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ABCA12 Gene

protein-coding   GIFtS: 61
GCID: GC02M215796

ATP-Binding Cassette, Sub-Family A (ABC1), Member 12

(Previous names: ichthyosis congenita II, lamellar ichthyosis B)
(Previous symbol: ICR2B)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family A (ABC1), Member 121 2     Ichthyosis Congenita II, Lamellar Ichthyosis B1
ICR2B1 2 5     ATP-Binding Cassette Sub-Family A Member 122
ATP-Binding Cassette Transporter 122 3     ABC123
ARCI4A2 5     ATP-Binding Cassette 123
ARCI4B2 5     EC 3.6.38
LI22 5     EC 3.6.3.258

External Ids:    HGNC: 146371   Entrez Gene: 261542   Ensembl: ENSG000001444527   OMIM: 6078005   UniProtKB: Q86UK03   

Export aliases for ABCA12 gene to outside databases

Previous GC identifers: GC02M213960 GC02M214520 GC02M215760 GC02M215998 GC02M215621 GC02M215504 GC02M207652


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABCA12 Gene:
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC)
transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are
divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein
is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular
eukaryotes. Alternative splicing of this gene results in multiple transcript variants. (provided by RefSeq, Jul
2008)

GeneCards Summary for ABCA12 Gene:
ABCA12 (ATP-binding cassette, sub-family A (ABC1), member 12) is a protein-coding gene. Diseases associated with ABCA12 include ichthyosis, congenital, autosomal recessive 4a, and ichthyosis lamellar 2. GO annotations related to this gene include ATPase activity. An important paralog of this gene is ABCA1.

UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0
Function: Probable transporter involved in lipid homeostasis

Gene Wiki entry for ABCA12 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCA12 gene promoter:
         c-Fos   Nkx3-1   Nkx3-1 v4   AP-1   Nkx3-1 v1   E4BP4   GATA-1   Nkx3-1 v2   Nkx3-1 v3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCA12 promoter sequence
   Search Chromatin IP Primers for ABCA12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCA12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q34   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q34

ABCA12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCA12 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M215796:  view genomic region     (about GC identifiers)

Start:
215,796,266 bp from pter      End:
216,003,151 bp from pter
Size:
206,886 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family A member 12  
Size: 2595 amino acids; 293237 Da
Sequence caution: Sequence=AAN40735.1; Type=Erroneous initiation;
Secondary accessions: Q53QE2 Q53S55 Q8IZW6 Q96JT3 Q9Y4M5
Alternative splicing: 2 isoforms:  Q86UK0-1   Q86UK0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ABCA12: NX_Q86UK0

Explore proteomics data for ABCA12 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser125, Thr126, Asn156, Asn174, Asn214, Asn275, Asn333, Asn367, Asn383, Asn412,
                                 Asn435, Asn528, Asn543, Asn577, Asn608, Asn623, Asn648, Asn752, Asn826, Asn920 (see all 37)
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ABCA12 (Q86UK0)
     NGAGKTT  GPNGAGKT  LLGPNGAGK 


    See ABCA12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_056472.2  NP_775099.2  

    ENSEMBL proteins: 
     ENSP00000272895   ENSP00000374312   ENSP00000400231  
    Reactome Protein details: Q86UK0

    ABCA12 Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for ABCA12

    ABCA12 Assay Products:

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    Cloud-Clone Corp. CLIAs for ABCA12


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ABCA: ATP binding cassette transporters / subfamily A

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCA12
    ABCA subfamily

    5 InterPro protein domains:
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR026082 ABC_A
     IPR017871 ABC_transporter_CS

    Graphical View of Domain Structure for InterPro Entry Q86UK0

    ProtoNet protein and cluster: Q86UK0

    UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0
    Domain: Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring
    domain and an ATP binding cassette (ABC) domain (By similarity)
    Similarity: Belongs to the ABC transporter superfamily. ABCA family
    Similarity: Contains 2 ABC transporter domains


    ABCA12 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCAC_HUMAN, Q86UK0
    Function: Probable transporter involved in lipid homeostasis

         Enzyme Numbers (IUBMB): EC 3.6.32 EC 3.6.3.252

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding NAS12697999
    GO:0016887ATPase activity IEA--
    GO:0017111nucleoside-triphosphatase activity ----
         
    ABCA12 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Abca12):
     behavior/neurological  cardiovascular system  cellular  craniofacial  growth/size/body 
     homeostasis/metabolism  integument  mortality/aging  respiratory system 

    ABCA12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ABCA12: Abca12tm1Shzu Abca12tm1Lex

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCA12
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABCA12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCA12
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCA12

    miRNA
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    miRTarBase miRNAs that target ABCA12:
    hsa-mir-335-5p (MIRT017104)

    Block miRNA regulation of human, mouse, rat ABCA12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABCA12 (see all 11):
    hsa-miR-362-3p hsa-miR-409-3p hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-3647-3p hsa-miR-1279 hsa-miR-329
    SwitchGear 3'UTR luciferase reporter plasmidABCA12 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ABCA12
    Predesigned siRNA for gene silencing in human, mouse, rat ABCA12

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): ABCA12 (NM_173076)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCA12
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCA12

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA12


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ABCAC_HUMAN, Q86UK0: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    mitochondrion2
    golgi apparatus1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005829cytosol IEA--
    GO:0016021integral component of membrane NAS12697999

    ABCA12 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABCA12 About    
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.69
    ABCA transporters in lipid homeostasis0.00
    ABC transporters0.69
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ABCA12
        ABCA transporters in lipid homeostasis


    1 Kegg Pathway  (Kegg details for ABCA12):
        ABC transporters


    ABCA12 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCA12: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ABCA12

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ABCA12 (ENSP000002728954) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCG2ENSP000002376124STRING: ENSP00000237612
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006869lipid transport NAS12915478
    GO:0019725cellular homeostasis NAS12697999
    GO:0030216keratinocyte differentiation ----
    GO:0031424keratinization IEA--
    GO:0035627ceramide transport IEA--

    ABCA12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ABCA12 (ABCAC)

    1 Novoseek inferred chemical compound relationship for ABCA12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 50.1 25 16847209 (2), 16007249 (2), 18341575 (2), 20166009 (1) (see all 9)



    ABCA12 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ABCA12 gene (2 alternative transcripts): 
    NM_015657.3  NM_173076.2  

    Unigene Cluster for ABCA12:

    ATP-binding cassette, sub-family A (ABC1), member 12
    Hs.134585  [show with all ESTs]
    Unigene Representative Sequence: NM_173076
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000272895(uc002vev.3 uc002vew.3 uc010zjn.2) ENST00000389661
    ENST00000412081
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ABCA12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABCA12 (see all 11):
    hsa-miR-362-3p hsa-miR-409-3p hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-3647-3p hsa-miR-1279 hsa-miR-329
    SwitchGear 3'UTR luciferase reporter plasmidABCA12 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ABCA12
    Clone
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    OriGene clones in human, mouse for ABCA12 (see all 9)
    OriGene ORF clones in mouse, rat for ABCA12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ABCA12 (NM_173076)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCA12
    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat ABCA12

    Additional mRNA sequence: 

    AF418105.1 AK096597.1 AK123578.1 AL080207.1 AY033486.1 AY219711.1 BC144073.1 

    4 DOTS entries:

    DT.40283835  DT.102842413  DT.100661918  DT.40236619 

    20 AceView cDNA sequences:

    AK096597 AY033486 NM_173076 CR609974 AF418105 AY219711 NM_015657 AA487007 
    BX376131 BM745367 CD627181 AK123578 AI081199 CN479111 AL080207 CD627183 
    CB243323 CF887579 CD627187 CD627179 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ABCA12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGTTTGTC
    ABCA12 Expression
    About this image

    ABCA12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCA12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.134585

    UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0
    Tissue specificity: Mainly expressed in the stomach, placenta, testis and fetal brain

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCA12: 
              Drug Transporters in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA12

