IFT20 - intraflagellar transport 20 Gene

Homo sapiens

Gene ID: 90410 | Gene type: protein coding

About IFT20

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,328,326-28,335,472 (from NCBI)

This gene has 16 transcripts (splice variants) and 225 orthologues. Broad expression in testis (RPKM 51.9), liver (RPKM 45.8) and 25 other tissues.

Summary

This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 14.[provided by RefSeq, Jun 2012]

IFT20 Products(6)

mRNA	Protein	Name
NM_001267774.2	NP_001254703.1	intraflagellar transport protein 20 homolog isoform 1
NM_001267775.2	NP_001254704.1	intraflagellar transport protein 20 homolog isoform 3
NM_001267776.2	NP_001254705.1	intraflagellar transport protein 20 homolog isoform 3
NM_001267777.2	NP_001254706.1	intraflagellar transport protein 20 homolog isoform 4
NM_001267778.2	NP_001254707.1	intraflagellar transport protein 20 homolog isoform 5
NM_174887.4	NP_777547.1	intraflagellar transport protein 20 homolog isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	26021297	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	16775004	GOA
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	17646400	GOA
involved in positive regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	17604723	GOA
acts upstream of or within protein localization to Golgi apparatus	IMP IMP: Inferred from mutant phenotype	23530209	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in centrosome	IDA IDA: Inferred from direct assay	16775004	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	17604723	GOA
located in ciliary base	IDA IDA: Inferred from direct assay	31637240	GOA
located in cis-Golgi network	IDA IDA: Inferred from direct assay	24648492	GOA
part of intraciliary transport particle B	IPI IPI: Inferred from physical interaction	26980730	GOA
located in photoreceptor connecting cilium	IDA IDA: Inferred from direct assay	31637240	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

IFT20 Protein Structure

IFT20

0
100
132 a.a.

Protein Preferred Names

Protein Names

intraflagellar transport protein 20 homolog

intraflagellar transport 20 homolog

IFT20 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	IFT20	Q8IY31	KRT13	Homo sapiens	A1A4E9	Y2H Array	25416956
Intra	IFT20	Q8IY31	KRT13	Homo sapiens	A1A4E9	Y2H Prey Pooling	25416956
Intra	IFT20	Q8IY31	KRT13	Homo sapiens	A1A4E9	Validated Y2H	25416956
Intra	IFT20	Q8IY31	HAUS1	Homo sapiens	Q96CS2	Y2H Array	25416956
Intra	IFT20	Q8IY31	HAUS1	Homo sapiens	Q96CS2	Anti Tag CoIP	33961781
Intra	IFT20	Q8IY31	CROCCP2	Homo sapiens	Q86T23	Validated Y2H	25416956
Intra	IFT20	Q8IY31	CROCCP2	Homo sapiens	Q86T23	Y2H Array	25416956
Intra	IFT20	Q8IY31	CROCCP2	Homo sapiens	Q86T23	Y2H Prey Pooling	25416956
Intra	IFT20	Q8IY31	NUP62	Homo sapiens	P37198	Y2H Array	25416956
Intra	IFT20	Q8IY31	NUP62	Homo sapiens	P37198	Validated Y2H	25416956
Intra	IFT20	Q8IY31	PSMA1	Homo sapiens	P25786	Validated Y2H	25416956
Intra	IFT20	Q8IY31	PSMA1	Homo sapiens	P25786	Y2H Array	25416956
Intra	IFT20	Q8IY31	PSMA1	Homo sapiens	P25786	Y2H Prey Pooling	25416956
Intra	IFT20	Q8IY31	MED4	Homo sapiens	Q9NPJ6	Anti Tag CoIP	33961781
Intra	IFT20	Q8IY31	DTNBP1	Homo sapiens	Q96EV8	Validated Y2H	25416956
Intra	IFT20	Q8IY31	DTNBP1	Homo sapiens	Q96EV8	Y2H Array	25416956
Intra	IFT20	Q8IY31	FSD2	Homo sapiens	A1L4K1	Y2H Array	25416956
Intra	IFT20	Q8IY31	FSD2	Homo sapiens	A1L4K1	Y2H Prey Pooling	25416956
Intra	IFT20	Q8IY31	GOLGA2	Homo sapiens	Q08379	Validated Y2H	25416956
Intra	IFT20	Q8IY31	WASHC3	Homo sapiens	Q9Y3C0	Y2H Array	25416956
Intra	IFT20	Q8IY31	WASHC3	Homo sapiens	Q9Y3C0	Y2H Array	31515488
Intra	IFT20	Q8IY31	NDC80	Homo sapiens	O14777	Y2H Prey Pooling	25416956
Intra	IFT20	Q8IY31	NDC80	Homo sapiens	O14777	Y2H Array	25416956
Intra	IFT20	Q8IY31	EXOC7	Homo sapiens	Q9UPT5	Validated Y2H	25416956
Intra	IFT20	Q8IY31	EXOC7	Homo sapiens	Q9UPT5	Anti Tag CoIP	33961781
Intra	IFT20	Q8IY31	KXD1	Homo sapiens	Q9BQD3	Y2H Prey Pooling	25416956
Intra	IFT20	Q8IY31	KXD1	Homo sapiens	Q9BQD3	Pull Down	16189514
Intra	IFT20	Q8IY31	USHBP1	Homo sapiens	Q8N6Y0	Validated Y2H	25416956
Intra	IFT20	Q8IY31	NUP54	Homo sapiens	Q7Z3B4	Y2H Array	25416956
Intra	IFT20	Q8IY31	NUP54	Homo sapiens	Q7Z3B4	Y2H Prey Pooling	25416956
Intra	IFT20	Q8IY31	ABI2	Homo sapiens	Q9NYB9	Validated Y2H	25416956
Intra	IFT20	Q8IY31	ABI2	Homo sapiens	Q9NYB9	Y2H Array	25416956
Intra	IFT20	Q8IY31	ABI2	Homo sapiens	Q9NYB9	Y2H Prey Pooling	25416956
Intra	IFT20	Q8IY31	ABI2	Homo sapiens	Q9NYB9	Y2H Array	29892012
Intra	IFT20	Q8IY31	EMILIN1	Homo sapiens	Q9Y6C2	Validated Y2H	25416956
Intra	IFT20	Q8IY31	EMILIN1	Homo sapiens	Q9Y6C2	Y2H Array	25416956
Intra	IFT20	Q8IY31	EMILIN1	Homo sapiens	Q9Y6C2	Y2H Prey Pooling	25416956
Intra	IFT20	Q8IY31	EMILIN1	Homo sapiens	Q9Y6C2	MAPPIT	25416956
Intra	IFT20	Q8IY31	DEUP1	Homo sapiens	Q05D60	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Achondrogenesis

Achondrogenesis Syndrome

Achondroplasia

Achondroplastic Dwarfism	ACH
Osteosclerosis Congenita	Achondroplastic Physique
Chondrodystrophia	Dwarf, Achondroplastic
Achondroplastic Short Stature	Congenital Osteosclerosis

Achondrogenesis, Type Ia

Achondrogenesis Type Ia	Achondrogenesis Type 1a
ACG1A	Achondrogenesis, Houston-Harris Type
Achondrogenesis Houston-Harris Type	Achondrogenesis 1a
Acg-Ia

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

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

Retinitis Pigmentosa 2

RP2	X-Linked Retinitis Pigmentosa 2
Xlrp2	Xlrp-2
Retinitis Pigmentosa-2	Retinitis Pigmentosa, Type 2

Hypogonadotropic Hypogonadism 6 With Or Without Anosmia

HH6	Kallmann Syndrome 6
Kal6	Hypogonadotropic Hypogonadism, Type 6 With/Without Anosmia

Bardet-Biedl Syndrome 4

BBS4	Bardet-Biedl Syndrome, Type 4

Cystic Kidney Disease

Renal Cyst	Simple Renal Cyst
Kidney Cysts	Kidney Diseases, Cystic
Renal Cysts	Kidney Cyst
Cystic Kidney	Congenital Cystic Kidney Disease
Cystic Kidney Diseases	Bosniak 1 Cyst

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

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease	Arpkd
Polycystic Kidney Disease, Autosomal Recessive	Polycystic Kidney And Hepatic Disease 1
Pkhd1	PKD4
Polycystic Kidney Disease 4 With Or Without Hepatic Disease	Polycystic Kidney Disease, Infantile, Type I
Polycystic Kidney Disease, Infantile Type	Polycystic Kidney, Autosomal Recessive
Pkd3, Formerly	Polycystic Kidney Disease 4, With Or Without Hepatic Disease
Arpkd/Chf	Ar-Pkd
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease	Infantile Polycystic Kidney Disease Type I
Pkd3	Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
Polycystic Kidney Disease 3, Autosomal Dominant

Cranioectodermal Dysplasia

Sensenbrenner Syndrome	Levin Syndrome 1
Ced	Levin Syndrome
Dysplasia, Cranioectodermal

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

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type	Adpkd
Polycystic Kidney Diseases	Polycystic Kidney, Autosomal Dominant
Congenital Biliary Ectasias	Polycystic Kidney And Hepatic Disease 1
Polycystic Kidney Disease, Autosomal Dominant	Kidney, Polycystic, Disease, Autosomal Dominant
Adult Polycystic Kidney Disease	Polycystic Kidney, Adult Type
Apckd - [Autosomal Polycystic Kidney Disease]

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

Nephronophthisis

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

Ellis-Van Creveld Syndrome

Chondroectodermal Dysplasia	Mesoectodermal Dysplasia
EVC	Ellis Van Creveld Syndrome
Mesodermic Dysplasia	Ellis-Van Creveld Dysplasia

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

Polycystic Kidney Disease

Polycystic Kidney Diseases	Pkd
Polycystic Renal Disease	Kidney Disease, Polycystic
Polycystic Kidney, Autosomal Dominant

Senior-Loken Syndrome 1

Senior-Loken Syndrome	Renal Dysplasia And Retinal Aplasia
Renal-Retinal Syndrome	Loken-Senior Syndrome
Juvenile Nephronophthisis With Leber Amaurosis	SLSN1
Senior-Loken Syndrome-1	Loken Senior Syndrome
Senior Loken Syndrome	Renal Dysplasia Retinal Aplasia
Nephronophthisis With Retinal Dystrophy	Renal Dysplasia-Retinal Aplasia Syndrome
Slsn

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

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

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

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

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

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-RS06601	IFT20 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	IFT20	VGNC	VGNC:73463
Mus musculus	IFT20	MGD	MGI:1915585
Bos taurus	IFT20	VGNC	VGNC:50160
Canis familiaris	IFT20	VGNC	VGNC:54957
Rattus norvegicus	IFT20	RGD	RGD:1309400
Felis catus	IFT20	VGNC	VGNC:62881

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