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Abcc6 Gene Detail
Summary
  • Symbol
    Abcc6
  • Name
    ATP-binding cassette, sub-family C (CFTR/MRP), member 6
  • Synonyms
    DCC, Dyscalc1, Mrp6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351634
    NCBI Gene: 27421
  • Gene Overview
    MyGene.info: ABCC6
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:45974110-46030489 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 29.64 cM, cytoband B3
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    829 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 Chr7:45967555-46030489 (-)
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
    8
  • Human Ortholog
    ABCC6, ATP binding cassette subfamily C member 6
    Orthology source: HomoloGene, HGNC
  • 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; chr16:16149565-16223616 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Abcc6 mouse models; 1 with human ABCC6 associations

Human Disease Mouse Models
      
IDs
View 2 models
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
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  • Phenotype Summary
    14 phenotypes from 9 alleles in 19 genetic backgrounds
    5 phenotypes from multigenic genotypes
    49 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.
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
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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 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 27421 NCBI Gene Model | MGI Sequence Detail 56380 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
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000003562 multidrug resistance-associated protein 6
    • InterPro Domains
      IPR003593 AAA+ ATPase domain
      IPR017871 ABC transporter, conserved site
      IPR003439 ABC transporter-like
      IPR011527 ABC transporter type 1, transmembrane domain
      IPR036640 ABC transporter type 1, transmembrane domain superfamily
      IPR030239 Multidrug resistance-associated protein 6
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 23

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:892987
    References
    more
    • Summaries
      All 83
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 6
      Phenotypes 49
    • 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:265687 Kauffenstein G, et al., Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum. J Invest Dermatol. 2018 Aug;138(8):1862-1870

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory