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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55081
Gene name	Intraflagellar transport 57
Gene symbol	IFT57
Synonyms (NCBI Gene)	ESRRBL1HIPPIMHS4R2OFD18
Chromosome	3
Chromosome location	3q13.12-q13.13

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553741312	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs1560127636	T>C	Likely-pathogenic	Intron variant

Show/Hide all (47)

miRTarBase ID	miRNA	Experiments
MIRT1061067	hsa-miR-1915	CLIP-seq
MIRT1061068	hsa-miR-203	CLIP-seq
MIRT1061069	hsa-miR-2052	CLIP-seq
MIRT1061070	hsa-miR-3672	CLIP-seq
MIRT1061071	hsa-miR-4307	CLIP-seq
MIRT1061072	hsa-miR-4328	CLIP-seq
MIRT1061073	hsa-miR-4461	CLIP-seq
MIRT1061074	hsa-miR-448	CLIP-seq
MIRT1061075	hsa-miR-4726-3p	CLIP-seq
MIRT1061076	hsa-miR-501-3p	CLIP-seq
MIRT1061077	hsa-miR-502-3p	CLIP-seq
MIRT2014275	hsa-miR-103a	CLIP-seq
MIRT2014276	hsa-miR-107	CLIP-seq
MIRT2014277	hsa-miR-1184	CLIP-seq
MIRT2014278	hsa-miR-1205	CLIP-seq
MIRT2014279	hsa-miR-1252	CLIP-seq
MIRT2014280	hsa-miR-15a	CLIP-seq
MIRT2014281	hsa-miR-15b	CLIP-seq
MIRT2014282	hsa-miR-16	CLIP-seq
MIRT2014283	hsa-miR-195	CLIP-seq
MIRT2014284	hsa-miR-2277-3p	CLIP-seq
MIRT2014285	hsa-miR-298	CLIP-seq
MIRT2014286	hsa-miR-3158-5p	CLIP-seq
MIRT2014287	hsa-miR-424	CLIP-seq
MIRT2014288	hsa-miR-4504	CLIP-seq
MIRT2014289	hsa-miR-497	CLIP-seq
MIRT2014290	hsa-miR-542-3p	CLIP-seq
MIRT2014291	hsa-miR-548c-3p	CLIP-seq
MIRT1061070	hsa-miR-3672	CLIP-seq
MIRT2246481	hsa-miR-4255	CLIP-seq
MIRT1061073	hsa-miR-4461	CLIP-seq
MIRT2246482	hsa-miR-4476	CLIP-seq
MIRT1061074	hsa-miR-448	CLIP-seq
MIRT1061076	hsa-miR-501-3p	CLIP-seq
MIRT1061077	hsa-miR-502-3p	CLIP-seq
MIRT2550010	hsa-miR-196a	CLIP-seq
MIRT2550011	hsa-miR-196b	CLIP-seq
MIRT2550012	hsa-miR-3140-3p	CLIP-seq
MIRT2550013	hsa-miR-3647-3p	CLIP-seq
MIRT2550014	hsa-miR-4477a	CLIP-seq
MIRT2550015	hsa-miR-944	CLIP-seq
MIRT2550010	hsa-miR-196a	CLIP-seq
MIRT2550011	hsa-miR-196b	CLIP-seq
MIRT2550012	hsa-miR-3140-3p	CLIP-seq
MIRT2550013	hsa-miR-3647-3p	CLIP-seq
MIRT2550014	hsa-miR-4477a	CLIP-seq
MIRT2550015	hsa-miR-944	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	IEA
GO:0001947	Process	Heart looping	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	11788820, 18188704, 24705354, 31637240, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	26980730
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IEA
GO:0006915	Process	Apoptotic process	IDA	11788820
GO:0006915	Process	Apoptotic process	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0010839	Process	Negative regulation of keratinocyte proliferation	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:0032391	Component	Photoreceptor connecting cilium	IDA	31637240
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0035720	Process	Intraciliary anterograde transport	NAS	26980730
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042073	Process	Intraciliary transport	IBA
GO:0042981	Process	Regulation of apoptotic process	IDA	11788820
GO:0042995	Component	Cell projection	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0044292	Component	Dendrite terminus	IEA
GO:0044458	Process	Motile cilium assembly	IEA
GO:0060271	Process	Cilium assembly	NAS	26980730
GO:0060972	Process	Left/right pattern formation	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097546	Component	Ciliary base	IDA	31637240
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
606621	17367	ENSG00000114446

Q9NWB7

Protein name

Intraflagellar transport protein 57 homolog (Dermal papilla-derived protein 8) (Estrogen-related receptor beta-like protein 1) (HIP1-interacting protein) (MHS4R2)

Protein function

Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro-apoptotic function via its interaction with HIP1, leading to recruit

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10498	IFT57	44 → 401	Intra-flagellar transport protein 57	Family

Tissue specificity

TISSUE SPECIFICITY: Present in many tissues such as brain, thymus, lymph node, lung, liver, skin and kidney (at protein level). {ECO:0000269|PubMed:11788820}.

Sequence

MTAALAVVTTSGLEDGVPRSRGEGTGEVVLERGPGAAYHMFVVMEDLVEKLKLLRYEEEF
LRKSNLKAPSRHYFALPTNPGEQFYMFCTLAAWLINKAGRPFEQPQEYDDPNATISNILS
ELRSFGRTADFPPSKLKSGYGEHVCYVLDCFAEEALKYIGFTWKRPIYPVEELEEESVAE
DDAELTLNKVDEEFVEEETDNEENFIDLNVLKAQTYHLDMNETAKQEDILESTTDAAEWS
LEVERVLPQLKVTIRTDNKDWRIHVDQMHQHRSGIESALKETKGFLDKLHNEITRTLEKI
SSREKYINNQLENLVQEYRAAQAQLSEAKERYQQGNGGVTERTRLLSEVMEELEKVKQEM
EEKGSSMTDGAPLVKIKQSLTKLKQETVEMDIRIGIVEHTLLQSKLKEKSNMTRNMHATV
IPEPATGFY

Sequence length

429

Interactions

View interactions

	KEGG		Reactome
	Huntington disease Pathways of neurodegeneration - multiple diseases		Hedgehog 'off' state 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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Orofaciodigital syndrome 18	Pathogenic; Likely pathogenic	rs1553741312, rs1560127636	RCV000600808 RCV000723345	★★★★★ ★★★★☆ 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.
BARDET-BIEDL SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IFT57-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME TYPE 18	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME XVIII	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	27060890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	40273360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	27060890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	BEFREE	27060890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	18188704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39201643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	27060890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	18637945, 21832040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral-facial-digital syndrome with short stature and brachymesophalangy	Oral-facial-digital syndrome with short stature and brachymesophalangy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	BEFREE	27060890		★★★★★ ★☆☆☆☆ Found in Text Mining only
OROFACIODIGITAL SYNDROME XVIII	Orofaciodigital syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME XVIII	Orofaciodigital syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndromes	Orofaciodigital syndrome	Pubtator	19587378, 27060890, 40273360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndromes	Orofaciodigital syndrome	BEFREE	27060890		★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	39201643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	39201643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

IFT57 (intraflagellar transport 57)