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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9786
Gene name	KIAA0586
Gene symbol	KIAA0586
Synonyms (NCBI Gene)	JBTS23SRTD14Talpid3
Chromosome	14
Chromosome location	14q23.1
Summary	This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [pro

Show/Hide all (29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140026883	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs143158234	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201097695	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs372841738	A>C	Likely-pathogenic	Intron variant
rs534542684	G>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs540255320	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs757350052	G>C	Pathogenic	Splice acceptor variant, missense variant, coding sequence variant
rs762081862	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs770566897	AA>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs772739103	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs780520735	C>G,T	Pathogenic	Coding sequence variant, synonymous variant
rs796052128	C>T	Pathogenic	Stop gained, coding sequence variant
rs796052129	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs863225203	TATCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs867342730	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs869312856	AGCT>GA	Pathogenic	Coding sequence variant, frameshift variant
rs886039806	T>A,C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs886039809	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs985118235	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057516038	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1064793157	C>T	Pathogenic	Coding sequence variant, stop gained
rs1203751352	->A	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1331480187	T>C	Likely-pathogenic	Splice donor variant
rs1410766981	TGTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555378721	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566827747	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1566883760	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1566903524	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1595428826	T>G	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all (56)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036916	hsa-miR-877-3p	CLASH	23622248
MIRT643705	hsa-miR-4463	HITS-CLIP	23824327
MIRT643696	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT643704	hsa-miR-6890-5p	HITS-CLIP	23824327
MIRT643703	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT643702	hsa-miR-4494	HITS-CLIP	23824327
MIRT643701	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT643700	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT643699	hsa-miR-1273f	HITS-CLIP	23824327
MIRT643698	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT643697	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT643696	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT643695	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT643694	hsa-miR-548s	HITS-CLIP	23824327
MIRT643693	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT643692	hsa-miR-588	HITS-CLIP	23824327
MIRT643691	hsa-miR-4435	HITS-CLIP	23824327
MIRT643690	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT643689	hsa-miR-3170	HITS-CLIP	23824327
MIRT643688	hsa-miR-6855-5p	HITS-CLIP	23824327
MIRT643687	hsa-miR-5096	HITS-CLIP	23824327
MIRT643705	hsa-miR-4463	HITS-CLIP	23824327
MIRT643696	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT643704	hsa-miR-6890-5p	HITS-CLIP	23824327
MIRT643703	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT643702	hsa-miR-4494	HITS-CLIP	23824327
MIRT643701	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT643700	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT643699	hsa-miR-1273f	HITS-CLIP	23824327
MIRT643698	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT643697	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT643696	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT643695	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT643694	hsa-miR-548s	HITS-CLIP	23824327
MIRT643693	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT643692	hsa-miR-588	HITS-CLIP	23824327
MIRT643691	hsa-miR-4435	HITS-CLIP	23824327
MIRT643690	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT643689	hsa-miR-3170	HITS-CLIP	23824327
MIRT643688	hsa-miR-6855-5p	HITS-CLIP	23824327
MIRT643687	hsa-miR-5096	HITS-CLIP	23824327
MIRT1087821	hsa-miR-3140-3p	CLIP-seq
MIRT1087822	hsa-miR-3673	CLIP-seq
MIRT1087823	hsa-miR-369-3p	CLIP-seq
MIRT1087824	hsa-miR-374a	CLIP-seq
MIRT1087825	hsa-miR-374b	CLIP-seq
MIRT1087826	hsa-miR-410	CLIP-seq
MIRT1087827	hsa-miR-4699-3p	CLIP-seq
MIRT1087824	hsa-miR-374a	CLIP-seq
MIRT1087825	hsa-miR-374b	CLIP-seq
MIRT1087824	hsa-miR-374a	CLIP-seq
MIRT1087825	hsa-miR-374b	CLIP-seq
MIRT2254133	hsa-miR-4286	CLIP-seq
MIRT2254134	hsa-miR-4452	CLIP-seq
MIRT2254135	hsa-miR-4691-5p	CLIP-seq
MIRT2254136	hsa-miR-548aa	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005515	Function	Protein binding	IPI	24421332
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	19144723, 21399614, 24421332
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	24421332
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IMP	24421332
GO:0060271	Process	Cilium assembly	ISS
GO:0070201	Process	Regulation of establishment of protein localization	IMP	24421332

MIM	HGNC	e!Ensembl
610178	19960	ENSG00000100578

Q9BVV6

Protein name

Protein TALPID3

Protein function

Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disa

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15324	TALPID3	101 → 1342	Hedgehog signalling target	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:26386044). Expressed in photoreceptor cells (at protein level) (PubMed:26386247). {ECO:0000269|PubMed:26386044, ECO:0000269|PubMed:26386247}.

Sequence

MPVKRLREVVSQNHGDHLVLLKDELPCVPPALSANKRLPVGTGTSLNGTSRGSSDLTSAR
NCYQPLLENPMVSESDFSKDVAVQVLPLDKIEENNKQKANDIFISQYTMGQKDALRTVLK
QKAQSMPVFKEVKVHLLEDAGIEKDAVTQETRISPSGIDSATTVAAATAAAIATAAPLIK
VQSDLEAKVNSVTELLSKLQETDKHLQRVTEQQTSIQRKQEKLHCHDHEKQMNVFMEQHI
RHLEKLQQQQIDIQTHFISAALKTSSFQPVSMPSSRAVEKYSVKPEHPNLGSCNPSLYNT
FASKQAPLKEVEDTSFDKQKSPLETPAPRRFAPVPVSRDDELSKRENLLEEKENMEVSCH
RGNVRLLEQILNNNDSLTRKSESSNTTSLTRSKIGWTPEKTNRFPSCEELETTKVTMQKS
DDVLHDLGQKEKETNSMVQPKESLSMLKLPDLPQNSVKLQTTNTTRSVLKDAEKILRGVQ
NNKKVLEENLEAIIRAKDGAAMYSLINALSTNREMSEKIRIRKTVDEWIKTISAEIQDEL
SRTDYEQKRFDQKNQRTKKGQNMTKDIRTNTQDKTVNKSVIPRKHSQKQIEEHFRNLPMR
GMPASSLQKERKEGLLKATTVIQDEDYMLQVYGKPVYQGHRSTLKKGPYLRFNSPSPKSR
PQRPKVIERVKGTKVKSIRTQTDFYATKPKKMDSKMKHSVPVLPHGDQQYLFSPSREMPT
FSGTLEGHLIPMAILLGQTQSNSDTMPPAGVIVSKPHPVTVTTSIPPSSRKVETGVKKPN
IAIVEMKSEKKDPPQLTVQVLPSVDIDSISNSSADVLSPLSSPKEASLPPVQTWIKTPEI
MKVDEEEVKFPGTNFDEIIDVIQEEEKCDEIPDSEPILEFNRSVKADSTKYNGPPFPPVA
STFQPTADILDKVIERKETLENSLIQWVEQEIMSRIISGLFPVQQQIAPSISVSVSETSE
PLTSDIVEGTSSGALQLFVDAGVPVNSNVIKHFVNEALAETIAVMLGDREAKKQGPVATG
VSGDASTNETYLPARVCTPLPTPQPTPPCSPSSPAKECVLVKTPDSSPCDSDHDMAFPVK
EICAEKGDDMPAIMLVNTPTVTPTTTPPPAAAVFTPTLSDISIDKLKVSSPELPKPWGDG
DLPLEEENPNSPQEELHPRAIVMSVAKDEEPESMDFPAQPPPPEPVPFMPFPAGTKAPSP
SQMPGSDSSTLESTLSVTVTETETLDKPISEGEILFSCGQKLAPKILEDIGLYLTNLNDS
LSSTLHDAVEMEDDPPSEGQVIRMSHKKFHADAILSFAKQNQESAVSQQAVYHSEDLENS
VGELSEGQRPQLTAAAENILMGHSLYMQPPVTNTQSLDQQCDPKPLSRQFDTVSGSIYED
SCASHGPMSLGELELEPNSKLVLPTTLLTAQENDVNLPVAAEDFSQYQLKQNQDVKQVEH
KPSQSYLRVRNKSDIAPSQQQVSPGDMDRTQIELNPYLTCVFSGGKAVPLSASQMPPAKM
SVMLPSVNLEDCSQSLSLSTMQEDMESSGADTF

