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

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	BBS22, 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

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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

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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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003334	Process	Keratinocyte development	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	28428259, 28625565
GO:0005634	Component	Nucleus	IEA
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005929	Component	Cilium	IBA	21873635
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:0030992	Component	Intraciliary transport particle B	IBA	21873635
GO:0030992	Component	Intraciliary transport particle B	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IEA
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IBA	21873635
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IMP	23990561
GO:0035735	Process	Intraciliary transport involved in cilium assembly	TAS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048487	Function	Beta-tubulin binding	IBA	21873635
GO:0048487	Function	Beta-tubulin binding	IDA	23990561
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0060271	Process	Cilium assembly	IMP	23990561
GO:0097542	Component	Ciliary tip	TAS
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
608040	21424	ENSG00000096872

Protein

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

	Reactome
			Intraflagellar transport

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Bardet-biedl syndrome	BARDET-BIEDL SYNDROME 20	rs397704728, rs397515335, rs397515337, rs267607031, rs121918327, rs587777801, rs587777802, rs121918328, rs587777803, rs549625604, rs137852837, rs137852833, rs137852835, rs267606719, rs199874059 View all (560 more)	27486776
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474 View all (3 more)
Rod-cone dystrophy	Rod-Cone Dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	19571808

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Spermatogenic Failure	spermatogenic failure 58	GenCC
Bardet-Biedl Syndrome	Bardet-Biedl syndrome, Bardet-Biedl syndrome 22	GenCC

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
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)