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Kel Gene Detail
Summary
  • Symbol
    Kel
  • Name
    Kell blood group
  • Synonyms
    CD238
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346053
    NCBI Gene: 23925
Location & Maps
more
  • Sequence Map
    Chr6:41686330-41704339 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      18010 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 19.86 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    KEL, Kell blood group, metallo-endopeptidase
  • Vertebrate Orthologs
    8
  • Human Ortholog
    KEL, Kell blood group, metallo-endopeptidase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CD238, ECE3
  • Links
    NCBI Gene ID: 3792
    neXtProt AC: NX_P23276

  • Chr Location
    7q33; chr7:142941114-142962416 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    21 phenotypes from 1 allele in 1 genetic background
    13 phenotypes from multigenic genotypes
    4 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 null allele exhibit decreased heart rate, altered hematological parameters and ECG waveform features, decreased erythrocyte Mg2+ and K+ ion content, mild motor deficits, and giant axon changes with varying degrees of paranodal demyelination in the spinal cord and sciatic nerve.
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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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026360 VEGA Gene Model | MGI Sequence Detail 18010 C57BL/6J ±  kb
transcript OTTMUST00000065192 VEGA | MGI Sequence Detail 2530 Not Applicable  
polypeptide OTTMUSP00000032452 VEGA | MGI Sequence Detail 713 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    90 from dbSNP Build 142
  • PCR
Protein
Information
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Molecular
Reagents
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  • All nucleic 21
    cDNA 20
    Primer pair 1

    Microarray probesets 4
References
more
  • Summaries
    All 24
    Gene Ontology 7
    Phenotypes 4
  • Earliest
    J:69072 Lee S, et al., The mouse Kell blood group gene (Kel): cDNA sequence, genomic organization, expression, and enzymatic function. Immunogenetics. 2000 Nov;52(1-2):53-62
  • Latest
    J:206464 Zhu X, et al., Giant Axon Formation in Mice Lacking Kell, XK, or Kell and XK: Animal Models of McLeod Neuroacanthocytosis Syndrome. Am J Pathol. 2014 Mar;184(3):800-7

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
07/19/2016
MGI 6.04
The Jackson Laboratory