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Abcc6 Gene Detail
Summary
  • Symbol
    Abcc6
  • Name
    ATP-binding cassette, sub-family C member 6
  • Synonyms
    DCC, Dyscalc1, Mrp6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351634
    NCBI Gene: 27421
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:45625804-45679915 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 29.64 cM, cytoband B3
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    781 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351634
 protein coding gene Chr7:45616979-45679915 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032257
 protein coding gene Chr7:46304827-46370171 (-)
A/J MGP_AJ_G0032236
 protein coding gene Chr7:45376690-45431946 (-)
AKR/J MGP_AKRJ_G0032172
 protein coding gene Chr7:46656109-46717629 (-)
BALB/cJ MGP_BALBcJ_G0032248
 protein coding gene Chr7:45377941-45433652 (-)
C3H/HeJ MGP_C3HHeJ_G0031963
 protein coding gene Chr7:47137728-47209635 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032740
 protein coding gene Chr7:48579035-48649833 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029754
 protein coding gene Chr7:47923577-47978953 (-)
CAST/EiJ MGP_CASTEiJ_G0031291
 protein coding gene Chr7:38577114-38642418 (-)
CBA/J MGP_CBAJ_G0031928
 protein coding gene Chr7:50197515-50272689 (-)
DBA/2J MGP_DBA2J_G0032085
 protein coding gene Chr7:45058865-45113149 (-)
FVB/NJ MGP_FVBNJ_G0032037
 protein coding gene Chr7:44841260-44897846 (-)
LP/J MGP_LPJ_G0032164
 protein coding gene Chr7:47021028-47081057 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032074
 protein coding gene Chr7:48865304-48922951 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032755
 protein coding gene Chr7:45861494-45922167 (-)
PWK/PhJ MGP_PWKPhJ_G0031014
 protein coding gene Chr7:38423336-38485373 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030852
 protein coding gene Chr7:33877398-33942835 (-)
WSB/EiJ MGP_WSBEiJ_G0031409
 protein coding gene Chr7:46357319-46417502 (-)



Homology
more
  • Human Ortholog
    ABCC6, ATP binding cassette subfamily C member 6
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCC6, ATP binding cassette subfamily C member 6
  • Synonyms
    ABC34, ARA, EST349056, GACI2, MLP1, MOATE, MOAT-E, MRP6, PXE, PXE1, URG7
  • Links
    NCBI Gene ID: 368
    neXtProt AC: NX_O95255
    UniProt: O95255

  • Chr Location
    16p13.11; chr16:16149565-16223522 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Abcc6 mouse models; 3 with human ABCC6 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 9 alleles in 19 genetic backgrounds
    5 phenotypes from multigenic genotypes
    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.
Homozygous null mice display patchy mineralization which may include the capsule surrounding the sinuses of vibrissae, medium sized arteries, skin, retina, kidney, and interscapular brown fat. Strain differences at this locus may lead to altered susceptibility to cardiac calcinosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    61
  • GO References
    11
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
    831
  • Tissues
    112
  • cDNA Data
    23
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 27421 NCBI Gene Model | MGI Sequence Detail 54112 C57BL/6J ±  kb
    transcript NM_018795 RefSeq | MGI Sequence Detail 4958 Not Specified  
    polypeptide Q9R1S7 UniProt | EBI | MGI Sequence Detail 1498 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 23
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:892987
    References
    more
    • Summaries
      All 106
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 11
      Phenotypes 71
    • Earliest
      J:33253 Ivandic BT, et al., A locus on chromosome 7 determines myocardial cell necrosis and calcification (dystrophic cardiac calcinosis) in mice. Proc Natl Acad Sci U S A. 1996 May 28;93(11):5483-8
    • Latest
      J:343494 Casemayou A, et al., Abcc6 deficiency prevents rhabdomyolysis-induced acute kidney injury. Sci Rep. 2023 Dec 6;13(1):21513
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory