2. Gene
  3. KIAA0586 - KIAA0586 Gene

KIAA0586 - KIAA0586 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as JBTS23; SRTD14; Talpid3

Gene ID: 9786 | Gene type: protein coding

About KIAA0586

Cytogenetic location: 14q23.1 Genomic coordinates (GRCh38): 14:58,427,400-58,562,090 (from NCBI)

This gene has 26 transcripts (splice variants), 164 orthologues and is associated with 6 phenotypes. Broad expression in testis (RPKM 10.0), lymph node (RPKM 2.9) and 24 other tissues.

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. [provided by RefSeq, Aug 2016]

KIAA0586 Products(13)

mRNA Protein Name
NM_001244189.2 NP_001231118.1 protein TALPID3 isoform 1
NM_001244190.2 NP_001231119.1 protein TALPID3 isoform 2
NM_001244191.2 NP_001231120.1 protein TALPID3 isoform 3
NM_001244192.2 NP_001231121.1 protein TALPID3 isoform 4
NM_001244193.2 NP_001231122.1 protein TALPID3 isoform 6
NM_001329943.3 NP_001316872.1 protein TALPID3 isoform 7
NM_001329944.2 NP_001316873.1 protein TALPID3 isoform 8
NM_001329945.2 NP_001316874.1 protein TALPID3 isoform 9
NM_001329946.2 NP_001316875.1 protein TALPID3 isoform 10
NM_001329947.2 NP_001316876.1 protein TALPID3 isoform 11
NM_001364700.1 NP_001351629.1 protein TALPID3 isoform 12
NM_001364701.2 NP_001351630.1 protein TALPID3 isoform 3
NM_014749.5 NP_055564.3 protein TALPID3 isoform 5
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
24421332 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within cilium assembly IMP
IMP: Inferred from mutant phenotype
24421332 GOA
acts upstream of or within regulation of establishment of protein localization IMP
IMP: Inferred from mutant phenotype
24421332 GOA
Cellular Component GO Annotation Evidence Reference Source
located in centrosome IDA
IDA: Inferred from direct assay
19144723 GOA
located in ciliary basal body IDA
IDA: Inferred from direct assay
24421332 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KIAA0586 Protein Structure

TALPID3

TALPID3: Hedgehog signalling target (190 - 1411)

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  • 1644 a.a.
Protein Preferred Names Protein Names

protein TALPID3

KIAA0586 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
KIAA0586 Q9BVV6 CCP110 Homo sapiens O43303
Anti Bait CoIP
24421332
Intra
KIAA0586 Q9BVV6 CCP110 Homo sapiens O43303
Anti Tag CoIP
24421332
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Joubert Syndrome 23

JBTS23

Joubert Syndrome, Type 23
Short-Rib Thoracic Dysplasia 14 With Polydactyly

SRTD14
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy

Jbts With Jatd

Joubert Syndrome With Jatd
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy

Jeune Syndrome

Asphyxiating Thoracic Dysplasia

Short-Rib Thoracic Dysplasia With Or Without Polydactyly

Thoracic Pelvic Phalangeal Dystrophy

Asphyxiating Thoracic Chondrodystrophy

Atd

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune Thoracic Dysplasia

Thoracic Asphyxiant Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Short-Rib Thoracic Dysplasia Without Polydactyly

Asphyxiating Thoracic Dystrophy Of The Newborn

Asphyxiating Thorax Dystrophy
Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1

Jeune Syndrome

SRTD1

Atd1

Asphyxiating Thoracic Dystrophy Of The Newborn

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Atd

Asphyxiating Thoracic Dystrophy

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune'S Syndrome

Thoracic Pelvic Phalangeal Dystrophy

Jeune Thoracic Dystrophy
Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits
Ellis-Van Creveld Syndrome

Chondroectodermal Dysplasia

Mesoectodermal Dysplasia

EVC

Ellis Van Creveld Syndrome

Mesodermic Dysplasia

Ellis-Van Creveld Dysplasia
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 3

Saldino-Noonan Syndrome

SRTD3

Atd3

Srps1

Srps3

Verma-Naumoff Syndrome

Srps2b

Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

Short Rib-Polydactyly Syndrome, Type I

Polydactyly With Neonatal Chondrodystrophy, Type I

Polydactyly With Neonatal Chondrodystrophy, Type Iii

Short Rib-Polydactyly Syndrome, Type Iib

Short Rib-Polydactyly Syndrome Type 3

Polydactyly With Neonatal Chondrodystrophy Type Iii

Short Rib-Polydactyly Syndrome Type Iii

Short Rib-Polydactyly Syndrome Type 1

Short Rib-Polydactyly Syndrome, Saldino-Noonan Type

Majewski Syndrome

Short Rib-Polydactyly Syndrome, Type Iii

Type I Short Rib Polydactyly Syndrome

Srps Type 3

Short Rib Polydactyly Syndrome Verma Naumoff Type

Verma Naumoff Syndrome

Polydactyly With Neonatal Chondrodystrophy Type 1

Srps Type 1

Short Rib-Polydactyly Syndrome Saldino-Noonan Type

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Jeune Syndrome 3

Polydactyly With Neonatal Chondrodystrophy Type I

Short Rib-Polydactyly Syndrome Type I

Short Rib-Polydactyly Syndrome Type Iib

Srps Type Iib

Srps Type Iii
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Endocrine-Cerebroosteodysplasia

Endocrine-Cerebro-Osteodysplasia Syndrome

ECO

Eco Syndrome
Fraser Syndrome 2

FRASRS2
Orofaciodigital Syndrome

Oral-Facial-Digital Syndrome

Orofaciodigital Syndromes

Ofd

Oral Facial Digital Syndromes

Oral-Facial-Digital Syndromes

Dysplasia Linguofacialis

Ofds

Oro-Facio-Digital Syndrome

Orodigitofacial Dysostosis

Orodigitofacial Syndrome

Oral Facial Digital Syndrome

Orofaciodigital Syndrome I
Cranioectodermal Dysplasia

Sensenbrenner Syndrome

Levin Syndrome 1

Ced

Levin Syndrome

Dysplasia, Cranioectodermal
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Majewski Syndrome

SRTD6

Srps2a

Short Rib-Polydactyly Syndrome, Majewski Type

Polydactyly With Neonatal Chondrodystrophy, Type Ii

Short Rib-Polydactyly Syndrome Type Iia

Short Rib-Polydactyly Syndrome Type 2

Short Rib-Polydactyly Syndrome Type Ii

Short Rib-Polydactyly Syndrome, Type Ii

Srps, Type Ii

Short Rib-Polydactyly Syndrome, Type Iia

Polydactyly With Neonatal Chondrodystrophy Type 2

Srps Type 2

Short Rib-Polydactyly Syndrome Majewski Type

Polydactyly With Neonatal Chondrodystrophy Type Ii

Short Rib-Polydactyly Syndrome 2a

Srps Type Ii
Weyers Acrofacial Dysostosis

Curry-Hall Syndrome

Weyers Acrodental Dysostosis

WAD

Acrodental Dysostosis Of Weyers

Acrofacial Dysostosis, Weyers Type

Acrofacial Dysostosis Of Weyers

Curry Hall Syndrome
Acrocallosal Syndrome

ACLS

Schinzel Acrocallosal Syndrome

Joubert Syndrome 12

Schinzel Syndrome 1

Acrocallosal Syndrome, Schinzel Type

Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum

Acs

Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly

Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum

JBTS12

Acrocallosal Syndrome

Short-Rib Thoracic Dysplasia 12

Beemer-Langer Syndrome

Type Iv Short Rib Polydactyly Syndrome

Short Rib-Polydactyly Syndrome Type 4

Short Rib-Polydactyly Syndrome, Beemer Type

SRTD12

Short Rib-Polydactyly Syndrome, Type Iv

Srps4

Srps Iv

Short Rib Syndrome, Beemer Type

Beemer Langer Syndrome

Srps Type 4

Short Rib Polydactyly Syndrome Beemer-Langer Type

Short Rib-Polydactyly Syndrome Beemer Type

Short Rib-Polydactyly Syndrome Type Iv

Short Rib-Polydactyly Syndrome, Beemer-Langer Type
Joubert Syndrome 3

JBTS3

Joubert Syndrome With Ocular Defect

Joubert Syndrome With Ocular Anomalies

Js-O

Joubert Syndrome With Retinopathy

Joubert Syndrome-3

Joubert Syndrome, Type 3
Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma
Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07247 KIAA0586 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus KIAA0586 RGD RGD:1585176
Mus musculus KIAA0586 MGD MGI:1924217
Macaca mulatta KIAA0586 VGNC VGNC:73865
Bos taurus KIAA0586 VGNC VGNC:30554
Canis familiaris KIAA0586 VGNC VGNC:42349
Felis catus KIAA0586 VGNC VGNC:63085