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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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      229 from dbSNP Build 142
    Protein
    Information
    less
    • 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
      IPR027410 TCP-1-like chaperonin intermediate domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 78
      cDNA 77
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1914141, MGI:2138972, MGI:2139116
    References
    more
    • Summaries
      All 77
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 17
      Phenotypes 39
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • 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
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory