About   Help   FAQ
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
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:136873780-136891389 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 67.64 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    229 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891836
protein coding gene Chr2:136873780-136891505 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026560
protein coding gene Chr2:140663716-140681204 (-)
A/J MGP_AJ_G0026524
protein coding gene Chr2:134963125-134980694 (-)
AKR/J MGP_AKRJ_G0026498
protein coding gene Chr2:138834151-138851746 (-)
BALB/cJ MGP_BALBcJ_G0026536
protein coding gene Chr2:135342572-135360141 (-)
C3H/HeJ MGP_C3HHeJ_G0026279
protein coding gene Chr2:139283750-139301999 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026981
protein coding gene Chr2:144879831-144900236 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024358
protein coding gene Chr2:129499699-129517829 (-)
CAST/EiJ MGP_CASTEiJ_G0025740
protein coding gene Chr2:139660765-139680260 (-)
CBA/J MGP_CBAJ_G0026259
protein coding gene Chr2:150281831-150301332 (-)
DBA/2J MGP_DBA2J_G0026393
protein coding gene Chr2:134323953-134342636 (-)
FVB/NJ MGP_FVBNJ_G0026357
protein coding gene Chr2:132907784-132925303 (-)
LP/J MGP_LPJ_G0026497
protein coding gene Chr2:140831882-140849370 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026377
protein coding gene Chr2:154096821-154114309 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027036
protein coding gene Chr2:138837662-138855813 (-)
PWK/PhJ MGP_PWKPhJ_G0025476
protein coding gene Chr2:133944269-133962387 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025278
protein coding gene Chr2:137945176-137966129 (-)
WSB/EiJ MGP_WSBEiJ_G0025814
protein coding gene Chr2:139746968-139764487 (-)



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; 1 with human MKKS associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
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
less
  • 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027274 Ensembl Gene Model | MGI Sequence Detail 17610 C57BL/6J ±  kb
    transcript ENSMUST00000028730 Ensembl | MGI Sequence Detail 2935 Not Applicable  
    polypeptide ENSMUSP00000028730 Ensembl | MGI Sequence Detail 570 Not Applicable  
    For the selected sequence
    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 79
      cDNA 78
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1914141, MGI:2138972, MGI:2139116
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 18
      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
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory