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

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11020
Gene name Gene Name - the full gene name approved by the HGNC.	Intraflagellar transport 27
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IFT27
Synonyms (NCBI Gene) Gene synonyms aliases	BBS19, CFAP156, FAP156, RABL4, RAYL
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q12.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Bardet-Biedl Syndrome	bardet-biedl syndrome 19, bardet-biedl syndrome	rs587777546, rs780659194, rs1569077441	N/A
Jeune Thoracic Dystrophy	jeune thoracic dystrophy	rs1159774355	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bardet Biedl Syndrome	Associate	37239474
Bipolar Disorder	Associate	23038240

IFT27 (intraflagellar transport 27)