IFT43 (intraflagellar transport 43)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 112752
Gene name Intraflagellar transport 43
Gene symbol IFT43
Synonyms (NCBI Gene)
C14orf179CED3RP81SRTD18
Chromosome 14
Chromosome location 14q24.3
Summary This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs140366557 G>A Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs387907107 A>G Pathogenic Non coding transcript variant, initiator codon variant, missense variant
rs769724508 T>A,C Pathogenic, likely-pathogenic Non coding transcript variant, initiator codon variant, missense variant
miRNA miRNA information provided by mirtarbase database.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
miRTarBase ID miRNA Experiments Reference
MIRT1061028 hsa-miR-1273g CLIP-seq
MIRT1061029 hsa-miR-3136-5p CLIP-seq
MIRT1061030 hsa-miR-4427 CLIP-seq
MIRT1061031 hsa-miR-4439 CLIP-seq
MIRT1061032 hsa-miR-4452 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 27932497, 29220510, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005814 Component Centriole IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005929 Component Cilium IBA
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
614068 29669 ENSG00000119650
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.
Q96FT9
Protein name Intraflagellar transport protein 43 homolog
Protein function As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis (PubMed:28400947, PubMed:28973684). Involved in retrograde c
PDB 8BBE , 8BBG , 8FGW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15305 IFT43 63 → 193 Intraflagellar transport protein 43 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the retina, predominantly in the photoreceptor outer segment. {ECO:0000269|PubMed:28973684}.
Sequence
Sequence length 208
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
    Intraflagellar transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
199
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cranioectodermal dysplasia 3 Likely pathogenic; Pathogenic rs201794999, rs387907107, rs777112610 RCV005005286
RCV000024093
RCV005012297
Malignant tumor of urinary bladder Likely pathogenic rs2037525325 RCV005926694
Retinitis pigmentosa 81 Likely pathogenic; Pathogenic rs201794999, rs777112610 RCV005005286
RCV005012297
Short rib-polydactyly syndrome Pathogenic; Likely pathogenic rs769724508, rs1555369050 RCV000851214
RCV000851215
Show/Hide Unknown Diseases (14)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Likely benign rs138684775 RCV005912826
Colorectal cancer Likely benign rs144732564 RCV005912821
Connective tissue disorder Uncertain significance; Conflicting classifications of pathogenicity rs780644030, rs140127543, rs141114765, rs201966792 RCV002276687
RCV002276728
RCV002279505
RCV002279688
Familial cancer of breast Likely benign rs200781561 RCV005919347
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Nonobstructive Associate 38403804
Cranioectodermal Dysplasia Associate 32007091
Hodgkin Disease Associate 10329597
Leukemia Lymphocytic Chronic B Cell Associate 9129045
Malformations of Cortical Development Group I Associate 8663484
Organizing Pneumonia Associate 33100131
Retinal Degeneration Associate 28973684
Ventricular Dysfunction Left Associate 33100131