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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
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:41686329-41704334 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 19.86 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    90 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1346053
protein coding gene Chr6:41686329-41704339 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030634
protein coding gene Chr6:40203362-40221887 (-)
A/J MGP_AJ_G0030607
protein coding gene Chr6:38455608-38473102 (-)
AKR/J MGP_AKRJ_G0030532
protein coding gene Chr6:39700407-39717743 (-)
BALB/cJ MGP_BALBcJ_G0030617
protein coding gene Chr6:38661027-38678267 (-)
C3H/HeJ MGP_C3HHeJ_G0030330
protein coding gene Chr6:39724022-39742450 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031071
protein coding gene Chr6:41224423-41243196 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028278
protein coding gene Chr6:36229641-36247176 (-)
CAST/EiJ MGP_CASTEiJ_G0029734
protein coding gene Chr6:39532520-39550511 (-)
CBA/J MGP_CBAJ_G0030306
protein coding gene Chr6:42923638-42942517 (-)
DBA/2J MGP_DBA2J_G0030450
protein coding gene Chr6:38284218-38301932 (-)
FVB/NJ MGP_FVBNJ_G0030406
protein coding gene Chr6:38006240-38024196 (-)
LP/J MGP_LPJ_G0030538
protein coding gene Chr6:40205762-40226144 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030440
protein coding gene Chr6:45155949-45174304 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031101
protein coding gene Chr6:39671830-39689929 (-)
PWK/PhJ MGP_PWKPhJ_G0029446
protein coding gene Chr6:37905932-37923889 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029283
protein coding gene Chr6:39286437-39308403 (-)
WSB/EiJ MGP_WSBEiJ_G0029810
protein coding gene Chr6:39584327-39602660 (-)



Homology
more
  • Human Ortholog
    KEL, Kell metallo-endopeptidase (Kell blood group)
  • Vertebrate Orthologs
    8
  • Human Ortholog
    KEL, Kell metallo-endopeptidase (Kell blood group)
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CD238, ECE3
  • Links
    NCBI Gene ID: 3792
    neXtProt AC: NX_P23276
    UniProt: P23276

  • Chr Location
    7q34; chr7:142941114-142962416 (-)  GRCh38.p7

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
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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population 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
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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 23925 NCBI Gene Model | MGI Sequence Detail 18006 C57BL/6J ±  kb
transcript NM_032540 RefSeq | MGI Sequence Detail 2524 C57BL/6  
polypeptide Q9EQF2 UniProt | EBI | MGI Sequence Detail 713 Not Applicable  
For the selected sequence
Protein
Information
less
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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory