KIF7 - kinesin family member 7 Gene

Homo sapiens

Also known as ACLS; AGBK; HLS2; JBTS12; UNQ340

Gene ID: 374654 | Gene type: protein coding

About KIF7

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:89,617,309-89,663,049 (from NCBI)

This gene has 5 transcripts (splice variants), 197 orthologues, 41 paralogues and is associated with 9 phenotypes. Ubiquitous expression in endometrium (RPKM 2.5), prostate (RPKM 2.2) and 24 other tissues.

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 pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]

KIF7 Products(1)

mRNA	Protein	Name
NM_198525.3	NP_940927.2	kinesin-like protein KIF7

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables microtubule motor activity	IDA IDA: Inferred from direct assay	21633164	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19592253	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cilium	IDA IDA: Inferred from direct assay	19592253	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KIF7 Protein Structure

Kinesin

0
300
600
900
1200
1343 a.a.

Protein Preferred Names

Protein Names

kinesin-like protein KIF7

EQYK340

Related Diseases

Diseases

Alias

Al-Gazali-Bakalinova Syndrome

Macrocephaly With Multiple Epiphyseal Dysplasia And Distinctive Facies	Multiple Epiphyseal Dysplasia, Al-Gazali Type
AGBK	Mmedf
Multiple Epiphyseal Dysplasia-Macrocephaly-Distinctive Facies Syndrome

Acrocallosal Syndrome

ACLS	Schinzel Acrocallosal Syndrome
Joubert Syndrome 12	Schinzel Syndrome 1
Acrocallosal Syndrome, Schinzel Type	Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum
Acs	Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly
Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum	JBTS12
Acrocallosal Syndrome

Hydrolethalus Syndrome 2

HLS2	Hydrolethalus Syndrome, Type 2

Hydrolethalus Syndrome 1

Hydrolethalus Syndrome	HLS1
Salonen-Herva-Norio Syndrome	Hls
Hydrolethalus	Hydrolethalus Syndrome, Type 1

Orofaciodigital Syndrome Vi

OFD6	Varadi-Papp Syndrome
Varadi Syndrome	Joubert Syndrome With Orofaciodigital Defect
Orofaciodigital Syndrome Type 6	Orofaciodigital Syndrome 6
Oral-Facial-Digital Syndrome, Type Vi	Ofds Vi
Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation	Polydactyly Cleft Lip Palate Psychomotor Retardation
Oral-Facial-Digital Syndrome Type 6	Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome
Polydactyly - Cleft Lip/Palate - Psychomotor Retardation	Váradi Syndrome
Váradi-Papp Syndrome	Joubert Syndrome With Oral-Facial-Digital Syndrome
Oral-Facial-Digital Syndrome 6	Joubert-Orofaciodigital Syndrome
Orofaciodigital Syndrome, Type Vi

Bardet-Biedl Syndrome 1

BBS1	Bardet-Biedl Syndrome 1, Modifier Of
Bardet-Biedl Syndrome	BBS
Bardet-Biedl Syndrome, Type 1	Laurence-Moon-Bardet-Biedl Syndrome

Hydrocephalus, Congenital, 1

Hydrocephaly	Ventriculomegaly
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	HYC1
Congenital Non-Communicating Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly
Congenital Obstructive Hydrocephalus	Hydrocephalus, Non-Syndromic, Autosomal Recessive 1
Hydrocephalus

Multiple Epiphyseal Dysplasia

Med	Polyepiphyseal Dysplasia
Edm	Epiphyseal Dysplasia, Multiple, 1
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal Dysplasia, Multiple, 3
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal Dysplasia, Multiple, 5
Epiphyseal Dysplasia, Multiple	Edm1
Edm2	Edm3
Edm4	Edm5
Epiphyseal Dysplasia, Fairbank Type	Epiphyseal Dysplasia, Ribbing Type
Multiple Epiphyseal Dysplasia, Autosomal Dominant	Multiple Epiphyseal Dysplasia, Autosomal Recessive
Rmed	Dysplasia, Epiphyseal, Multiple
Osteochondrodysplasias

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Spasticity

Joubert Syndrome 26

JBTS26

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Joubert Syndrome 23

JBTS23

Joubert Syndrome, Type 23

Joubert Syndrome 15

JBTS15

Joubert Syndrome, Type 15

Anencephaly

Aprosencephaly	Anencephalus
Congenital Absence Of Brain	Absence Of A Large Part Of The Brain And The Skull
Anencephalia	Anencephalic Monster
Brain Absence	Brain Agenesis
Brain Aplasia	Absent Brain
Anencephalic	Congenital Absence Of Cerebrum
Congenital Hemicrania	Incomplete Anencephaly

