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	374654
Gene name	Kinesin family member 7
Gene symbol	KIF7
Synonyms (NCBI Gene)	ACLSAGBKHLS2JBTS12MMEDFUNQ340
Chromosome	15
Chromosome location	15q26.1
Summary	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 (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0003777	Function	Microtubule motor activity	IBA
GO:0003777	Function	Microtubule motor activity	IDA	21633164
GO:0003777	Function	Microtubule motor activity	IEA
GO:0005515	Function	Protein binding	IPI	19592253, 21633164, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005871	Component	Kinesin complex	IBA
GO:0005874	Component	Microtubule	IBA
GO:0005929	Component	Cilium	IDA	19592253
GO:0005929	Component	Cilium	IEA
GO:0007018	Process	Microtubule-based movement	IBA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042995	Component	Cell projection	IEA
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

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

1768

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acrocallosal syndrome	Pathogenic; Likely pathogenic	rs1963620354, rs2142028862, rs1963646325, rs751900799, rs1391614221, rs1567067864, rs138736028, rs763238645, rs772716663, rs1236798408, rs771463286, rs762662896, rs1345505035, rs1250146203, rs1424230161 View all (45 more)	RCV005094474 RCV005005967 RCV005005997 RCV002540270 RCV001885186 RCV003514524 RCV002542369 RCV001885300 RCV001919364 RCV001884256 RCV001946770 RCV001962875 RCV001929230 RCV001941524 RCV001996002 RCV001921837 RCV003078262 RCV001852164 RCV002647779 RCV002574857 RCV002575376 RCV002705785 RCV002716364 RCV002797358 RCV000190601 RCV002834702 RCV002830173 RCV002835385 RCV002909384 RCV000201533 RCV000201660 RCV003042258 RCV003024631 RCV003057331 RCV005932401 RCV003147948 RCV003629110 RCV003326720 RCV003515422 RCV003514728 RCV003630321 RCV003630508 RCV003629901 RCV003882555 RCV000023881 RCV000023882 RCV000023883 RCV000023884 RCV000023885 RCV000604111 RCV000616302 RCV000610998 RCV000604949 RCV001381328 RCV000537774 RCV001377834 RCV000689448 RCV000714581 RCV001175213 RCV002493461
Hydrolethalus syndrome 2	Likely pathogenic; Pathogenic	rs2142028862, rs1963646325, rs751900799, rs763238645, rs762662896, rs1253153154, rs794727316, rs989653101, rs1379956683, rs752248403, rs781752990, rs1235928535, rs1964065704	RCV005005967 RCV005005997 RCV005006016 RCV001814725 RCV005006319 RCV005006143 RCV005016520 RCV005019458 RCV005015077 RCV000023880 RCV005010593 RCV005021117 RCV002493461
Joubert syndrome 12	Pathogenic	rs797044465, rs797044466	RCV000023886 RCV000023887
JOUBERT SYNDROME 12/15, DIGENIC	Pathogenic	rs797044466	RCV000023888
KIF7-related disorder	Likely pathogenic; Pathogenic	rs762662896, rs797045093, rs778139192, rs2505502773, rs770571299, rs2505499561, rs774403667, rs781752990	RCV004744178 RCV004742322 RCV005863042 RCV003416915 RCV003399596 RCV003404571 RCV005863168 RCV004742537
Multiple epiphyseal dysplasia, Al-Gazali type	Likely pathogenic; Pathogenic	rs2142028862, rs1963646325, rs751900799, rs762662896, rs1253153154, rs794727316, rs989653101, rs886039282, rs1379956683, rs752248403, rs781752990, rs1235928535, rs1964065704	RCV005005967 RCV005005997 RCV005006016 RCV005006319 RCV005006143 RCV005016520 RCV005019458 RCV000254711 RCV005015077 RCV001849281 RCV005010593 RCV000714582 RCV002493461
Rare genetic intellectual disability	Likely pathogenic	rs2505426700	RCV001256991

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs72750755	RCV005889105
Colon adenocarcinoma	Benign; Likely benign; Uncertain significance	rs72750755, rs552362795	RCV005889104 RCV005913747
Colorectal cancer	Benign; Likely benign	rs72750755	RCV005889107
Familial cancer of breast	Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs150543610, rs12914042, rs371970440	RCV005911157 RCV005916693 RCV005898700
Hepatocellular carcinoma	Benign; Likely benign	rs12914042, rs72750755	RCV005916694 RCV005889106
Hydrolethalus syndrome	Conflicting classifications of pathogenicity	rs553968087	RCV003483603
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs138410949, rs145726393, rs138354681, rs780942335, rs769890385, rs369168569, rs751522626, rs1567058573, rs1963741468, rs1964038681, rs377280724, rs1420854824	RCV001252541 RCV001252540 RCV005625482 RCV005624707 RCV001252536 RCV005626223 RCV001252535 RCV001252539 RCV001252533 RCV001252537 RCV001252534 RCV001252538
Joubert syndrome	Uncertain significance	rs780942335	RCV000023889
KIF7-related ciliopathy spectrum disorder	Uncertain significance	rs180758272, rs769021701	RCV001249725 RCV001249726
Male infertility due to gonadal dysgenesis or sperm disorder	Conflicting classifications of pathogenicity	rs758361736	RCV003991576
Malignant tumor of esophagus	Uncertain significance	rs142786336	RCV005900178
Nephronophthisis	Conflicting classifications of pathogenicity	rs138354681	RCV001328108
Ovarian serous cystadenocarcinoma	Uncertain significance	rs147040400, rs767837351	RCV005924208 RCV005924039
Sarcoma	Benign; Likely benign	rs72750755	RCV005889108
Scoliosis, isolated, susceptibility to, 1	Benign; Likely benign	rs142032413	RCV001290030
Short-limb skeletal dysplasia with severe combined immunodeficiency	Uncertain significance	rs1212811357	RCV001823576
Thymoma	Benign; Likely benign	rs72750755	RCV005889110
Uterine carcinosarcoma	Benign; Likely benign	rs72750755	RCV005889109
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs72750755	RCV005889111

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)