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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79989
Gene name	Intraflagellar transport 56
Gene symbol	IFT56
Synonyms (NCBI Gene)	BRENSDYF13TTC26dyf-13
Chromosome	7
Chromosome location	7q34

Show/Hide all (74)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052556	hsa-let-7a-5p	CLASH	23622248
MIRT638150	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT638149	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT638148	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT638147	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT638146	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT638145	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT638144	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT638143	hsa-miR-548a-3p	HITS-CLIP	23824327
MIRT638142	hsa-miR-548ar-3p	HITS-CLIP	23824327
MIRT638141	hsa-miR-548az-3p	HITS-CLIP	23824327
MIRT638140	hsa-miR-548e-3p	HITS-CLIP	23824327
MIRT638139	hsa-miR-548f-3p	HITS-CLIP	23824327
MIRT638138	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT638137	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT638136	hsa-miR-8068	HITS-CLIP	23824327
MIRT638137	hsa-miR-3065-5p	HITS-CLIP	27418678
MIRT638137	hsa-miR-3065-5p	HITS-CLIP	27418678
MIRT638138	hsa-miR-3529-3p	HITS-CLIP	27418678
MIRT638138	hsa-miR-3529-3p	HITS-CLIP	27418678
MIRT638143	hsa-miR-548a-3p	HITS-CLIP	27418678
MIRT638143	hsa-miR-548a-3p	HITS-CLIP	27418678
MIRT638150	hsa-miR-548ae-3p	HITS-CLIP	27418678
MIRT638150	hsa-miR-548ae-3p	HITS-CLIP	27418678
MIRT638149	hsa-miR-548ah-3p	HITS-CLIP	27418678
MIRT638149	hsa-miR-548ah-3p	HITS-CLIP	27418678
MIRT638148	hsa-miR-548aj-3p	HITS-CLIP	27418678
MIRT638148	hsa-miR-548aj-3p	HITS-CLIP	27418678
MIRT638147	hsa-miR-548am-3p	HITS-CLIP	27418678
MIRT638147	hsa-miR-548am-3p	HITS-CLIP	27418678
MIRT638146	hsa-miR-548aq-3p	HITS-CLIP	27418678
MIRT638146	hsa-miR-548aq-3p	HITS-CLIP	27418678
MIRT638142	hsa-miR-548ar-3p	HITS-CLIP	27418678
MIRT638142	hsa-miR-548ar-3p	HITS-CLIP	27418678
MIRT638141	hsa-miR-548az-3p	HITS-CLIP	27418678
MIRT638141	hsa-miR-548az-3p	HITS-CLIP	27418678
MIRT638140	hsa-miR-548e-3p	HITS-CLIP	27418678
MIRT638140	hsa-miR-548e-3p	HITS-CLIP	27418678
MIRT638139	hsa-miR-548f-3p	HITS-CLIP	27418678
MIRT638139	hsa-miR-548f-3p	HITS-CLIP	27418678
MIRT638145	hsa-miR-548j-3p	HITS-CLIP	27418678
MIRT638145	hsa-miR-548j-3p	HITS-CLIP	27418678
MIRT638144	hsa-miR-548x-3p	HITS-CLIP	27418678
MIRT638144	hsa-miR-548x-3p	HITS-CLIP	27418678
MIRT638136	hsa-miR-8068	HITS-CLIP	27418678
MIRT638136	hsa-miR-8068	HITS-CLIP	27418678
MIRT638150	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT638149	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT638148	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT638147	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT638146	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT638145	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT638144	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT638143	hsa-miR-548a-3p	HITS-CLIP	23824327
MIRT638142	hsa-miR-548ar-3p	HITS-CLIP	23824327
MIRT638141	hsa-miR-548az-3p	HITS-CLIP	23824327
MIRT638140	hsa-miR-548e-3p	HITS-CLIP	23824327
MIRT638139	hsa-miR-548f-3p	HITS-CLIP	23824327
MIRT638138	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT638137	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT638136	hsa-miR-8068	HITS-CLIP	23824327
MIRT2138483	hsa-miR-137	CLIP-seq
MIRT2138483	hsa-miR-137	CLIP-seq
MIRT2359416	hsa-miR-3664-5p	CLIP-seq
MIRT2359417	hsa-miR-3921	CLIP-seq
MIRT2359418	hsa-miR-4303	CLIP-seq
MIRT2359419	hsa-miR-4653-5p	CLIP-seq
MIRT2359420	hsa-miR-4661-3p	CLIP-seq
MIRT2359421	hsa-miR-4714-5p	CLIP-seq
MIRT2359422	hsa-miR-485-3p	CLIP-seq
MIRT2359423	hsa-miR-487a	CLIP-seq
MIRT2359424	hsa-miR-548k	CLIP-seq
MIRT2359425	hsa-miR-548n	CLIP-seq
MIRT2359426	hsa-miR-548t	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005813	Component	Centrosome	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	IMP	31595528
GO:0005929	Component	Cilium	ISS
GO:0005929	Component	Cilium	NAS	26980730
GO:0005929	Component	Cilium	TAS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0007286	Process	Spermatid development	IEA
GO:0015031	Process	Protein transport	IEA
GO:0030992	Component	Intraciliary transport particle B	IBA
GO:0030992	Component	Intraciliary transport particle B	IEA
GO:0030992	Component	Intraciliary transport particle B	IPI	26980730
GO:0030992	Component	Intraciliary transport particle B	ISS
GO:0035082	Process	Axoneme assembly	IEA
GO:0035082	Process	Axoneme assembly	ISS
GO:0035720	Process	Intraciliary anterograde transport	IBA
GO:0035720	Process	Intraciliary anterograde transport	NAS	26980730
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IBA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IEA
GO:0042073	Process	Intraciliary transport	IEA
GO:0042073	Process	Intraciliary transport	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	31595528
GO:0060271	Process	Cilium assembly	ISS
GO:0060271	Process	Cilium assembly	NAS	26980730
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061512	Process	Protein localization to cilium	ISS
GO:0097542	Component	Ciliary tip	TAS
GO:0097546	Component	Ciliary base	IBA
GO:0120170	Function	Intraciliary transport particle B binding	IBA
GO:0120170	Function	Intraciliary transport particle B binding	IEA
GO:1905198	Process	Manchette assembly	IEA

MIM	HGNC	e!Ensembl
617453	21882	ENSG00000105948

A0AVF1

Protein name

Intraflagellar transport protein 56 (Tetratricopeptide repeat protein 26) (TPR repeat protein 26)

Protein function

Component of the intraflagellar transport (IFT) complex B required for transport of proteins in the motile cilium. Required for transport of specific ciliary cargo proteins related to motility, while it is neither required for IFT complex B asse

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12895	ANAPC3	35 → 117		Domain

Sequence

MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTN
LWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKS
RLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLD
NREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEA
ELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDD
VQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIP
GRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQ
SEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYS
AKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMI
RIMKKWAKENRVSI

Sequence length

554

Interactions

View interactions

	Reactome
			Intraflagellar transport

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Biliary, renal, neurologic, and skeletal syndrome	Likely pathogenic; Pathogenic	rs2130770516, rs2130872867, rs1486636299, rs1794039778	RCV001727916 RCV001728068 RCV003890767 RCV001727843	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Caroli disease	Likely pathogenic	rs1794039778	RCV001175231	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Likely pathogenic; Pathogenic	rs2130770516	RCV001844310	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IFT56-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ciliopathies	Ciliopathies	BEFREE	31595528		★★★★★ ★☆☆☆☆ Found in Text Mining only

IFT56 (intraflagellar transport 56)