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Abca3 Gene Detail
Summary
  • Symbol
    Abca3
  • Name
    ATP-binding cassette, sub-family A member 3
  • Synonyms
    1810036E22Rik, Abc3, ABC-C
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351617
    NCBI Gene: 27410
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:24570997-24629178 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 12.38 cM, cytoband A3.3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1750 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351617
 protein coding gene Chr17:24570924-24629178 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023296
 protein coding gene Chr17:23331959-23391041 (+)
A/J MGP_AJ_G0023256
 protein coding gene Chr17:22705573-22763754 (+)
AKR/J MGP_AKRJ_G0023223
 protein coding gene Chr17:22773644-22838250 (+)
BALB/cJ MGP_BALBcJ_G0023261
 protein coding gene Chr17:22887422-22945032 (+)
C3H/HeJ MGP_C3HHeJ_G0023021
 protein coding gene Chr17:23120683-23183842 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023704
 protein coding gene Chr17:24358985-24419986 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021181
 protein coding gene Chr17:20170518-20228313 (+)
CAST/EiJ MGP_CASTEiJ_G0022523
 protein coding gene Chr17:22957798-23022831 (+)
CBA/J MGP_CBAJ_G0022997
 protein coding gene Chr17:25192351-25261546 (+)
DBA/2J MGP_DBA2J_G0023126
 protein coding gene Chr17:22286013-22344594 (+)
FVB/NJ MGP_FVBNJ_G0023096
 protein coding gene Chr17:22001458-22065372 (+)
LP/J MGP_LPJ_G0023203
 protein coding gene Chr17:23638773-23698557 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023115
 protein coding gene Chr17:24907034-24981114 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023742
 protein coding gene Chr17:23050962-23115298 (+)
PWK/PhJ MGP_PWKPhJ_G0022272
 protein coding gene Chr17:21041875-21101485 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022091
 protein coding gene Chr17:21071047-21143076 (+)
WSB/EiJ MGP_WSBEiJ_G0022586
 protein coding gene Chr17:23115490-23179113 (+)



Homology
more
  • Human Ortholog
    ABCA3, ATP binding cassette subfamily A member 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCA3, ATP binding cassette subfamily A member 3
  • Synonyms
    ABC3, ABC-C, EST111653, LBM180, SMDP3
  • Links
    NCBI Gene ID: 21
    neXtProt AC: NX_Q99758
    UniProt: Q99758

  • Chr Location
    16p13.3; chr16:2275881-2340746 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Abca3 mouse models; 1 with human ABCA3 associations

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

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 5 alleles in 4 genetic backgrounds
    5 images
    17 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 homozygous for a null mutation display neonatal lethality, respiratory failure, and severely impaired surfactant secretion.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    57
  • GO References
    17
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
    1058
  • Tissues
    173
  • cDNA Data
    158
  • Literature Summary
    47
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 27410 NCBI Gene Model | MGI Sequence Detail 58182 C57BL/6J ±  kb
    transcript NM_013855 RefSeq | MGI Sequence Detail 6515 C57BL/6  
    polypeptide Q8R420 UniProt | EBI | MGI Sequence Detail 1704 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 163
      cDNA 159
      Primer pair 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1916408
    References
    more
    • Summaries
      All 96
      Developmental Gene Expression 47
      Diseases 3
      Gene Ontology 17
      Phenotypes 17
    • Earliest
      J:60841 Schriml LM, et al., Identification of 18 mouse ABC genes and characterization of the ABC superfamily in Mus musculus. Genomics. 2000 Feb 15;64(1):24-31
    • Latest
      J:354192 He H, et al., PRDM3/16 regulate chromatin accessibility required for NKX2-1 mediated alveolar epithelial differentiation and function. Nat Commun. 2024 Sep 16;15(1):8112
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory