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 pr... See more...

Aliases for KIF7 Gene

Aliases for KIF7 Gene

  • Kinesin Family Member 7 2 3 5
  • Kinesin-Like Protein KIF7 3 4
  • EQYK340 3
  • JBTS12 3
  • UNQ340 3
  • ACLS 3
  • AGBK 3
  • HLS2 3

External Ids for KIF7 Gene

Previous GeneCards Identifiers for KIF7 Gene

  • GC15M087973
  • GC15M090171
  • GC15M066284

Summaries for KIF7 Gene

Entrez Gene Summary for KIF7 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 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]

GeneCards Summary for KIF7 Gene

KIF7 (Kinesin Family Member 7) is a Protein Coding gene. Diseases associated with KIF7 include Al-Gazali-Bakalinova Syndrome and Acrocallosal Syndrome. Among its related pathways are Signaling by GPCR and Pathways in cancer. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF27.

UniProtKB/Swiss-Prot Summary for KIF7 Gene

  • Essential for hedgehog signaling regulation: acts as both 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:21633164). Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation (By similarity). Involved in the regulation of epidermal differentiation and chondrocyte development (By similarity).

Additional gene information for KIF7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIF7 Gene

Genomics for KIF7 Gene

GeneHancer (GH) Regulatory Elements for KIF7 Gene

Promoters and enhancers for KIF7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J089654 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 501.9 +7.8 7753 2.2 HNRNPK POLR2G PHF8 ZNF639 ZBTB10 ZBTB26 ZBTB7A EZH2 MXI1 ZNF341 KIF7 AB372651 TICRR MIR9-3HG lnc-TICRR-6
GH15J089662 Promoter/Enhancer 0.9 EPDnew ENCODE 500.7 -0.1 -149 1.8 POLR2G POLR2A GABPA REST FOS TAF1 ETV1 MAZ CTCF ZBTB33 KIF7 WDR93 PEX11A RPL36AP43 MESP1 TICRR ENSG00000228998 lnc-PEX11A-2
GH15J089892 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12.2 -230.8 -230827 3.4 FOXK2 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A TCF12 USF1 POLR2G SP1 AP3S2 ENSG00000271396 FANCI WDR93 ARPIN CRTC3 KIF7 ENSG00000259212 RPL36AP43 MFGE8
GH15J089574 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 5.7 +86.5 86473 4.4 ZBTB40 SIN3A NRF1 POLR2G SP1 PHF8 FOS ZFX ZNF10 POLR2A TICRR lnc-KIF7-4 KIF7 ENSG00000259615 ENSG00000259713
GH15J089565 Enhancer 0.6 ENCODE 16.7 +96.7 96744 2.6 USF1 SMARCC1 TRIM24 CEBPB CBX5 PRDM10 USF2 TAF1 POLR2A RAD51 KIF7 TICRR PLIN1 lnc-KIF7-4 piR-59769-220 ENSG00000259713
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIF7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIF7

Top Transcription factor binding sites by QIAGEN in the KIF7 gene promoter:
  • AP-4
  • C/EBPalpha
  • CUTL1
  • ER-alpha
  • HOXA5
  • Ik-2
  • LCR-F1
  • Lmo2
  • Nkx5-1
  • Pax-5

Genomic Locations for KIF7 Gene

Genomic Locations for KIF7 Gene
chr15:89,608,789-89,663,074
(GRCh38/hg38)
Size:
54,286 bases
Orientation:
Minus strand
chr15:90,152,020-90,198,682
(GRCh37/hg19)
Size:
46,663 bases
Orientation:
Minus strand

Genomic View for KIF7 Gene

Genes around KIF7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF7 Gene

Proteins for KIF7 Gene

  • Protein details for KIF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M1P5-KIF7_HUMAN
    Recommended name:
    Kinesin-like protein KIF7
    Protein Accession:
    Q2M1P5
    Secondary Accessions:
    • Q3SXY0
    • Q6UXE9
    • Q8IW72

    Protein attributes for KIF7 Gene

    Size:
    1343 amino acids
    Molecular mass:
    150587 Da
    Quaternary structure:
    • Can form homodimers and interacts with microtubules (By similarity). Interacts with GLI1, GLI2, GLI3, SMO and SUFU (PubMed:19592253). Interacts with NPHP1 (PubMed:21633164). Interacts with SMO and DLG5 (via PDZ4 or guanylate kinase-like domain) (By similarity).
    SequenceCaution:
    • Sequence=AAI04045.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI12272.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI12274.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAQ88750.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIF7 Gene

neXtProt entry for KIF7 Gene

Post-translational modifications for KIF7 Gene

Other Protein References for KIF7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KIF7 Gene

Domains & Families for KIF7 Gene

Gene Families for KIF7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KIF7 Gene

GenScript: Design optimal peptide antigens:
  • KIF7 protein (B7ZKY4_HUMAN)
  • Kinesin-like protein KIF7 (KIF7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2M1P5

UniProtKB/Swiss-Prot:

KIF7_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF27 subfamily.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF27 subfamily.
genes like me logo Genes that share domains with KIF7: view

Function for KIF7 Gene

Molecular function for KIF7 Gene

UniProtKB/Swiss-Prot Function:
Essential for hedgehog signaling regulation: acts as both 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:21633164). Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation (By similarity). Involved in the regulation of epidermal differentiation and chondrocyte development (By similarity).

Phenotypes From GWAS Catalog for KIF7 Gene

Gene Ontology (GO) - Molecular Function for KIF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IDA,IEA 21633164
GO:0005515 protein binding IPI 19592253
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with KIF7: view
genes like me logo Genes that share phenotypes with KIF7: view

Human Phenotype Ontology for KIF7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF7 Gene

MGI Knock Outs for KIF7:

Animal Model Products

  • Taconic Biosciences Mouse Models for KIF7

CRISPR Products

miRNA for KIF7 Gene

miRTarBase miRNAs that target KIF7

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KIF7 Gene

Localization for KIF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF7 Gene

Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes to the cilium tip.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIF7 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KIF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005871 kinesin complex IBA 21873635
GO:0005874 microtubule IBA 21873635
GO:0005929 cilium IDA,IEA 19592253
genes like me logo Genes that share ontologies with KIF7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KIF7 Gene

Pathways & Interactions for KIF7 Gene

genes like me logo Genes that share pathways with KIF7: view

Pathways by source for KIF7 Gene

SIGNOR curated interactions for KIF7 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for KIF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA,IBA 21873635
GO:0045879 negative regulation of smoothened signaling pathway ISS --
GO:0045880 positive regulation of smoothened signaling pathway ISS --
genes like me logo Genes that share ontologies with KIF7: view

Drugs & Compounds for KIF7 Gene

No Compound Related Data Available

Transcripts for KIF7 Gene

mRNA/cDNA for KIF7 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIF7 Gene

No ASD Table

Relevant External Links for KIF7 Gene

GeneLoc Exon Structure for
KIF7

Expression for KIF7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIF7 Gene

Protein differential expression in normal tissues from HIPED for KIF7 Gene

This gene is overexpressed in Cervix (37.2) and Plasma (15.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIF7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIF7

SOURCE GeneReport for Unigene cluster for KIF7 Gene:

Hs.513134

mRNA Expression by UniProt/SwissProt for KIF7 Gene:

Q2M1P5-KIF7_HUMAN
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.

