IFT20 - intraflagellar transport 20 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 90410

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P11329	GFP11		98.57%	Unkown
HY-RS06601	IFT20 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	IFT20	NCBI