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.	374654
Gene name Gene Name - the full gene name approved by the HGNC.	Kinesin family member 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KIF7
Synonyms (NCBI Gene) Gene synonyms aliases	ACLS, AGBK, HLS2, JBTS12, MMEDF, UNQ340
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ACLS, AGBK, HLS2, JBTS12
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q26.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH path

Show/Hide all(43)

SNP ID	Visualize variation	Clinical significance	Consequence
rs79532879	C>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs138196132	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs138410949	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs138764398	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs138993311	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141097070	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs141514601	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142488318	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs143877028	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144929293	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148749994	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs151317163	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199959946	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs202229910	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs387907044	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs387907045	G>A	Pathogenic	Coding sequence variant, stop gained
rs398124613	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs569323391	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs587780375	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs752248403	GC>-	Pathogenic	Frameshift variant, coding sequence variant
rs758361736	T>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs774403667	G>C	Pathogenic	Intron variant
rs776233268	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs778139192	G>A,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs781752990	A>C	Pathogenic	Splice donor variant
rs794727316	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs794727530	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs797044463	->A	Pathogenic	Frameshift variant, coding sequence variant
rs797044464	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044465	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044466	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045093	C>A	Pathogenic	Coding sequence variant, stop gained
rs886039282	T>C	Pathogenic	Coding sequence variant, missense variant
rs886041531	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691958	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1235928535	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555423120	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555423165	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555424505	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555424684	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555425036	ATGTAC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1567057019	C>G	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs1567060070	G>A	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all(19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023103	hsa-miR-124-3p	Microarray	18668037
MIRT038214	hsa-miR-342-5p	CLASH	23622248
MIRT1095131	hsa-miR-1245b-3p	CLIP-seq
MIRT1095132	hsa-miR-1254	CLIP-seq
MIRT1095133	hsa-miR-1288	CLIP-seq
MIRT1095134	hsa-miR-1290	CLIP-seq
MIRT1095135	hsa-miR-147b	CLIP-seq
MIRT1095136	hsa-miR-2861	CLIP-seq
MIRT1095137	hsa-miR-2909	CLIP-seq
MIRT1095138	hsa-miR-3116	CLIP-seq
MIRT1095139	hsa-miR-3167	CLIP-seq
MIRT1095140	hsa-miR-3169	CLIP-seq
MIRT1095141	hsa-miR-3616-3p	CLIP-seq
MIRT1095142	hsa-miR-4455	CLIP-seq
MIRT1095143	hsa-miR-4512	CLIP-seq
MIRT1095144	hsa-miR-4721	CLIP-seq
MIRT1095145	hsa-miR-640	CLIP-seq
MIRT1095146	hsa-miR-653	CLIP-seq
MIRT1095147	hsa-miR-876-5p	CLIP-seq

Show/Hide all(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003777	Function	Microtubule motor activity	IBA	21873635
GO:0003777	Function	Microtubule motor activity	IDA	21633164
GO:0005515	Function	Protein binding	IPI	19592253, 21633164
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005871	Component	Kinesin complex	IBA	21873635
GO:0005874	Component	Microtubule	IBA	21873635
GO:0005929	Component	Cilium	IDA	19592253
GO:0007018	Process	Microtubule-based movement	IBA	21873635
GO:0008017	Function	Microtubule binding	IBA	21873635
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0036064	Component	Ciliary basal body	ISS
GO:0045879	Process	Negative regulation of smoothened signaling pathway	ISS
GO:0045880	Process	Positive regulation of smoothened signaling pathway	ISS
GO:0097542	Component	Ciliary tip	TAS

MIM	HGNC	e!Ensembl
611254	30497	ENSG00000166813

Protein

UniProt ID

Q2M1P5

Protein name

Kinesin-like protein KIF7

Protein function

Essential for hedgehog signaling regulation: acts both as a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms (PubMed:216

PDB

2XT3 , 4A14 , 6MLQ , 6MLR , 7RX0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00225	Kinesin	21 → 349	Kinesin motor domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Embryonic stem cells, melanotic melanoma and Jurkat T-cells. Expressed in heart, lung, liver, kidney, testis, retina, placenta, pancreas, colon, small intestin, prostate and thymus. {ECO:0000269|PubMed:21633164}.

Sequence

MGLEAQRLPGAEEAPVRVALRVRPLLPKELLHGHQSCLQVEPGLGRVTLGRDRHFGFHVV
LAEDAGQEAVYQACVQPLLEAFFEGFNATVFAYGQTGSGKTYTMGEASVASLLEDEQGIV
PRAMAEAFKLIDENDLLDCLVHVSYLEVYKEEFRDLLEVGTASRDIQLREDERGNVVLCG
VKEVDVEGLDEVLSLLEMGNAARHTGATHLNHLSSRSHTVFTVTLEQRGRAPSRLPRPAP
GQLLVSKFHFVDLAGSERVLKTGSTGERLKESIQINSSLLALGNVISALGDPQRRGSHIP
YRDSKITRILKDSLGGNAKTVMIACVSPSSSDFDETLNTLNYASRAQNIRNRATVNWRPE
AERPPEETASGARGPPRHRSETRIIHRGRRAPGPATASAAAAMRLGAECARYRACTDAAY
SLLRELQAEPGLPGAAARKVRDWLCAVEGERSALSSASGPDSGIESASVEDQAAQGAGGR
KEDEGAQQLLTLQNQVARLEEENRDFLAALEDAMEQYKLQSDRLREQQEEMVELRLRLEL
VRPGWGGPRLLNGLPPGSFVPRPHTAPLGGAHAHVLGMVPPACLPGDEVGSEQRGEQVTN
GREAGAELLTEVNRLGSGSSAASEEEEEEEEPPRRTLHLRRNRISNCSQRAGARPGSLPE
RKGPELCLEELDAAIPGSRAVGGSKARVQARQVPPATASEWRLAQAQQKIRELAINIRMK
EELIGELVRTGKAAQALNRQHSQRIRELEQEAEQVRAELSEGQRQLRELEGKELQDAGER
SRLQEFRRRVAAAQSQVQVLKEKKQATERLVSLSAQSEKRLQELERNVQLMRQQQGQLQR
RLREETEQKRRLEAEMSKRQHRVKELELKHEQQQKILKIKTEEIAAFQRKRRSGSNGSVV
SLEQQQKIEEQKKWLDQEMEKVLQQRRALEELGEELHKREAILAKKEALMQEKTGLESKR
LRSSQALNEDIVRVSSRLEHLEKELSEKSGQLRQGSAQSQQQIRGEIDSLRQEKDSLLKQ
RLEIDGKLRQGSLLSPEEERTLFQLDEAIEALDAAIEYKNEAITCRQRVLRASASLLSQC
EMNLMAKLSYLSSSETRALLCKYFDKVVTLREEQHQQQIAFSELEMQLEEQQRLVYWLEV
ALERQRLEMDRQLTLQQKEHEQNMQLLLQQSRDHLGEGLADSRRQYEARIQALEKELGRY
MWINQELKQKLGGVNAVGHSRGGEKRSLCSEGRQAPGNEDELHLAPELLWLSPLTEGAPR
TREETRDLVHAPLPLTWKRSSLCGEEQGSPEELRQREAAEPLVGRVLPVGEAGLPWNFGP
LSKPRRELRRASPGMIDVRKNPL

Sequence length

1343

Interactions

View interactions

	KEGG		Reactome
	Hedgehog signaling pathway Motor proteins Pathways in cancer Basal cell carcinoma		Hedgehog 'off' state Hedgehog 'on' state

Show/Hide Causal Diseases (28)

Disease term	Disease name	dbSNP ID	References
Causal
Acrocallosal syndrome	Acrocallosal Syndrome, Acrocallosal syndrome, Schinzel type, Acrocallosal syndrome	rs752248403, rs387907044, rs387907045, rs797044463, rs797044464, rs794727316, rs797045093, rs778139192, rs202229910, rs886041531, rs1555425036, rs774403667, rs1555424505, rs1555424684, rs1555423165 View all (4 more)	23125460, 21552264, 26174511, 21633164, 23142271, 19666503, 26648833, 26092869, 29321670, 21937992
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Anencephaly	Anencephaly	rs773607884
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Bardet-biedl syndrome	Bardet-Biedl syndrome 1 (disorder)	rs397704728, rs397515335, rs397515337, rs267607031, rs121918327, rs587777801, rs587777802, rs121918328, rs587777803, rs549625604, rs137852837, rs137852833, rs137852835, rs267606719, rs199874059 View all (560 more)	21552264
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Cerebellar vermis agenesis	Familial aplasia of the vermis	rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003 View all (121 more)	21633164
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs775394591
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321 View all (13 more)
Cryptorchidism	Cryptorchidism, Bilateral Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hydrolethalus syndrome	HYDROLETHALUS SYNDROME 1, Hydrolethalus syndrome, Hydrolethalus Syndrome 2, Hydrolethalus	rs104894232, rs137852520, rs752248403, rs797045674, rs797045673, rs1557090161, rs1575362216, rs1575362492	21552264
Mental retardation	Profound Mental Retardation, Severe intellectual disability, Mental deficiency, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	21937992
Joubert syndrome	JOUBERT SYNDROME 12	rs201108965, rs13297509, rs121918128, rs121918129, rs121918130, rs2109050324, rs118204052, rs118204053, rs121918197, rs121918198, rs121918199, rs121918200, rs121918204, rs387906243, rs145665129 View all (432 more)
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	14738752, 22587682, 21552264, 25714560, 9066878, 23125460, 7424976, 21633164
Multiple epiphyseal dysplasia	Multiple Epiphyseal Dysplasia, Multiple epiphyseal dysplasia, Al-Gazali type	rs786200881, rs104893915, rs104893919, rs104893916, rs386833492, rs104893924, rs104893645, rs104893637, rs28939677, rs104893641, rs137852654, rs193922900, rs137852655, rs869320730, rs28936368 View all (58 more)
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Orofaciodigital syndrome	OROFACIODIGITAL SYNDROME VI, Orofaciodigital syndrome type 6	rs122460150, rs312262822, rs312262833, rs312262886, rs312262890, rs2139738553, rs387907273, rs793888507, rs768525869, rs312262863, rs312262868, rs312262887, rs312262821, rs312262834, rs312262845 View all (42 more)	21633164
Polydactyly	Polydactyly, POLYDACTYLY, POSTAXIAL, Polydactyly preaxial type 1	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474 View all (3 more)
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304
Syndromic microphthalmia	Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457 View all (19 more)

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis	ClinVar
Hydrolethalus Syndrome	hydrolethalus syndrome	GenCC
Orofaciodigital Syndrome	orofaciodigital syndrome type 6	GenCC
Multiple Epiphyseal Dysplasia	multiple epiphyseal dysplasia, Al-Gazali type	GenCC
Neurodevelopmental Disorders	neurodevelopmental disorder	GenCC

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining
Acrocallosal Syndrome	Associate	22281744, 22587682, 31399769
Agenesis of Cerebellar Vermis	Associate	22587682, 28596487, 32040484
Bone Diseases	Associate	31399769
Brain Diseases	Associate	21552264
Capillary Malformation Arteriovenous Malformation	Associate	21552264
Carcinoma Ovarian Epithelial	Associate	31658044
Choriocarcinoma	Associate	25265279
Ciliopathies	Associate	21552264, 28596487
Cleft Palate	Associate	21552264
Genetic Diseases Inborn	Associate	22587682, 28805617
Gestational Trophoblastic Disease	Associate	25265279
Hydatidiform Mole	Inhibit	25265279
Hydrolethalus syndrome	Associate	21552264, 22281744, 22587682
Intellectual Disability	Associate	27218255
Lung Neoplasms	Associate	32945133
Megalencephaly	Associate	22587682
Neoplasms	Associate	22281744
Neoplasms	Inhibit	31658044, 32945133
Optic Nerve Hypoplasia	Associate	32040484
Osteochondrodysplasias	Associate	22587682
Otitis Media	Associate	23974705
Otitis Media with Effusion	Associate	23974705
Polydactyly	Associate	21552264

KIF7 (kinesin family member 7)