About   Help   FAQ
Pkdcc Gene Detail
Summary
  • Symbol
    Pkdcc
  • Name
    protein kinase domain containing, cytoplasmic
  • Synonyms
    Adtk1, ESTM17, MAd1, Vlk
  • Feature Type
    protein coding gene
  • IDs
    MGI:2147077
    NCBI Gene: 106522
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:83522721-83532499 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 52.25 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    95 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2147077
 protein coding gene Chr17:83522708-83532499 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024071
 protein coding gene Chr17:86285043-86296625 (+)
A/J MGP_AJ_G0024030
 protein coding gene Chr17:83562619-83572346 (+)
AKR/J MGP_AKRJ_G0023999
 protein coding gene Chr17:84925269-84935024 (+)
BALB/cJ MGP_BALBcJ_G0024031
 protein coding gene Chr17:83423836-83433695 (+)
C3H/HeJ MGP_C3HHeJ_G0023796
 protein coding gene Chr17:85759946-85770340 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024476
 protein coding gene Chr17:89379374-89390854 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021915
 protein coding gene Chr17:78800953-78810649 (+)
CAST/EiJ MGP_CASTEiJ_G0023275
 protein coding gene Chr17:86474482-86485375 (+)
CBA/J MGP_CBAJ_G0023770
 protein coding gene Chr17:93048009-93060508 (+)
DBA/2J MGP_DBA2J_G0023898
 protein coding gene Chr17:82035545-82045620 (+)
FVB/NJ MGP_FVBNJ_G0023864
 protein coding gene Chr17:81547479-81558457 (+)
LP/J MGP_LPJ_G0023982
 protein coding gene Chr17:87010406-87021667 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023892
 protein coding gene Chr17:93193777-93204911 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024521
 protein coding gene Chr17:85398517-85408859 (+)
PWK/PhJ MGP_PWKPhJ_G0023020
 protein coding gene Chr17:81612906-81664395 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022831
 protein coding gene Chr17:82197655-82209827 (+)
WSB/EiJ MGP_WSBEiJ_G0023342
 protein coding gene Chr17:86253752-86264783 (+)



Homology
more
  • Human Ortholog
    PKDCC, protein kinase domain containing, cytoplasmic
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PKDCC, protein kinase domain containing, cytoplasmic
  • Synonyms
    RLSDF, SGK493, Vlk
  • Links
    NCBI Gene ID: 91461
    neXtProt AC: NX_Q504Y2
    UniProt: Q504Y2

  • Chr Location
    2p21; chr2:42048021-42058517 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    64 phenotypes from 5 alleles in 5 genetic backgrounds
    9 phenotypes from multigenic genotypes
    11 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.
Homozygous null mutants die on postnatal day P0, apparently due to ineffective respiration. They exhibit shortening of all the long bones of the fore- and hindlimbs, cleft palate, sternal dysraphia and deficient mineralization or other anomalies of multiple bones throughout the body.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    8
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
    887
  • Tissues
    100
  • cDNA Data
    64
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024247 Ensembl Gene Model | MGI Sequence Detail 9779 C57BL/6J ±  kb
    transcript ENSMUST00000170794 Ensembl | MGI Sequence Detail 2446 Not Applicable  
    polypeptide ENSMUSP00000129238 Ensembl | MGI Sequence Detail 492 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 73
      cDNA 64
      Primer pair 7
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-28126, MGI:104832, MGI:2146795
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 15
      Gene Ontology 8
      Phenotypes 11
    • Earliest
      J:28401 Bettenhausen B, et al., Efficient isolation of novel mouse genes differentially expressed in early postimplantation embryos. Genomics. 1995 Aug 10;28(3):436-41
    • Latest
      J:346628 Mohammed J, et al., A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis. Elife. 2024 Mar 14;13
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory