Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80173
Gene name	Intraflagellar transport 74
Gene symbol	IFT74
Synonyms (NCBI Gene)	BBS22CCDC2CMG-1CMG1JBTS40SPGF58
Chromosome	9
Chromosome location	9p21.2
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs200699377	G>T	Pathogenic	Splice acceptor variant, 3 prime UTR variant, genic downstream transcript variant

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
MIRT709597	hsa-miR-544a	HITS-CLIP	19536157
MIRT709596	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT324839	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT324840	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT031787	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT324841	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT709600	hsa-miR-590-3p	HITS-CLIP	19536157
MIRT709599	hsa-miR-6828-3p	HITS-CLIP	19536157
MIRT709598	hsa-miR-6071	HITS-CLIP	19536157
MIRT709597	hsa-miR-544a	HITS-CLIP	19536157
MIRT709596	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT1061078	hsa-miR-1303	CLIP-seq
MIRT1061079	hsa-miR-4276	CLIP-seq
MIRT1061080	hsa-miR-1185	CLIP-seq
MIRT1061081	hsa-miR-129-5p	CLIP-seq
MIRT1061078	hsa-miR-1303	CLIP-seq
MIRT1061082	hsa-miR-15a	CLIP-seq
MIRT1061083	hsa-miR-15b	CLIP-seq
MIRT1061084	hsa-miR-16	CLIP-seq
MIRT1061085	hsa-miR-195	CLIP-seq
MIRT1061086	hsa-miR-3679-5p	CLIP-seq
MIRT1061087	hsa-miR-424	CLIP-seq
MIRT1061088	hsa-miR-451b	CLIP-seq
MIRT1061089	hsa-miR-4524	CLIP-seq
MIRT1061090	hsa-miR-497	CLIP-seq
MIRT1061091	hsa-miR-503	CLIP-seq
MIRT1061092	hsa-miR-646	CLIP-seq
MIRT1061080	hsa-miR-1185	CLIP-seq
MIRT1061078	hsa-miR-1303	CLIP-seq
MIRT1061082	hsa-miR-15a	CLIP-seq
MIRT1061083	hsa-miR-15b	CLIP-seq
MIRT1061084	hsa-miR-16	CLIP-seq
MIRT2246483	hsa-miR-181a	CLIP-seq
MIRT2246484	hsa-miR-181b	CLIP-seq
MIRT2246485	hsa-miR-181c	CLIP-seq
MIRT2246486	hsa-miR-181d	CLIP-seq
MIRT1061085	hsa-miR-195	CLIP-seq
MIRT1061086	hsa-miR-3679-5p	CLIP-seq
MIRT1061087	hsa-miR-424	CLIP-seq
MIRT2246487	hsa-miR-4262	CLIP-seq
MIRT1061088	hsa-miR-451b	CLIP-seq
MIRT1061089	hsa-miR-4524	CLIP-seq
MIRT1061090	hsa-miR-497	CLIP-seq
MIRT1061091	hsa-miR-503	CLIP-seq
MIRT2246488	hsa-miR-543	CLIP-seq
MIRT1061092	hsa-miR-646	CLIP-seq
MIRT2246483	hsa-miR-181a	CLIP-seq
MIRT2246484	hsa-miR-181b	CLIP-seq
MIRT2246485	hsa-miR-181c	CLIP-seq
MIRT2246486	hsa-miR-181d	CLIP-seq
MIRT2389280	hsa-miR-331-5p	CLIP-seq
MIRT2246487	hsa-miR-4262	CLIP-seq
MIRT2246488	hsa-miR-543	CLIP-seq

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
GO:0005813	Component	Centrosome	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	26980730
GO:0005929	Component	Cilium	TAS
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030992	Component	Intraciliary transport particle B	IBA
GO:0030992	Component	Intraciliary transport particle B	IEA
GO:0030992	Component	Intraciliary transport particle B	IPI	26980730
GO:0030992	Component	Intraciliary transport particle B	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IEA
GO:0035720	Process	Intraciliary anterograde transport	NAS	26980730
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IBA
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IMP	23990561
GO:0042073	Process	Intraciliary transport	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048487	Function	Beta-tubulin binding	IBA
GO:0048487	Function	Beta-tubulin binding	IDA	23990561
GO:0048487	Function	Beta-tubulin binding	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	23990561
GO:0060271	Process	Cilium assembly	NAS	26980730
GO:0097542	Component	Ciliary tip	TAS
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
608040	21424	ENSG00000096872

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

	Reactome
			Intraflagellar transport

190

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic	rs201953338	RCV005926993
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs150219690	RCV005361704
Bardet-Biedl syndrome 22	Pathogenic; Likely pathogenic	rs2131541114, rs1391036863, rs200699377	RCV001554330 RCV005254118 RCV000240867
IFT74-related disorder	Likely pathogenic; Pathogenic	rs150219690, rs377639405, rs766986213, rs200556379, rs201953338, rs1391036863, rs1334193252, rs200699377, rs1350359379	RCV004743566 RCV003923391 RCV004744563 RCV003434569 RCV003420542 RCV004725329 RCV004725404 RCV003409371 RCV004741699
Jeune thoracic dystrophy	Likely pathogenic	rs759662469	RCV000515865
Joubert syndrome 40	Likely pathogenic; Pathogenic	rs150219690, rs2131480409, rs2131540908, rs751583919, rs1056125920, rs2131642498, rs1391036863	RCV001731252 RCV001731253 RCV001731254 RCV001731255 RCV001731256 RCV002248338 RCV003147778
Multiple Morphological Anomalies of Sperm Flagella (MMAF)	Pathogenic	rs2131525662	RCV001420509
Spermatogenic failure 58	Pathogenic	rs2131525662	RCV001732114

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs73436090	RCV005903582
Colon adenocarcinoma	Benign	rs73436090	RCV005903581
Familial pancreatic carcinoma	Uncertain significance	rs551515830	RCV005869563
Gastric cancer	Benign	rs755949918, rs73436090, rs75391688	RCV005869860 RCV005903583 RCV005907920
Joubert syndrome	Uncertain significance	rs201462617	RCV005863532
Malignant tumor of esophagus	Benign	rs75391688	RCV005907919
Melanoma	Uncertain significance	rs201462617	RCV005923965
Microcephaly	Uncertain significance; Benign	rs756024765, rs372620127	RCV001252754 RCV001252739
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs2131720086, rs144847384	RCV004816759 RCV004816950
Ovarian serous cystadenocarcinoma	Uncertain significance	rs370062629	RCV005925688
Retinal dystrophy	Uncertain significance	rs73436007, rs2131720086	RCV004816755 RCV004816758
Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance	rs551515830	RCV000515942
Uterine carcinosarcoma	Uncertain significance	rs369587850	RCV005924315
Uterine corpus endometrial carcinoma	Benign	rs755949918, rs73436090	RCV005869861 RCV005903584

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Neoplasms	Associate	35564499
Obesity	Associate	32144365
Pdgfra Associated Chronic Eosinophilic Leukemia	Associate	30697976
Retinal Dysplasia	Associate	37555648
Retinal Dystrophies	Associate	32144365
Short Rib Polydactyly Syndrome	Associate	37555648

IFT74 (intraflagellar transport 74)