Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27152
Gene name Gene Name - the full gene name approved by the HGNC.
Inturned planar cell polarity protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
INTU
Synonyms (NCBI Gene) Gene synonyms aliases
CPLANE4, INT, OFD17, PDZD6, PDZK6, SRTD20
Disease Acronyms (UniProt) Disease acronyms from UniProt database
OFD17, SRTD20
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q28.1
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs150681845 G>A Uncertain-significance, likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs373900644 C>G,T Pathogenic, likely-pathogenic Genic upstream transcript variant, stop gained, 5 prime UTR variant, upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1037828930 G>A,T Likely-pathogenic Coding sequence variant, stop gained, missense variant, genic upstream transcript variant, non coding transcript variant
rs1360128571 A>C Likely-pathogenic Coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant, missense variant, downstream transcript variant
rs1553970289 T>- Likely-pathogenic, pathogenic Coding sequence variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT522986 hsa-miR-8485 HITS-CLIP 21572407
MIRT522987 hsa-miR-329-3p HITS-CLIP 21572407
MIRT522985 hsa-miR-362-3p HITS-CLIP 21572407
MIRT522984 hsa-miR-603 HITS-CLIP 21572407
MIRT509527 hsa-miR-4789-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001736 Process Establishment of planar polarity IEA
GO:0005515 Function Protein binding IPI 26644512
GO:0005737 Component Cytoplasm ISS
GO:0007399 Process Nervous system development ISS
GO:0008589 Process Regulation of smoothened signaling pathway ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610621 29239 ENSG00000164066
Protein
UniProt ID Q9ULD6
Protein name Protein inturned (Inturned planar cell polarity effector homolog) (PDZ domain-containing protein 6)
Protein function Plays a key role in ciliogenesis and embryonic development. Regulator of cilia formation by controlling the organization of the apical actin cytoskeleton and the positioning of the basal bodies at the apical cell surface, which in turn is essent
PDB 7Q3D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19031 Intu_longin_1 305 416 First Longin domain of INTU, CCZ1 and HPS4 Domain
PF19032 Intu_longin_2 514 633 Intu longin-like domain 2 Domain
PF19033 Intu_longin_3 796 936 Intu longin-like domain 3 Domain
Sequence
MASVASCDSRPSSDELPGDPSSQEEDEDYDFEDRVSDSGSYSSASSDYDDLEPEWLDSVQ
KNGELFYLELSEDEEESLLPETPTVNHVRFSENEIIIEDDYKERKKYEPKLKQFTKILRR
KRLLPKRCNKKNSNDNGPVSILKHQSNQKTGVIVQQRYKDVNVYVNPKKLTVIKAKEQLK
LLEVLVGIIHQTKWSWRRTGKQGDGERLVVHGLLPGGSAMKSGQVLIGDVLVAVNDVDVT
TENIERVLSCIPGPMQVKLTFENAYDVKRETSHPRQKKTQSNTSDLVKLLWGEEVEGIQQ
SGLNTPHIIMYLTLQLDSETSKEEQEILYHYPMSEASQKLKSVRGIFLTLCDMLENVTGT
QVTSSSLLLNGKQIHVAYWKESDKLLLIGLPAEEVPLPRLRNMIENVIQTLKFMYG
SLDS
AFCQIENVPRLDHFFNLFFQRALQPAKLHSSASPSAQQYDASSAVLLDNLPGVRWLTLPL
EIKMELDMALSDLEAADFAELSEDYYDMRRLYTILGSSLFYKGYLICSHLPKDDLIDIAV
YCRHYCLLPLAAKQRIGQLIIWREVFPQHHLRPLADSSTEVFPEPEGRYFLLVVGLKHYM
LCVLLEAGGCASKAIGSPGPDCVYVDQVKTTLH
QLDGVDSRIDERLASSPVPCLSCADWF
LTGSREKTDSLTTSPILSRLQGTSKVATSPTCRRTLFGDYSLKTRKPSPSCSSGGSDNGC
EGGEDDGFSPHTTPDAVRKQRESQGSDGLEESGTLLKVTKKKSTLPNPFHLGNLKKDLPE
KELEIYNTVKLTSGPENTLFHYVALETVQGIFITPTLEEVAQLSGSIHPQLIKNFHQCCL
SIRAVFQQTLVEEKKKGLNSGDHSDSAKSVSSLNPVKEHGVLFECSPGNWTDQKKAPPVM
AYWVVGRLFLHPKPQELYVCFHDSVTEIAIEIAFKL
FFGLTL
Sequence length 942
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Hedgehog 'off' state
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrioventricular septal defect Atrioventricular Septal Defect rs137852683, rs137852686, rs104894073, rs1598737972, rs1057518960, rs774018674, rs1575650682, rs1598737976, rs1188358849, rs2033057699
Microphthalmos Microphthalmos rs794726862, rs1329285216
Mohr syndrome Mohr Syndrome rs985064686, rs1553970289
Nephronophthisis Nephronophthisis rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856
View all (190 more)
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Renal hypoplasia Congenital hypoplasia of kidney ClinVar
Short Rib-Polydactyly Syndrome short-rib thoracic dysplasia 20 with polydactyly GenCC
Associations from Text Mining
Disease Name Relationship Type References
Colorectal Neoplasms Associate 19037088
Endometriosis Associate 33436679
HIV Infections Associate 20946407
Myelodysplastic Syndromes Associate 26025663
Neoplasms Associate 11152668
Pneumococcal Infections Associate 23043378