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Krt14 Gene Detail
Summary
  • Symbol
    Krt14
  • Name
    keratin 14
  • Synonyms
    Cytokeratin 14, epidermolysis bullosa simplex, Dowling-Meara, Koebner, K14, Krt-1.14, Krt1-14
  • Feature Type
    protein coding gene
  • IDs
    MGI:96688
    NCBI Gene: 16664
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:100093988-100098336 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 11, 63.43 cM, cytoband D
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    58 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96688
protein coding gene Chr11:100093988-100098374 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019145
protein coding gene Chr11:102955123-102959485 (-)
A/J MGP_AJ_G0019113
protein coding gene Chr11:98610750-98615112 (-)
AKR/J MGP_AKRJ_G0019082
protein coding gene Chr11:101653116-101657502 (-)
BALB/cJ MGP_BALBcJ_G0019087
protein coding gene Chr11:99125224-99129586 (-)
C3H/HeJ MGP_C3HHeJ_G0018896
protein coding gene Chr11:101859406-101863768 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019536
protein coding gene Chr11:106122557-106126919 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017163
protein coding gene Chr11:96062615-96066965 (-)
CAST/EiJ MGP_CASTEiJ_G0018450
protein coding gene Chr11:102839735-102845117 (-)
CBA/J MGP_CBAJ_G0018865
protein coding gene Chr11:110555447-110559809 (-)
DBA/2J MGP_DBA2J_G0018978
protein coding gene Chr11:98184451-98188813 (-)
FVB/NJ MGP_FVBNJ_G0018967
protein coding gene Chr11:97686622-97691008 (-)
LP/J MGP_LPJ_G0019046
protein coding gene Chr11:103495379-103499741 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018998
protein coding gene Chr11:110178378-110182740 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019574
protein coding gene Chr11:102030446-102034808 (-)
PWK/PhJ MGP_PWKPhJ_G0018213
protein coding gene Chr11:99212471-99216934 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018005
protein coding gene Chr11:101738849-101743226 (-)
WSB/EiJ MGP_WSBEiJ_G0018499
protein coding gene Chr11:101998562-102002909 (-)



Homology
more
  • Human Ortholog
    KRT14, keratin 14
  • Vertebrate Orthologs
    12
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KRT14, keratin 14
  • Synonyms
    CK14, EBS1, EBS1A, EBS1B, EBS1C, EBS1D, EBS3, EBS4, K14, NFJ
  • Links
    NCBI Gene ID: 3861
    neXtProt AC: NX_P02533
    UniProt: P02533

  • Chr Location
    17q21.2; chr17:41582279-41586895 (-)  GRCh38

Human Diseases
more
  • Diseases
    2 with Krt14 mouse models; 3 with human KRT14 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 3 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    22 phenotypes from 5 alleles in 5 genetic backgrounds
    86 phenotypes from multigenic genotypes
    7 images
    71 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.
Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur.
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 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
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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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16664 NCBI Gene Model | MGI Sequence Detail 4349 C57BL/6J ±  kb
    transcript NM_016958 RefSeq | MGI Sequence Detail 1675 ZRU/MplStud  
    polypeptide Q61781 UniProt | EBI | MGI Sequence Detail 484 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 137
      Genomic 3
      cDNA 120
      Primer pair 12
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-11632, MGD-MRK-11643, MGI:2144242
    References
    more
    • Summaries
      All 594
      Developmental Gene Expression 464
      Diseases 4
      Gene Ontology 23
      Phenotypes 71
    • Earliest
      J:30054 Knapp B, et al., Three cDNA sequences of mouse type I keratins. Cellular localization of the mRNAs in normal and hyperproliferative tissues. J Biol Chem. 1987 Jan 15;262(2):938-45
    • Latest
      J:346597 Seo S, et al., Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity. Invest Ophthalmol Vis Sci. 2024 Mar 5;65(3):30

    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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    last database update
    04/16/2024
    MGI 6.23
    The Jackson Laboratory