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Cmas Gene Detail
Summary
  • Symbol
    Cmas
  • Name
    cytidine monophospho-N-acetylneuraminic acid synthetase
  • Synonyms
    CMP-Neu5Ac synthase, CMP-sialic acid synthetase, D6Bwg0250e
  • Feature Type
    protein coding gene
  • IDs
    MGI:1337124
    NCBI Gene: 12764
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:142702468-142721440 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 74.66 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    258 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1337124
 protein coding gene Chr6:142702412-142721440 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031469
 protein coding gene Chr6:147564101-147583117 (+)
A/J MGP_AJ_G0031444
 protein coding gene Chr6:141767363-141786373 (+)
AKR/J MGP_AKRJ_G0031372
 protein coding gene Chr6:145987656-146006686 (+)
BALB/cJ MGP_BALBcJ_G0031451
 protein coding gene Chr6:141538089-141557103 (+)
C3H/HeJ MGP_C3HHeJ_G0031173
 protein coding gene Chr6:146024991-146044005 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031913
 protein coding gene Chr6:151611048-151630062 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029037
 protein coding gene Chr6:140594908-140613453 (+)
CAST/EiJ MGP_CASTEiJ_G0030541
 protein coding gene Chr6:145604435-145623485 (+)
CBA/J MGP_CBAJ_G0031133
 protein coding gene Chr6:157379347-157398349 (+)
DBA/2J MGP_DBA2J_G0031290
 protein coding gene Chr6:140603116-140622167 (+)
FVB/NJ MGP_FVBNJ_G0031241
 protein coding gene Chr6:139345039-139364070 (+)
LP/J MGP_LPJ_G0031374
 protein coding gene Chr6:147704570-147723645 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031281
 protein coding gene Chr6:161256957-161277082 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031945
 protein coding gene Chr6:145814954-145834032 (+)
PWK/PhJ MGP_PWKPhJ_G0030268
 protein coding gene Chr6:139078980-139098112 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030092
 protein coding gene Chr6:144001930-144020932 (+)
WSB/EiJ MGP_WSBEiJ_G0030634
 protein coding gene Chr6:146427141-146447305 (+)



Homology
more
  • Human Ortholog
    CMAS, cytidine monophosphate N-acetylneuraminic acid synthetase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CMAS, cytidine monophosphate N-acetylneuraminic acid synthetase
  • Synonyms
    CSS
  • Links
    NCBI Gene ID: 55907
    neXtProt AC: NX_Q8NFW8
    UniProt: Q8NFW8

  • Chr Location
    12p12.1; chr12:22046218-22065674 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cmas mouse models

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 2 alleles in 2 genetic backgrounds
    8 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.
Mice homozygous for a conditional allele activated in renal cells exhibit focal segmental glomerulosclerosis with weight loss and premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    5
  • GO References
    3
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    935
  • Tissues
    102
  • cDNA Data
    152
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12764 NCBI Gene Model | MGI Sequence Detail 18973 C57BL/6J ±  kb
    transcript NM_009908 RefSeq | MGI Sequence Detail 1704 ZRU/MplStud  
    polypeptide Q99KK2 UniProt | EBI | MGI Sequence Detail 432 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 153
      cDNA 152
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-34164, MGI:106470, MGI:2141663
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 3
      Phenotypes 8
    • Earliest
      J:44483 Brady KP, et al., Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis. Genome Res. 1997 Nov;7(11):1085-93
    • Latest
      J:286022 Niculovic KM, et al., Podocyte-Specific Sialylation-Deficient Mice Serve as a Model for Human FSGS. J Am Soc Nephrol. 2019 Jun;30(6):1021-1035
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory