IFT52 (intraflagellar transport 52)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51098
Gene name Gene Name - the full gene name approved by the HGNC.
Intraflagellar transport 52
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IFT52
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf9, CGI-53, NGD2, NGD5
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mut
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs748090019 C>T Pathogenic Coding sequence variant, stop gained, 5 prime UTR variant
rs886037869 G>A Likely-pathogenic, pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs886037870 T>- Likely-pathogenic, pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
miRTarBase ID miRNA Experiments Reference
MIRT003771 hsa-miR-1-3p Microarray 15685193
MIRT003771 hsa-miR-1-3p Microarray 15685193
MIRT1061056 hsa-miR-1827 CLIP-seq
MIRT1061057 hsa-miR-3123 CLIP-seq
MIRT1061058 hsa-miR-3612 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(41)
GO ID Ontology Definition Evidence Reference
GO:0001841 Process Neural tube formation IEA
GO:0001947 Process Heart looping IEA
GO:0005515 Function Protein binding IPI 31637240
GO:0005515 Function Protein binding ISS
GO:0005813 Component Centrosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617094 15901 ENSG00000101052
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y366
Protein name Intraflagellar transport protein 52 homolog (Protein NGD5 homolog)
Protein function Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:27466190). Required for the antero
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09822 ABC_transp_aux 1 → 116 ABC-type uncharacterized transport system Family
Sequence 
MEKELRSTILFNAYKKEIFTTNNGYKSMQKKLRSNWKIQSLKDEITSEKLNGVKLWITAG
PREKFTAAEFEILKKYLDTGGDVFVMLGEGGESRFDTNINFLLEEYGIMVNNDAVVRNVY
HKYFHPKEALVSSGVLNREISRAAGKAVPGIIDEESSGNNAQALTFVYPFGATLSVMKPA
VAVLSTGSVCFPLNRPILAFYHSKNQGGKLAVLGSCHMFSDQYLDKEENSKIMDVVFQWL
TTGDIHLNQIDAEDPEISDYMMLPYTATLSKRNRECLQESDEIPRDFTTLFDLSIFQLDT
TSFHSVIEAHEQLNVKHEPLQLIQPQFETPLPTLQPAVFPPSFRELPPPPLELFDLDETF
SSEKARLAQITNKCTEEDLEFYVRKCGDILGVTSKLPKDQQDAKHILEHVFFQVVEFKKL
NQEHDIDTSETAFQNNF
Sequence length 437
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
Intraflagellar transport
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Short Rib-Polydactyly Syndrome short rib-polydactyly syndrome rs886037869, rs886037870 N/A
Short-Rib Thoracic Dysplasia With Or Without Polydactyly short-rib thoracic dysplasia 16 with or without polydactyly rs748090019, rs886037869, rs886037870 N/A
Show/Hide Unknown Diseases (3)
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.
Disease merge term Disease name Evidence References Source
Cranioectodermal Dysplasia cranioectodermal dysplasia N/A N/A GenCC
Diabetes Type 2 diabetes N/A N/A GWAS
Jeune Thoracic Dystrophy jeune thoracic dystrophy N/A N/A ClinVar
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 27466190
Polydactyly Associate 27466190
Short Rib Polydactyly Syndrome Associate 27466190