Evidence on tissue expression from TISSUES for KIF7 Gene

  • Heart(4.1)
  • Lung(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pituitary gland
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • anus
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • ureter
  • urethra
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • lymph node
  • lymph vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with KIF7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for KIF7 Gene

Orthologs for KIF7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KIF7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIF7 31 30
  • 90.1 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIF7 31
  • 90 (a)
OneToOne
LOC538808 30
  • 88.36 (n)
dog
(Canis familiaris)
Mammalia KIF7 31 30
  • 88.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kif7 17 31 30
  • 85.25 (n)
rat
(Rattus norvegicus)
Mammalia Kif7 30
  • 84.74 (n)
oppossum
(Monodelphis domestica)
Mammalia KIF7 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIF7 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIF7 31 30
  • 72.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIF7 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3680 30
zebrafish
(Danio rerio)
Actinopterygii kif7 31 30
  • 62.39 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CIN8 31
  • 18 (a)
OneToMany
Species where no ortholog for KIF7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KIF7 Gene

ENSEMBL:
Gene Tree for KIF7 (if available)
TreeFam:
Gene Tree for KIF7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIF7: view image

Paralogs for KIF7 Gene

(5) SIMAP similar genes for KIF7 Gene using alignment to 3 proteins:

  • KIF7_HUMAN
  • B7ZKY4_HUMAN
  • F8WD21_HUMAN
genes like me logo Genes that share paralogs with KIF7: view

Variants for KIF7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIF7 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
642388 Uncertain Significance: Acrocallosal syndrome, Schinzel type 89,631,545(-) G/A MISSENSE_VARIANT
642997 Uncertain Significance: Acrocallosal syndrome, Schinzel type 89,648,265(-) C/T MISSENSE_VARIANT
647743 Uncertain Significance: Acrocallosal syndrome, Schinzel type 89,646,975(-) G/A MISSENSE_VARIANT
647892 Uncertain Significance: Acrocallosal syndrome, Schinzel type 89,629,436(-) C/G MISSENSE_VARIANT
649419 Uncertain Significance: Acrocallosal syndrome, Schinzel type 89,628,558(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KIF7 Gene

Structural Variations from Database of Genomic Variants (DGV) for KIF7 Gene

Variant ID Type Subtype PubMed ID
esv34025 CNV loss 18971310
esv3892721 CNV gain 25118596
nsv1160317 CNV duplication 26073780
nsv1659 CNV deletion 18451855
nsv521260 CNV loss 19592680

Variation tolerance for KIF7 Gene

Residual Variation Intolerance Score: 49.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.01; 99.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIF7 Gene

Human Gene Mutation Database (HGMD)
KIF7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIF7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF7 Gene

Disorders for KIF7 Gene

MalaCards: The human disease database

(38) MalaCards diseases for KIF7 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KIF7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIF7_HUMAN
  • Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and hydrolethalus syndrome among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. Primary ciliopathy loci can be modulated by pathogenic lesions in other ciliary genes to either exacerbate overall severity or induce specific endophenotypes. KIF7 may be causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum.
  • Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:21552264}. Note=The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity.
  • Hydrolethalus syndrome 2 (HLS2) [MIM:614120]: An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. {ECO:0000269 PubMed:21552264}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Acrocallosal syndrome (ACLS) [MIM:200990]: An autosomal recessive syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and mental retardation. {ECO:0000269 PubMed:21552264, ECO:0000269 PubMed:23125460, ECO:0000269 PubMed:26174511}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Joubert syndrome 12 (JBTS12) [MIM:200990]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269 PubMed:21633164}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Al-Gazali-Bakalinova syndrome (AGBK) [MIM:607131]: An autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. {ECO:0000269 PubMed:22587682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KIF7

genes like me logo Genes that share disorders with KIF7: view

No data available for Genatlas for KIF7 Gene

Publications for KIF7 Gene

  1. Characterization of KIF7 gene in silico. (PMID: 15547730) Katoh Y … Katoh M (International journal of oncology 2004) 2 3 4 54
  2. Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. (PMID: 26174511) Tunovic S … Slavotinek AM (American journal of medical genetics. Part A 2015) 3 4 54
  3. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. (PMID: 23125460) Putoux A … Attié-Bitach T (Journal of medical genetics 2012) 3 4 54
  4. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. (PMID: 22587682) Ali BR … Al-Gazali L (Orphanet journal of rare diseases 2012) 3 4 54
  5. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. (PMID: 21552264) Putoux A … Attié-Bitach T (Nature genetics 2011) 3 4 54

Products for KIF7 Gene

Sources for KIF7 Gene