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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11020
Gene name	Intraflagellar transport 27
Gene symbol	IFT27
Synonyms (NCBI Gene)	BBS19CFAP156FAP156RABL4RAYL
Chromosome	22
Chromosome location	22q12.3
Summary	This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in mult

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1569077441	T>C	Pathogenic	5 prime UTR variant, genic downstream transcript variant, missense variant, coding sequence variant

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	ISS
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 25443296, 27173435, 31515488, 32296183, 33961781, 35271311
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005794	Component	Golgi apparatus	IBA
GO:0005813	Component	Centrosome	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IDA	25443296
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	26980730
GO:0005929	Component	Cilium	TAS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006886	Process	Intracellular protein transport	IMP	25443296
GO:0006886	Process	Intracellular protein transport	ISS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030992	Component	Intraciliary transport particle B	IBA
GO:0030992	Component	Intraciliary transport particle B	IDA	25443296
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:0031514	Component	Motile cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0035720	Process	Intraciliary anterograde transport	NAS	26980730
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042073	Process	Intraciliary transport	IBA
GO:0042073	Process	Intraciliary transport	IEA
GO:0042073	Process	Intraciliary transport	IMP	25443296
GO:0042073	Process	Intraciliary transport	ISS
GO:0042995	Component	Cell projection	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0060271	Process	Cilium assembly	NAS	26980730
GO:0090102	Process	Cochlea development	IEA
GO:0097225	Component	Sperm midpiece	IEA
GO:0097228	Component	Sperm principal piece	IEA
GO:0097542	Component	Ciliary tip	TAS

MIM	HGNC	e!Ensembl
615870	18626	ENSG00000100360

Q9BW83

Protein name

Intraflagellar transport protein 27 homolog (Putative GTP-binding protein RAY-like) (Rab-like protein 4)

Protein function

Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25443296). Not involved in entry of the BBSome complex into cilium. Prevent

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	7 → 173	Ras family	Domain

Sequence

MVKLAAKCILAGDPAVGKTALAQIFRSDGAHFQKSYTLTTGMDLVVKTVPVPDTGDSVEL
FIFDSAGKELFSEMLDKLWESPNVLCLVYDVTNEESFNNCSKWLEKARSQAPGISLPGVL
VGNKTDLAGRRAVDSAEARAWALGQGLECFETSVKEMENFEAPFHCLAKQFHQLYREKVE
VFRALA

Sequence length

186

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs780659194, rs1569077441	RCV000757977 RCV000757976	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 19	Likely pathogenic; Pathogenic	rs765920708, rs587777546, rs1938292111, rs780659194, rs1569077441	RCV001771815 RCV000128641 RCV004540508 RCV001537637 RCV001537636	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs780659194	RCV005901765	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IFT27-related disorder	Pathogenic; Likely pathogenic	rs587777546, rs780659194	RCV004754306 RCV003392548	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Pathogenic; Likely pathogenic	rs145338298, rs1159774355	RCV004794537 RCV004794446	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anus, Imperforate	Imperforate anus	BEFREE	29704304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	30761183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	24488770, 29704304		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	ORPHANET_DG	24488770		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG	30761183		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BARDET-BIEDL SYNDROME 19	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	24488770, 29704304, 30761183		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 19	Bardet-Biedl Syndrome	UNIPROT_DG	24488770		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 19	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 19	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bipolar Disorder	Bipolar Disorder	BEFREE	23038240		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	23038240		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	23038240	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	BEFREE	29626631, 29704304		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidney	Renal agenesis	BEFREE	29704304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	29704304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	29704304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	29704304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

IFT27 (intraflagellar transport 27)