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Mak Gene Detail
Summary
  • Symbol
    Mak
  • Name
    male germ cell-associated kinase
  • Synonyms
    A930010O05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:96913
    NCBI Gene: 17152
  • Gene Overview
    MyGene.info: MAK
Location & Maps
more
  • Sequence Map
    Chr13:41025120-41079706 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      54587 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 20.25 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    MAK, male germ cell associated kinase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MAK, male germ cell associated kinase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    RP62
  • Links
    NCBI Gene ID: 4117
    neXtProt AC: NX_P20794

  • Chr Location
    6p24; chr6:10762723-10838605 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 31344
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: MAK
  • Gene Tree
    Mak
Human Diseases
more
  • Diseases
    1 with human MAK associations

Human Disease Mouse Models
       Retinitis Pigmentosa 62; RP62   OMIM: 614181
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 2 genetic backgrounds
    5 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.
  • All Mutations and Alleles
    2
  • Chemically induced (other)
    1
  • Targeted
    1
  • Genomic Mutations
    1 involving Mak
  • Incidental Mutations
Males homozygous for a targeted null mutation exhibit slight reductions in litter size and sperm motility in vitro.
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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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021363 Ensembl Gene Model | MGI Sequence Detail 54587 C57BL/6J ±  kb
transcript ENSMUST00000165087 Ensembl | MGI Sequence Detail 3562 Not Applicable  
polypeptide ENSMUSP00000129615 Ensembl | MGI Sequence Detail 646 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    376 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 34
    Genomic 1
    cDNA 30
    Other 3

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-12106, MGI:2444483
References
more
  • Summaries
    All 28
    Developmental Gene Expression 4
    Gene Ontology 5
    Phenotypes 5
  • Earliest
    J:10426 Matsushime H, et al., A novel mammalian protein kinase gene (mak) is highly expressed in testicular germ cells at and after meiosis. Mol Cell Biol. 1990 May;10(5):2261-8
  • Latest
    J:211665 Chaya T, et al., ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport. EMBO J. 2014 Jun 2;33(11):1227-42

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
09/20/2016
MGI 6.05
The Jackson Laboratory