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Mkks Gene Detail
Summary
  • Symbol
    Mkks
  • Name
    McKusick-Kaufman syndrome
  • Synonyms
    1300013E18Rik, Bbs6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891836
    NCBI Gene: 59030
  • Gene Overview
    MyGene.info: MKKS
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr2:136873780-136891389 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17610 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 67.64 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    MKKS, McKusick-Kaufman syndrome
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MKKS, McKusick-Kaufman syndrome
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BBS6, HMCS, KMS, MKS
  • Links
    NCBI Gene ID: 8195
    neXtProt AC: NX_Q9NPJ1
    UniProt: Q9NPJ1

  • Chr Location
    20p12.2; chr20:10404780-10434239 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 10318
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: MKKS
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Mkks mouse models; 2 with human MKKS associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    26 phenotypes from 2 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    39 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mice display partial embryonic lethality, retinal degeneration, obesity, increased food intake, hypoactivity, increased blood pressure, male infertility with the absence of flagella on spermatozoa, decreased aggression, and impaired olfaction but, do not display limb deformities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015555 VEGA Gene Model | MGI Sequence Detail 17610 C57BL/6J ±  kb
transcript OTTMUST00000036952 VEGA | MGI Sequence Detail 3178 Not Applicable  
polypeptide OTTMUSP00000016579 VEGA | MGI Sequence Detail 570 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    229 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000031665 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
  • InterPro Domains
    IPR002423 Chaperonin Cpn60/TCP-1 family
    IPR027409 GroEL-like apical domain superfamily
    IPR027413 GroEL-like equatorial domain superfamily
    IPR028790 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Molecular
Reagents
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  • All nucleic 78
    cDNA 77
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
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MGI:1914141, MGI:2138972, MGI:2139116
References
more
  • Summaries
    All 77
    Developmental Gene Expression 4
    Diseases 2
    Gene Ontology 17
    Phenotypes 39
  • Earliest
    J:13451 Searle AG, Coloboma, Cm. Mouse News Lett. 1966;35:27
  • Latest
    J:237132 Burnicka-Turek O, et al., Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum Mol Genet. 2016 Jul 15;25(14):3011-3028

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/07/2017
MGI 6.11
The Jackson Laboratory