IFT43 - intraflagellar transport 43 Gene

Homo sapiens

Also known as CED3; RP81; SRTD18; C14orf179

Gene ID: 112752 | Gene type: protein coding

About IFT43

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:75,985,763-76,084,073 (from NCBI)

This gene has 13 transcripts (splice variants), 179 orthologues and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 8.4), thyroid (RPKM 6.9) and 25 other tissues.

Summary

This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

IFT43 Products(3)

mRNA	Protein	Name
NM_001102564.3	NP_001096034.1	intraflagellar transport protein 43 homolog isoform 2
NM_001255995.3	NP_001242924.1	intraflagellar transport protein 43 homolog isoform 3
NM_052873.3	NP_443105.2	intraflagellar transport protein 43 homolog isoform 1

IFT43 Protein Structure

IFT43

0
100
208 a.a.

Protein Preferred Names

Protein Names

intraflagellar transport protein 43 homolog

IFT complex A subunit

Related Diseases

Diseases

Alias

Short-Rib Thoracic Dysplasia 18 With Polydactyly

SRTD18

Cranioectodermal Dysplasia 3

CED3	Sensenbrenner Syndrome 3
Dysplasia, Cranioectodermal, Type 3

Retinitis Pigmentosa 81

RP81	Retinitis Pigmentosa, Type 81

Cranioectodermal Dysplasia

Sensenbrenner Syndrome	Levin Syndrome 1
Ced	Levin Syndrome
Dysplasia, Cranioectodermal

Short Rib-Polydactyly Syndrome

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

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

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

Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly

Conorenal Syndrome	Saldino-Mainzer Syndrome
SRTD9	Mainzer-Saldino Syndrome
Mzsds	Mainzer-Saldino Disease
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia	Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dysplasia
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dy	Mainzer Saldino Syndrome
Conorenal Dysplasia	Mainzer-Saldino Chondrodysplasia
Saldino-Mainzer Dysplasia	Short-Rib Thoracic Dysplasia 9
Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome	Mss
Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia And Skeletal Dysplasia

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

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 5	SRTD5
Atd5	Jatd
Jeune Asphyxiating Thoracic Dystrophy	Jeune Syndrome 5

Brachydactyly

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Joubert Syndrome 17

JBTS17

Joubert Syndrome, Type 17

Filarial Elephantiasis

Lymphatic Filariasis	Elephantiasis
Filariasis	Bancroftian Elephantiasis
Bancroftian Filarial Chyluria	Elephantiasis Of Eyelid
Bancroftian Filariasis	Elephantitis
Malayi Tropical Eosinphilia	Wuchereria Bancrofti Infection
Wuchereriasis	Elephantiasis, Filarial
Filarial Elephantiases	Infection By Wuchereria Bancrofti
Filarial Lymphangitis	Tropical Elephantiasis
Filarial Chylocele

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

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet 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

Acrofacial Dysostosis

Retinal Degeneration

Degeneration Of Retina

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

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

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

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

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

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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-RS06605	IFT43 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	IFT43	VGNC	VGNC:104406
Bos taurus	IFT43	VGNC	VGNC:30068
Rattus norvegicus	IFT43	RGD	RGD:1307392
Canis familiaris	IFT43	VGNC	VGNC:41886
Macaca mulatta	IFT43	VGNC	VGNC:84354
Mus musculus	IFT43	MGD	MGI:1923661

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