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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9786
Gene name Gene Name - the full gene name approved by the HGNC.	KIAA0586
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KIAA0586
Synonyms (NCBI Gene) Gene synonyms aliases	JBTS23, SRTD14, Talpid3
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q23.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Joubert Syndrome	joubert syndrome 23, Joubert syndrome and related disorders	rs534542684, rs863225203, rs540255320, rs1595050325, rs757350052, rs886039809, rs901508284, rs796052128, rs770566897, rs1057516038, rs796052129, rs985118235, rs867342730, rs201097695, rs555421894, rs869312856 View all (1 more)	N/A
Short-Rib Thoracic Dysplasia With Or Without Polydactyly	short-rib thoracic dysplasia 14 with polydactyly	rs745949846, rs797045119, rs762081862	N/A
Cerebellar vermis agenesis	familial aplasia of the vermis	rs534542684	N/A
Jeune Thoracic Dystrophy	jeune thoracic dystrophy	rs1566883760	N/A
Meckel-Gruber Syndrome	meckel-gruber syndrome	rs886039806	N/A
retinal dystrophy	Retinal dystrophy	rs534542684, rs555421894	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
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.
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)