tub_N 30 87 Tubby N-terminal Family
PF01167 Tub 194 437 Tub family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in testis, ovaries, thyroid, and spinal cord. {ECO:0000269|PubMed:9828123}.
Sequence
Sequence length 442
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Hedgehog 'off' state
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Aneurysm Abdominal Associate 31868202
Carcinoma Pancreatic Ductal Associate 30640939
Colonic Neoplasms Associate 30640939
Colorectal Neoplasms Stimulate 30640939
Developmental Disabilities Associate 33187986
Glaucoma Open Angle Associate 21310917
Hypospadias Associate 32728162
Polycystic Kidney Diseases Associate 33187986
Rectal Neoplasms Associate 30640939