Culler-Jones Syndrome

Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome	CJS
Pallister-Hall Syndrome 2, Formerly	Phs2, Formerly
Pallister-Hall Syndrome 2	Phs2

Hypogonadotropic Hypogonadism 14 With Or Without Anosmia

HH14	Hypogonadism, Hypogonadotropic, Type 14 With/Without Anosmia

Pallister-Hall Syndrome

PHS	Hypothalamic Hamartomas
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly	Hypothalamic Hamartoblastoma Syndrome
Hamartoma Of The Hypothalamus	Pallister Hall Syndrome
Hall-Pallister Syndrome	Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
Hamartoma, Hypothalamic

Apraxia

Apraxias

Dyspraxia

Joubert Syndrome 32

JBTS32

Joubert Syndrome 13

JBTS13

Joubert Syndrome, Type 13

Polydactyly

Non-Syndromic Polydactyly	Polydactyly, Postaxial
Postaxial Polydactyly	Supernumerary Digit
Extra Digits	Hyperdactyly
Polydactylia	Polydactylism
Supernumerary Digits

Greig Cephalopolysyndactyly Syndrome

GCPS	Polysyndactyly With Peculiar Skull Shape
Polysyndactyly With Peculiars Skull Shape	Greig Syndrome
Cephalopolysyndactyly Syndrome	Greig Cephalo-Poly-Syndactyly Syndrome
Cephalopolysyndactyly, Greig Syndrome	Aarskog Syndrome

Joubert Syndrome 21

JBTS21

Joubert Syndrome, Type 21

Joubert Syndrome 3

JBTS3	Joubert Syndrome With Ocular Defect
Joubert Syndrome With Ocular Anomalies	Js-O
Joubert Syndrome With Retinopathy	Joubert Syndrome-3
Joubert Syndrome, Type 3

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome	Gorlin Syndrome
Nbccs	BCNS
Gorlin-Goltz Syndrome	Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
Cerebral Gigantism Jaw Cysts	Cramer Niederdellmann Syndrome
Gorlin Syndrome Or Gorlin-Goltz Syndrome	Naevoid Basal Cell Carcinoma Syndrome

Scoliosis

Coach Syndrome 1

Coach Syndrome	Joubert Syndrome With Congenital Hepatic Fibrosis
Gentile Syndrome	Joubert Syndrome With Hepatic Defect
Js-H	COACH1
Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis	Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis
Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis	Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Iminoglycinuria

Iminoglycinuria, Digenic

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1	Jeune Syndrome
SRTD1	Atd1
Asphyxiating Thoracic Dystrophy Of The Newborn	Jatd
Jeune Asphyxiating Thoracic Dystrophy	Thoracic-Pelvic-Phalangeal Dystrophy
Atd	Asphyxiating Thoracic Dystrophy
Chondroectodermal Dysplasia-Like Syndrome	Infantile Thoracic Dystrophy
Jeune'S Syndrome	Thoracic Pelvic Phalangeal Dystrophy
Jeune Thoracic Dystrophy

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy	Jeune Syndrome
Asphyxiating Thoracic Dysplasia	Short-Rib Thoracic Dysplasia With Or Without Polydactyly
Thoracic Pelvic Phalangeal Dystrophy	Asphyxiating Thoracic Chondrodystrophy
Atd	Chondroectodermal Dysplasia-Like Syndrome
Infantile Thoracic Dystrophy	Jeune Thoracic Dysplasia
Thoracic Asphyxiant Dystrophy	Thoracic-Pelvic-Phalangeal Dystrophy
Short-Rib Thoracic Dysplasia Without Polydactyly	Asphyxiating Thoracic Dystrophy Of The Newborn
Asphyxiating Thorax Dystrophy

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07295	KIF7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	KIF7	VGNC	VGNC:80940
Mus musculus	KIF7	MGD	MGI:1098239
Canis familiaris	KIF7	VGNC	VGNC:42411
Macaca mulatta	KIF7	VGNC	VGNC:108308
Bos taurus	KIF7	VGNC	VGNC:30608
Rattus norvegicus	KIF7	RGD	RGD:1310310