INTU (inturned planar cell polarity protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 27152
Gene name Inturned planar cell polarity protein
Gene symbol INTU
Synonyms (NCBI Gene)
CPLANE4INTOFD17PDZD6PDZK6SRTD20
Chromosome 4
Chromosome location 4q28.1
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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.
460
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (460)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001736 Process Establishment of planar polarity IEA
GO:0001736 Process Establishment of planar polarity NAS 27158779
GO:0005515 Function Protein binding IPI 26644512, 27173435, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610621 29239 ENSG00000164066
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
QVTSSSLLLNGKQIHVAYWKESDKLLLIGLPAEEVPLPRLRNMIENVIQTLKFMYGSLDS
AFCQIENVPRLDHFFNLFFQRALQPAKLHSSASPSAQQYDASSAVLLDNLPGVRWLTLPL
EIKMELDMALSDLEAADFAELSEDYYDMRRLYTILGSSLFYKGYLICSHLPKDDLIDIAV
YCRHYCLLPLAAKQRIGQLIIWREVFPQHHLRPLADSSTEVFPEPEGRYFLLVVGLKHYM
LCVLLEAGGCASKAIGSPGPDCVYVDQVKTTLHQLDGVDSRIDERLASSPVPCLSCADWF
LTGSREKTDSLTTSPILSRLQGTSKVATSPTCRRTLFGDYSLKTRKPSPSCSSGGSDNGC
EGGEDDGFSPHTTPDAVRKQRESQGSDGLEESGTLLKVTKKKSTLPNPFHLGNLKKDLPE
KELEIYNTVKLTSGPENTLFHYVALETVQGIFITPTLEEVAQLSGSIHPQLIKNFHQCCL
SIRAVFQQTLVEEKKKGLNSGDHSDSAKSVSSLNPVKEHGVLFECSPGNWTDQKKAPPVM
AYWVVGRLFLHPKPQELYVCFHDSVTEIAIEIAFKLFFGLTL
Sequence length 942
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Hedgehog 'off' state
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mohr syndrome Likely pathogenic; Pathogenic rs1553970289 RCV000851201
Orofaciodigital syndrome 17 Likely pathogenic; Pathogenic rs1729889650, rs2148734459, rs2530892886, rs1553970289 RCV001837370
RCV002262193
RCV004595405
RCV000599596
Short rib-polydactyly syndrome Likely pathogenic rs1037828930, rs1360128571 RCV000851203
RCV000851204
Short-rib thoracic dysplasia 20 with polydactyly Likely pathogenic; Pathogenic rs1729889650, rs2148734459, rs1037828930, rs1360128571 RCV001837370
RCV002262193
RCV000599556
RCV000598855
Show/Hide Unknown Diseases (16)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs73847044 RCV005911707
Cervical cancer Benign rs34311863 RCV005928183
Cholangiocarcinoma Benign rs377528224 RCV005871351
Colon adenocarcinoma Benign rs34311863 RCV005928182
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
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