IFT43 (intraflagellar transport 43)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
112752
Gene name Gene Name - the full gene name approved by the HGNC.
Intraflagellar transport 43
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IFT43
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf179, CED3, RP81, SRTD18
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CED3, RP81, SRTD18
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 29220510
GO:0005737 Component Cytoplasm IEA
GO:0005929 Component Cilium IDA 27932497
GO:0005929 Component Cilium ISS
GO:0005929 Component Cilium TAS
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
614068 29669 ENSG00000119650
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (18)
Causal
Disease term Disease name dbSNP ID References
Arrhythmogenic right ventricular cardiomyopathy ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder) rs63750743, rs121434420, rs121434421, rs193922674, rs111517471, rs137854613, rs113994177, rs121913006, rs121913008, rs121913011, rs121913003, rs121912992, rs397514041, rs386134243, rs193922672
View all (219 more)
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cranioectodermal dysplasia CRANIOECTODERMAL DYSPLASIA 1, CRANIOECTODERMAL DYSPLASIA 3, Cranioectodermal dysplasia rs397515534, rs267607174, rs397515334, rs267607175, rs267607191, rs267607192, rs267607193, rs387906980, rs387906981, rs387907107, rs387907169, rs199952377, rs397515533, rs397515567, rs79436363
View all (13 more)		 26892345, 22791528, 29896747, 21378380
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Cranioectodermal Dysplasia cranioectodermal dysplasia GenCC
Short Rib-Polydactyly Syndrome short-rib thoracic dysplasia 18 with polydactyly GenCC
Retinitis Pigmentosa retinitis pigmentosa 81 GenCC
Astrocytoma Astrocytoma GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining
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