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Fam20c Gene Detail
Summary
  • Symbol
    Fam20c
  • Name
    FAM20C, golgi associated secretory pathway kinase
  • Synonyms
    DMP4, MGC:7673
  • Feature Type
    protein coding gene
  • IDs
    MGI:2136853
    NCBI Gene: 80752
  • Alliance
    gene page
  • Transcription Start Sites
    25 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:138740836-138795818 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 77.19 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1651 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2136853
 protein coding gene Chr5:138740269-138795832 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030272
 protein coding gene Chr5:143666085-143726748 (+)
A/J MGP_AJ_G0030241
 protein coding gene Chr5:137595439-137652553 (+)
AKR/J MGP_AKRJ_G0030173
 protein coding gene Chr5:141883394-141940586 (+)
BALB/cJ MGP_BALBcJ_G0030258
 protein coding gene Chr5:138837718-138894484 (+)
C3H/HeJ MGP_C3HHeJ_G0029969
 protein coding gene Chr5:142659665-142717291 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030703
 protein coding gene Chr5:148997981-149057146 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027921
 protein coding gene Chr5:131461735-131516715 (+)
CAST/EiJ MGP_CASTEiJ_G0029374
 protein coding gene Chr5:142045061-142104066 (+)
CBA/J MGP_CBAJ_G0029939
 protein coding gene Chr5:155110129-155173598 (+)
DBA/2J MGP_DBA2J_G0030089
 protein coding gene Chr5:137397759-137453522 (+)
FVB/NJ MGP_FVBNJ_G0030044
 protein coding gene Chr5:136499589-136558175 (+)
LP/J MGP_LPJ_G0030175
 protein coding gene Chr5:144296735-144355533 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030075
 protein coding gene Chr5:157837688-157896665 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030743
 protein coding gene Chr5:141682651-141739100 (+)
PWK/PhJ MGP_PWKPhJ_G0029089
 protein coding gene Chr5:136401091-136461445 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028925
 protein coding gene Chr5:139365195-139430910 (+)
WSB/EiJ MGP_WSBEiJ_G0029448
 protein coding gene Chr5:142443144-142501861 (+)



Homology
more
  • Human Ortholog
    FAM20C, FAM20C golgi associated secretory pathway kinase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FAM20C, FAM20C golgi associated secretory pathway kinase
  • Synonyms
    DMP-4, DMP4, G-CK, GEF-CK, RNS
  • Links
    NCBI Gene ID: 56975
    neXtProt AC: NX_Q8IXL6
    UniProt: Q8IXL6

  • Chr Location
    7p22.3; chr7:192571-260772 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Fam20c mouse models; 1 with human FAM20C associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
    90 phenotypes from 2 alleles in 3 genetic backgrounds
    6 images
    16 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 with global conditional deletion of this gene display infertility, dwarfism, delayed bone ossification, reduced bone mineralization, fragile skeletons, hypophosphatemic rickets, and impaired osteoblast differentiation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    59
  • GO References
    16
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
membraneless 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
    922
  • Tissues
    89
  • cDNA Data
    112
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 80752 NCBI Gene Model | MGI Sequence Detail 54983 C57BL/6J ±  kb
    transcript NM_001359593 RefSeq | MGI Sequence Detail 3079 C57BL/6  
    polypeptide Q5MJS3 UniProt | EBI | MGI Sequence Detail 579 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 113
      cDNA 112
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2141281
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 16
      Phenotypes 16
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:332631 Koike T, et al., Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia. Nat Commun. 2022 Dec 26;13(1):7952
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory