IFT74 (intraflagellar transport 74)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80173
Gene name Gene Name - the full gene name approved by the HGNC.
Intraflagellar transport 74
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IFT74
Synonyms (NCBI Gene) Gene synonyms aliases
BBS22, CCDC2, CMG-1, CMG1, JBTS40, SPGF58
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cili
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs200699377 G>T Pathogenic Splice acceptor variant, 3 prime UTR variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(58)
miRTarBase ID miRNA Experiments Reference
MIRT027044 hsa-miR-103a-3p Sequencing 20371350
MIRT031787 hsa-miR-16-5p Sequencing 20371350
MIRT709600 hsa-miR-590-3p HITS-CLIP 19536157
MIRT709599 hsa-miR-6828-3p HITS-CLIP 19536157
MIRT709598 hsa-miR-6071 HITS-CLIP 19536157
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(40)
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IEA
GO:0003334 Process Keratinocyte development IEA
GO:0003682 Function Chromatin binding IEA
GO:0005515 Function Protein binding IPI 28428259, 28625565, 32296183
GO:0005634 Component Nucleus 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
608040 21424 ENSG00000096872
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96LB3
Protein name Intraflagellar transport protein 74 homolog (Capillary morphogenesis gene 1 protein) (CMG-1) (Coiled-coil domain-containing protein 2)
Protein function Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium (PubMed:23990561). Binds beta-tubulin via its basic region (PubMed:2
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highly expressed in adult and fetal kidney and expressed at lower level in adult heart, placenta, lung, liver and pancreas, and in fetal heart, lung and liver. Little to no expression was detected in adult brain and skeletal muscle or
Sequence 
MASNHKSSAARPVSRGGVGLTGRPPSGIRPLSGNIRVATAMPPGTARPGSRGCPIGTGGV
LSSQIKVAHRPVTQQGLTGMKTGTKGPQRQILDKSYYLGLLRSKISELTTEVNKLQKGIE
MYNQENSVYLSYEKRAETLAVEIKELQGQLADYNMLVDKLNTNTEMEEVMNDYNMLKAQN
DRETQSLDVIFTERQAKEKQIRSVEEEIEQEKQATDDIIKNMSFENQVKYLEMKTTNEKL
LQELDTLQQQLDSQNMKKESLEAEIAHSQVKQEAVLLHEKLYELESHRDQMIAEDKSIGS
PMEEREKLLKQIKDDNQEIASMERQLTDTKEKINQFIEEIRQLDMDLEEHQGEMNQKYKE
LKKREEHMDTFIETFEETKNQELKRKAQIEANIVALLEHCSRNINRIEQISSITNQELKM
MQDDLNFKSTEVQKSQSTAQNLTSDIQRLQLDLQKMELLESKMTEEQHSLKSKIKQMTTD
LEIYNDLPALKSSGEEKIKKLHQERMILSTHRNAFKKIMEKQNIEYEALKTQLQENETHS
QLTNLERKWQHLEQNNFAMKEFIATKSQESDYQPIKKNVTKQIAEYNKTIVDALHSTSGN
Sequence length 600
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
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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 (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Bardet-Biedl Syndrome Bardet-Biedl syndrome 22 rs200699377 N/A
Show/Hide Unknown Diseases (4)
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
Jeune Thoracic Dystrophy jeune thoracic dystrophy N/A N/A ClinVar
Microcephaly microcephaly N/A N/A ClinVar
Short-Rib Thoracic Dysplasia With Or Without Polydactyly Short-rib thoracic dysplasia 6 with or without polydactyly N/A N/A ClinVar
Spermatogenic Failure spermatogenic failure 58 N/A N/A GenCC
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bardet Biedl Syndrome Associate 32144365
Breast Neoplasms Associate 35564499
Bronchiectasis Associate 37555648
Ciliary Motility Disorders Associate 37555648
Ciliopathies Associate 33875766, 37555648
Coronary Artery Disease Associate 31881747
Frontotemporal Dementia Associate 17166276
Growth Disorders Associate 37555648
Immotile cilia syndrome due to excessively long cilia Associate 37555648
Intellectual Disability Associate 32144365