Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7289
Gene name	TUB like protein 3
Gene symbol	TULP3
Synonyms (NCBI Gene)	HRCDFTUBL3
Chromosome	12
Chromosome location	12p13.33
Summary	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

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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
MIRT1463785	hsa-miR-2392	CLIP-seq
MIRT1463786	hsa-miR-323-5p	CLIP-seq
MIRT1463787	hsa-miR-342-5p	CLIP-seq
MIRT1463788	hsa-miR-3664-3p	CLIP-seq
MIRT1463789	hsa-miR-4447	CLIP-seq
MIRT1463790	hsa-miR-4472	CLIP-seq
MIRT1463791	hsa-miR-4483	CLIP-seq
MIRT1463792	hsa-miR-4651	CLIP-seq
MIRT1463793	hsa-miR-4664-5p	CLIP-seq
MIRT1463794	hsa-miR-608	CLIP-seq
MIRT1463795	hsa-miR-876-3p	CLIP-seq
MIRT1463796	hsa-miR-1207-5p	CLIP-seq
MIRT1463797	hsa-miR-1237	CLIP-seq
MIRT1463798	hsa-miR-1253	CLIP-seq
MIRT1463799	hsa-miR-1321	CLIP-seq
MIRT1463800	hsa-miR-137	CLIP-seq
MIRT1463801	hsa-miR-143	CLIP-seq
MIRT1463802	hsa-miR-147	CLIP-seq
MIRT1463803	hsa-miR-1910	CLIP-seq
MIRT1463804	hsa-miR-223	CLIP-seq
MIRT1463805	hsa-miR-23a	CLIP-seq
MIRT1463806	hsa-miR-23b	CLIP-seq
MIRT1463807	hsa-miR-23c	CLIP-seq
MIRT1463808	hsa-miR-296-3p	CLIP-seq
MIRT1463809	hsa-miR-3120-5p	CLIP-seq
MIRT1463810	hsa-miR-3126-5p	CLIP-seq
MIRT1463811	hsa-miR-3127-5p	CLIP-seq
MIRT1463812	hsa-miR-3140-5p	CLIP-seq
MIRT1463813	hsa-miR-3150a-3p	CLIP-seq
MIRT1463814	hsa-miR-3151	CLIP-seq
MIRT1463815	hsa-miR-3154	CLIP-seq
MIRT1463816	hsa-miR-3175	CLIP-seq
MIRT1463817	hsa-miR-3179	CLIP-seq
MIRT1463818	hsa-miR-3182	CLIP-seq
MIRT1463819	hsa-miR-3202	CLIP-seq
MIRT1463820	hsa-miR-323-3p	CLIP-seq
MIRT1463821	hsa-miR-346	CLIP-seq
MIRT1463822	hsa-miR-3688-3p	CLIP-seq
MIRT1463823	hsa-miR-369-3p	CLIP-seq
MIRT1463824	hsa-miR-3919	CLIP-seq
MIRT1463825	hsa-miR-3934	CLIP-seq
MIRT1463826	hsa-miR-4252	CLIP-seq
MIRT1463827	hsa-miR-4261	CLIP-seq
MIRT1463828	hsa-miR-4268	CLIP-seq
MIRT1463829	hsa-miR-4270	CLIP-seq
MIRT1463830	hsa-miR-4271	CLIP-seq
MIRT1463831	hsa-miR-4288	CLIP-seq
MIRT1463832	hsa-miR-4419a	CLIP-seq
MIRT1463833	hsa-miR-4434	CLIP-seq
MIRT1463834	hsa-miR-4441	CLIP-seq
MIRT1463789	hsa-miR-4447	CLIP-seq
MIRT1463835	hsa-miR-4448	CLIP-seq
MIRT1463836	hsa-miR-4470	CLIP-seq
MIRT1463790	hsa-miR-4472	CLIP-seq
MIRT1463837	hsa-miR-4493	CLIP-seq
MIRT1463838	hsa-miR-4510	CLIP-seq
MIRT1463839	hsa-miR-4516	CLIP-seq
MIRT1463840	hsa-miR-4537	CLIP-seq
MIRT1463841	hsa-miR-455-3p	CLIP-seq
MIRT1463842	hsa-miR-4688	CLIP-seq
MIRT1463843	hsa-miR-4693-5p	CLIP-seq
MIRT1463844	hsa-miR-4697-3p	CLIP-seq
MIRT1463845	hsa-miR-4717-5p	CLIP-seq
MIRT1463846	hsa-miR-4725-3p	CLIP-seq
MIRT1463847	hsa-miR-4728-5p	CLIP-seq
MIRT1463848	hsa-miR-4739	CLIP-seq
MIRT1463849	hsa-miR-4747-5p	CLIP-seq
MIRT1463850	hsa-miR-4756-3p	CLIP-seq
MIRT1463851	hsa-miR-4756-5p	CLIP-seq
MIRT1463852	hsa-miR-4763-3p	CLIP-seq
MIRT1463853	hsa-miR-4766-5p	CLIP-seq
MIRT1463854	hsa-miR-491-5p	CLIP-seq
MIRT1463855	hsa-miR-507	CLIP-seq
MIRT1463856	hsa-miR-520g	CLIP-seq
MIRT1463857	hsa-miR-520h	CLIP-seq
MIRT1463858	hsa-miR-541	CLIP-seq
MIRT1463859	hsa-miR-550a	CLIP-seq
MIRT1463860	hsa-miR-552	CLIP-seq
MIRT1463861	hsa-miR-557	CLIP-seq
MIRT1463862	hsa-miR-599	CLIP-seq
MIRT1463863	hsa-miR-605	CLIP-seq
MIRT1463864	hsa-miR-632	CLIP-seq
MIRT1463865	hsa-miR-767-3p	CLIP-seq
MIRT1463866	hsa-miR-939	CLIP-seq
MIRT1555253	hsa-miR-214	CLIP-seq
MIRT1555254	hsa-miR-3199	CLIP-seq
MIRT1555255	hsa-miR-3619-5p	CLIP-seq
MIRT1555256	hsa-miR-3655	CLIP-seq
MIRT1555257	hsa-miR-3665	CLIP-seq
MIRT1555258	hsa-miR-4530	CLIP-seq
MIRT1555259	hsa-miR-4648	CLIP-seq
MIRT1555260	hsa-miR-761	CLIP-seq
MIRT1923058	hsa-miR-3129-3p	CLIP-seq
MIRT1555254	hsa-miR-3199	CLIP-seq
MIRT1463803	hsa-miR-1910	CLIP-seq
MIRT2139455	hsa-miR-3136-5p	CLIP-seq
MIRT1463817	hsa-miR-3179	CLIP-seq
MIRT1463819	hsa-miR-3202	CLIP-seq
MIRT1463830	hsa-miR-4271	CLIP-seq
MIRT2139456	hsa-miR-4439	CLIP-seq
MIRT2139457	hsa-miR-4513	CLIP-seq
MIRT1463841	hsa-miR-455-3p	CLIP-seq
MIRT1463846	hsa-miR-4725-3p	CLIP-seq
MIRT1463849	hsa-miR-4747-5p	CLIP-seq
MIRT2360133	hsa-miR-1294	CLIP-seq
MIRT1463799	hsa-miR-1321	CLIP-seq
MIRT1463810	hsa-miR-3126-5p	CLIP-seq
MIRT2360134	hsa-miR-3612	CLIP-seq
MIRT2360135	hsa-miR-4316	CLIP-seq
MIRT1463832	hsa-miR-4419a	CLIP-seq
MIRT1463838	hsa-miR-4510	CLIP-seq
MIRT2360136	hsa-miR-4677-3p	CLIP-seq
MIRT1463848	hsa-miR-4739	CLIP-seq
MIRT1463851	hsa-miR-4756-5p	CLIP-seq
MIRT1463858	hsa-miR-541	CLIP-seq
MIRT2360137	hsa-miR-650	CLIP-seq
MIRT2653424	hsa-miR-1914	CLIP-seq
MIRT2653425	hsa-miR-1976	CLIP-seq
MIRT2653426	hsa-miR-200b	CLIP-seq
MIRT2653427	hsa-miR-200c	CLIP-seq
MIRT2653428	hsa-miR-218	CLIP-seq
MIRT2653429	hsa-miR-2277-5p	CLIP-seq
MIRT2653430	hsa-miR-3064-3p	CLIP-seq
MIRT2653431	hsa-miR-3064-5p	CLIP-seq
MIRT1463811	hsa-miR-3127-5p	CLIP-seq
MIRT1923058	hsa-miR-3129-3p	CLIP-seq
MIRT2653432	hsa-miR-3148	CLIP-seq
MIRT2653433	hsa-miR-3160-5p	CLIP-seq
MIRT2653434	hsa-miR-3161	CLIP-seq
MIRT2653435	hsa-miR-339-5p	CLIP-seq
MIRT1463821	hsa-miR-346	CLIP-seq
MIRT2653436	hsa-miR-3650	CLIP-seq
MIRT1463825	hsa-miR-3934	CLIP-seq
MIRT1463828	hsa-miR-4268	CLIP-seq
MIRT2653437	hsa-miR-4287	CLIP-seq
MIRT1463831	hsa-miR-4288	CLIP-seq
MIRT2653438	hsa-miR-429	CLIP-seq
MIRT2653439	hsa-miR-4455	CLIP-seq
MIRT2653440	hsa-miR-4469	CLIP-seq
MIRT2653441	hsa-miR-4479	CLIP-seq
MIRT2653442	hsa-miR-4519	CLIP-seq
MIRT1555258	hsa-miR-4530	CLIP-seq
MIRT2653443	hsa-miR-4640-5p	CLIP-seq
MIRT2653444	hsa-miR-4685-3p	CLIP-seq
MIRT2653445	hsa-miR-4693-3p	CLIP-seq
MIRT2653446	hsa-miR-4694-3p	CLIP-seq
MIRT2653447	hsa-miR-4715-3p	CLIP-seq
MIRT2653448	hsa-miR-4722-3p	CLIP-seq
MIRT2653449	hsa-miR-4726-5p	CLIP-seq
MIRT2653450	hsa-miR-4769-3p	CLIP-seq
MIRT2653451	hsa-miR-490-3p	CLIP-seq
MIRT2653452	hsa-miR-491-3p	CLIP-seq
MIRT1463855	hsa-miR-507	CLIP-seq
MIRT2653453	hsa-miR-518d-5p	CLIP-seq
MIRT2653454	hsa-miR-519b-5p	CLIP-seq
MIRT2653455	hsa-miR-519c-5p	CLIP-seq
MIRT2653456	hsa-miR-520c-5p	CLIP-seq
MIRT1463856	hsa-miR-520g	CLIP-seq
MIRT1463857	hsa-miR-520h	CLIP-seq
MIRT2653457	hsa-miR-522	CLIP-seq
MIRT2653458	hsa-miR-526a	CLIP-seq
MIRT1463860	hsa-miR-552	CLIP-seq
MIRT1463861	hsa-miR-557	CLIP-seq
MIRT2653459	hsa-miR-602	CLIP-seq
MIRT2653460	hsa-miR-619	CLIP-seq
MIRT1463864	hsa-miR-632	CLIP-seq
MIRT2653461	hsa-miR-636	CLIP-seq
MIRT2653462	hsa-miR-654-3p	CLIP-seq
MIRT2653463	hsa-miR-875-3p	CLIP-seq
MIRT2694497	hsa-miR-1229	CLIP-seq
MIRT2653424	hsa-miR-1914	CLIP-seq
MIRT2653426	hsa-miR-200b	CLIP-seq
MIRT2653427	hsa-miR-200c	CLIP-seq
MIRT2694498	hsa-miR-203	CLIP-seq
MIRT2653428	hsa-miR-218	CLIP-seq
MIRT2653429	hsa-miR-2277-5p	CLIP-seq
MIRT2653430	hsa-miR-3064-3p	CLIP-seq
MIRT2653431	hsa-miR-3064-5p	CLIP-seq
MIRT1923058	hsa-miR-3129-3p	CLIP-seq
MIRT2653432	hsa-miR-3148	CLIP-seq
MIRT2694499	hsa-miR-3157-5p	CLIP-seq
MIRT2653433	hsa-miR-3160-5p	CLIP-seq
MIRT2694500	hsa-miR-320e	CLIP-seq
MIRT2653435	hsa-miR-339-5p	CLIP-seq
MIRT1463821	hsa-miR-346	CLIP-seq
MIRT2694501	hsa-miR-3646	CLIP-seq
MIRT2653436	hsa-miR-3650	CLIP-seq
MIRT2694502	hsa-miR-3691-3p	CLIP-seq
MIRT1463825	hsa-miR-3934	CLIP-seq
MIRT1463828	hsa-miR-4268	CLIP-seq
MIRT2653437	hsa-miR-4287	CLIP-seq
MIRT1463831	hsa-miR-4288	CLIP-seq
MIRT2653438	hsa-miR-429	CLIP-seq
MIRT2653440	hsa-miR-4469	CLIP-seq
MIRT2653441	hsa-miR-4479	CLIP-seq
MIRT2653442	hsa-miR-4519	CLIP-seq
MIRT1555258	hsa-miR-4530	CLIP-seq
MIRT2694503	hsa-miR-4639-5p	CLIP-seq
MIRT2653443	hsa-miR-4640-5p	CLIP-seq
MIRT2694504	hsa-miR-4679	CLIP-seq
MIRT2653444	hsa-miR-4685-3p	CLIP-seq
MIRT2653445	hsa-miR-4693-3p	CLIP-seq
MIRT2653446	hsa-miR-4694-3p	CLIP-seq
MIRT2653449	hsa-miR-4726-5p	CLIP-seq
MIRT2653450	hsa-miR-4769-3p	CLIP-seq
MIRT2653451	hsa-miR-490-3p	CLIP-seq
MIRT2653452	hsa-miR-491-3p	CLIP-seq
MIRT1463855	hsa-miR-507	CLIP-seq
MIRT2653453	hsa-miR-518d-5p	CLIP-seq
MIRT2653454	hsa-miR-519b-5p	CLIP-seq
MIRT2653455	hsa-miR-519c-5p	CLIP-seq
MIRT2653456	hsa-miR-520c-5p	CLIP-seq
MIRT1463856	hsa-miR-520g	CLIP-seq
MIRT1463857	hsa-miR-520h	CLIP-seq
MIRT2653457	hsa-miR-522	CLIP-seq
MIRT2653458	hsa-miR-526a	CLIP-seq
MIRT1463860	hsa-miR-552	CLIP-seq
MIRT1463861	hsa-miR-557	CLIP-seq
MIRT2653459	hsa-miR-602	CLIP-seq
MIRT2653460	hsa-miR-619	CLIP-seq
MIRT1463864	hsa-miR-632	CLIP-seq
MIRT2653461	hsa-miR-636	CLIP-seq
MIRT2653462	hsa-miR-654-3p	CLIP-seq
MIRT2653463	hsa-miR-875-3p	CLIP-seq

Show/Hide all (57)

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
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IDA	20889716
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11375483
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA	28154160
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	11375483
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IDA	20889716, 27932497, 28154160
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	11375483
GO:0007186	Process	G protein-coupled receptor signaling pathway	NAS	11375483
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007420	Process	Brain development	IEA
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	IDA	28154160
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	IDA	20889716
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	IEA
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	IMP	28154160
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	23382074
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0031076	Process	Embryonic camera-type eye development	IEA
GO:0035091	Function	Phosphatidylinositol binding	IDA	20889716
GO:0036064	Component	Ciliary basal body	IDA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044877	Function	Protein-containing complex binding	IDA	20889716
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IDA	20889716
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0048702	Process	Embryonic neurocranium morphogenesis	IEA
GO:0060173	Process	Limb development	IEA
GO:0060348	Process	Bone development	IEA
GO:0060434	Process	Bronchus morphogenesis	IEA
GO:0060831	Process	Smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:0061512	Process	Protein localization to cilium	IBA
GO:0061512	Process	Protein localization to cilium	IDA	28154160
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061512	Process	Protein localization to cilium	IGI	27727273
GO:0061512	Process	Protein localization to cilium	IMP	27727273, 28154160
GO:0061548	Process	Ganglion development	IEA
GO:0097546	Component	Ciliary base	IDA	20889716
GO:0097731	Component	9+0 non-motile cilium	IDA	20889716
GO:0120160	Function	Intraciliary transport particle A binding	IDA	20889716, 27932497, 28154160

MIM	HGNC	e!Ensembl
604730	12425	ENSG00000078246

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

MEASRCRLSPSGDSVFHEEMMKMRQAKLDYQRLLLEKRQRKKRLEPFMVQPNPEARLRRA
KPRASDEQTPLVNCHTPHSNVILHGIDGPAAVLKPDEVHAPSVSSSVVEEDAENTVDTAS
KPGLQERLQKHDISESVNFDEETDGISQSACLERPNSASSQNSTDTGTSGSATAAQPADN
LLGDIDDLEDFVYSPAPQGVTVRCRIIRDKRGMDRGLFPTYYMYLEKEENQKIFLLAARK
RKKSKTANYLISIDPVDLSREGESYVGKLRSNLMGTKFTVYDRGICPMKGRGLVGAAHTR
QELAAISYETNVLGFKGPRKMSVIIPGMTLNHKQIPYQPQNNHDSLLSRWQNRTMENLVE
LHNKAPVWNSDTQSYVLNFRGRVTQASVKNFQIVHKNDPDYIVMQFGRVADDVFTLDYNY
PLCAVQAFGIGLSSFDSKLACE

Sequence length

442

Interactions

View interactions

	Reactome
			Hedgehog 'off' state

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hepatorenocardiac degenerative fibrosis	Pathogenic	rs202037575, rs201665307, rs924744512, rs761172007, rs760523025, rs2536387265	RCV002250450 RCV002250451 RCV002250452 RCV002250453 RCV002259541 RCV003153068	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Aortic Aneurysm Abdominal	Associate	31868202	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Associate	30640939	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Associate	30640939	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Stimulate	30640939	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	33187986	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Associate	21310917	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Associate	32728162	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Associate	33187986	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Associate	30640939	★★★★★ ★☆☆☆☆ Found in Text Mining only

TULP3 (TUB like protein 3)