Sequence length

1533

Interactions

View interactions

2538

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ciliopathy	Likely pathogenic	rs753649082	RCV006249746
Clear cell carcinoma of kidney	Likely pathogenic	rs763815640	RCV005925509
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs534542684, rs770566897	RCV001003979 RCV001003980
Intellectual disability	Likely pathogenic; Pathogenic	rs534542684, rs770566897	RCV001003979 RCV001003980
Jeune thoracic dystrophy	Likely pathogenic	rs1566883760	RCV000754956
Joubert syndrome	Likely pathogenic; Pathogenic	rs534542684, rs1174594143	RCV000612898 RCV004018288
Joubert syndrome 23	Likely pathogenic; Pathogenic	rs753649082, rs2140706563, rs2140844892, rs2140873534, rs2140886312, rs2140128017, rs1307758243, rs745949846, rs2040191088, rs762932867, rs2140886548, rs2140873364, rs2140098022, rs2141202895, rs982449380 View all (104 more)	RCV004820876 RCV001386576 RCV001380198 RCV001384838 RCV001382168 RCV001383129 RCV001882578 RCV002568892 RCV005215334 RCV003787327 RCV001814723 RCV001823451 RCV001870451 RCV001999879 RCV002049109 RCV001939177 RCV001949268 RCV001972654 RCV001953813 RCV001906886 RCV002018695 RCV002027614 RCV002037885 RCV002037920 RCV001894962 RCV001979561 RCV001960496 RCV001960503 RCV001904591 RCV001947018 RCV001883674 RCV002042120 RCV001972308 RCV001987098 RCV001983504 RCV002038452 RCV003101319 RCV003067780 RCV003078519 RCV003082774 RCV002588660 RCV003110896 RCV002512459 RCV002570315 RCV002576581 RCV002646454 RCV000186590 RCV000186591 RCV000186592 RCV000186593 RCV000186594 RCV002690504 RCV002731319 RCV002775584 RCV005222820 RCV001389448 RCV002820645 RCV002871042 RCV002833576 RCV002843843 RCV002868034 RCV002867620 RCV002996241 RCV000201703 RCV000201567 RCV000201780 RCV000201686 RCV003006373 RCV003046199 RCV003029236 RCV003026799 RCV003036178 RCV000985174 RCV003333341 RCV003340991 RCV003447455 RCV003785490 RCV003795784 RCV003783215 RCV003787111 RCV003787592 RCV003795302 RCV003798301 RCV003792460 RCV003808018 RCV003791078 RCV003791741 RCV003805690 RCV003797162 RCV003799280 RCV003794811 RCV003795111 RCV003800804 RCV003809029 RCV003817867 RCV003809500 RCV003801627 RCV003810026 RCV003805154 RCV004698892 RCV000408631 RCV002521677 RCV001851264 RCV003983092 RCV001215185 RCV000499394 RCV000705869 RCV000535889 RCV000697925 RCV000652573 RCV000685038 RCV000697398 RCV000695366 RCV001250539 RCV005232046 RCV001060062 RCV001196759 RCV001210014 RCV001201794 RCV001264820
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs749475936, rs2543334612, rs534542684, rs886039809, rs555421894, rs901508284	RCV003492698 RCV002308623 RCV001193558 RCV000256462 RCV003403202 RCV003479279
KIAA0586- Related disorders	Likely pathogenic; Pathogenic	rs534542684	RCV005250030
KIAA0586-related disorder	Likely pathogenic; Pathogenic	rs534542684, rs796052128, rs2140763302, rs2543152585, rs555421894	RCV003401022 RCV003401023 RCV003394418 RCV003412379 RCV003403203
Meckel-Gruber syndrome	Likely pathogenic	rs886039806	RCV000256428
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs770566897, rs555421894	RCV001778778 RCV001778987
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs745949846	RCV005623093
Retinal dystrophy	Likely pathogenic; Pathogenic	rs534542684, rs555421894	RCV001073225 RCV001074911
Rod-cone dystrophy	Likely pathogenic; Pathogenic	rs534542684, rs770566897	RCV001003979 RCV001003980
Short-rib thoracic dysplasia 14 with polydactyly	Likely pathogenic; Pathogenic	rs753649082, rs2140706563, rs2140844892, rs2140873534, rs2140886312, rs2140128017, rs1307758243, rs745949846, rs2040191088, rs762932867, rs2140098022, rs2141202895, rs982449380, rs1253807820, rs2140128191 View all (88 more)	RCV001333030 RCV001386576 RCV001380198 RCV001384838 RCV001382168 RCV001383129 RCV001882578 RCV002568892 RCV005215334 RCV003787327 RCV001870451 RCV001999879 RCV002049109 RCV001939177 RCV001949268 RCV001972654 RCV001953813 RCV001906886 RCV002018695 RCV002027614 RCV002037885 RCV002037920 RCV001894962 RCV001979561 RCV001960496 RCV001960503 RCV001904591 RCV001947018 RCV001883674 RCV002042120 RCV001972308 RCV001987098 RCV001983504 RCV002038452 RCV003101319 RCV003067780 RCV003078519 RCV003082774 RCV002588660 RCV003110896 RCV002512459 RCV002570315 RCV002576581 RCV002646454 RCV000652578 RCV000652577 RCV001852435 RCV002690504 RCV002731319 RCV002775584 RCV000190840 RCV000190841 RCV002820645 RCV002871042 RCV002833576 RCV002843843 RCV002868034 RCV002867620 RCV002996241 RCV001060061 RCV003006373 RCV003046199 RCV003029236 RCV003026799 RCV003036178 RCV003777408 RCV003785490 RCV003795784 RCV003783215 RCV003787111 RCV003787592 RCV003795302 RCV003798301 RCV003792460 RCV003808018 RCV003791078 RCV003791741 RCV003805690 RCV003797162 RCV003799280 RCV003794811 RCV003795111 RCV003800804 RCV003809029 RCV003817867 RCV003809500 RCV003801627 RCV003810026 RCV003805154 RCV002521677 RCV001851264 RCV001215185 RCV003766824 RCV000705869 RCV000535889 RCV000697925 RCV000652573 RCV000685038 RCV000697398 RCV000695366 RCV001250539 RCV001060062 RCV001210014 RCV001201794

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs3783697, rs144456198	RCV005897127 RCV005900351
Cholangiocarcinoma	Likely benign; Benign	rs146137598, rs3783697	RCV005917541 RCV005897132
Colon adenocarcinoma	Benign; Likely benign	rs3783697, rs59248588	RCV005897124 RCV005907225
Colorectal cancer	Benign	rs3783697	RCV005897129
Familial cancer of breast	Benign; Likely benign	rs147119902	RCV005897119
Gastric cancer	Benign; Likely benign	rs186659284, rs147119902, rs144456198	RCV005897117 RCV005897122 RCV005900354
Hepatocellular carcinoma	Benign; Likely benign	rs147119902, rs3783697, rs59248588	RCV005897120 RCV005897125 RCV005907226
Lung cancer	Benign	rs942623	RCV005919546
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs147119902, rs3783697, rs144456198	RCV005897121 RCV005897128 RCV005900353
Malignant tumor of esophagus	Benign	rs3783697	RCV005897126
Melanoma	Uncertain significance	rs771308299	RCV005925524
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs373882617, rs3783697, rs59248588	RCV005914469 RCV005897130 RCV005907227
Thymoma	Benign; Likely benign	rs186659284, rs3783697	RCV005897118 RCV005897131
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs147119902	RCV005897123
Uterine carcinosarcoma	Benign	rs942623	RCV005919545
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs3783697, rs59248588	RCV005897133 RCV005907228

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	26026149, 26096313, 29146704, 32381069, 36538006, 36635699, 36788019, 37131188
Apraxia oculomotor Cogan type	Associate	37131188
Bagatelle Cassidy syndrome	Associate	36538006
Cerebellar Diseases	Associate	36538006
Ciliopathies	Associate	26166481, 32080096, 36635699
Colorectal Neoplasms	Associate	35487942
Fetal Diseases	Associate	36538006
Hydrolethalus syndrome	Associate	26166481
Hypothalamic Neoplasms	Associate	32381069
Joubert syndrome 4	Associate	37131188
Lung Hyperlucent	Associate	32080096
Musculoskeletal Abnormalities	Associate	32080096
Orofaciodigital Syndromes	Associate	32080096
Polydactyly	Associate	26166481, 36538006
Respiratory Insufficiency	Associate	32080096
Short Rib Polydactyly Syndrome	Associate	26166481, 32080096, 36538006
Sudden Unexpected Death in Epilepsy	Associate	32381069
Urinary Incontinence Stress	Associate	27193112

KIAA0586 (KIAA0586)