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCA12 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abca121 , 5 ATP-binding cassette, sub-family A (ABC1), member 121, 5 86.3(n)1
    89.66(a)1
      1 (35.81 cM)5
    745911  NM_175210.31  NP_780419.21 
     712430905 
    chicken
    (Gallus gallus)
    Aves ABCA121 ATP-binding cassette, sub-family A (ABC1), member 12 66.58(n)
    60.58(a)
      424011  XM_421867.4  XP_421867.4 
    lizard
    (Anolis carolinensis)
    Reptilia ABCA126
    ATP-binding cassette, sub-family A (ABC1), member ...
    56(a)
    1 ↔ 1
    1(116555011-116742807)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017314101 uncharacterized LOC101731410 57.38(n)
    52.1(a)
      101731410  XM_004918259.1  XP_004918316.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abca121 ATP-binding cassette, sub-family A (ABC1), member 12 55.8(n)
    49(a)
      558335  XM_681540.6  XP_686632.6 
    worm
    (Caenorhabditis elegans)
    Secernentea abt-46
    Protein ABT-4 (abt-4) mRNA, complete cds
    27(a)
    1 ↔ 1
    V(323777-330727) WBGene00000022
    rice
    (Oryza sativa)
    Liliopsida Os.87722 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.69(n)    AK101910.1 


    ENSEMBL Gene Tree for ABCA12 (if available)
    TreeFam Gene Tree for ABCA12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCA12 gene
    ABCA12  ABCA102  ABCA132  ABCA32  ABCA82  ABCA42  ABCA72  ABCA22  
    ABCA92  ABCA62  ABCA52  
    12 SIMAP similar genes for ABCA12 using alignment to 2 protein entries:     ABCAC_HUMAN (see all proteins):
    DKFZp547P193    ABC2    ABCA7    ABCA2    DKFZp434E1030    ABCA13
    ABC1    ABCA4    ABCA1    ABCG2    ABCA3    DKFZp686K07118

    ABCA12 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ABCA12
    PGOHUM00000246576


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ABCA12 (see all 4499)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs7260701,2,,4
    C,F,HIchthyosis, congenital, autosomal recessive 4B (ARCI4B)4 pathogenic1215198749(-) AAAAGG/AATATT 4 /N /D mis1 ese318Minor allele frequency- A:0.02NS EA NA EU 7785
    rs289405681,2,,4
    CIchthyosis, congenital, autosomal recessive 4A (ARCI4A)4 pathogenic1215228973(-) GCTACA/GGCATT 4 S G mis1 ese30--------
    rs289402691,2,,4
    CIchthyosis, congenital, autosomal recessive 4A (ARCI4A)4 pathogenic1215236710(-) GCCCAA/GTGGAG 4 N S mis1 ese30--------
    VAR_0670814
    Ichthyosis, congenital, autosomal recessive 4A (ARCI4A)4--see VAR_0670812 G V mis40--------
    VAR_0670754
    Ichthyosis, congenital, autosomal recessive 4A (ARCI4A)4--see VAR_0670752 T P mis40--------
    VAR_0670794
    Ichthyosis, congenital, autosomal recessive 4A (ARCI4A)4--see VAR_0670792 W S mis40--------
    VAR_0670824
    Ichthyosis, congenital, autosomal recessive 4A (ARCI4A)4--see VAR_0670822 P L mis40--------
    VAR_0670784
    Ichthyosis, congenital, autosomal recessive 4B (ARCI4B)4--see VAR_0670782 G R mis40--------
    VAR_0670804
    Ichthyosis, congenital, autosomal recessive 4A (ARCI4A)4--see VAR_0670802 I T mis40--------
    VAR_0670834
    Ichthyosis, congenital, autosomal recessive 4A (ARCI4A)4--see VAR_0670832 T K mis40--------

    HapMap Linkage Disequilibrium report for ABCA12 (215796266 - 216003151 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ABCA12:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675366CNV Deletion23128226
    nsv875833CNV Gain21882294
    nsv875834CNV Gain21882294
    nsv875835CNV Gain21882294

    Human Gene Mutation Database (HGMD): ABCA12
    Locus Specific Mutation Databases (LSDB): ABCA12

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCA12
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCA12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607800   
    OMIM disorders: 601277  242500  
    UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0
  • Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]: A form of autosomal recessive
    congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the
    epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar
    ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within
    the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often
    associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the
    entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on
    an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]: A rare, very severe form of
    congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries
    out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial
    features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils.
    Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into
    infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ABCA12 (see all 22):    
    About MalaCards
    ichthyosis, congenital, autosomal recessive 4a    ichthyosis lamellar 2    harlequin type ichthyosis    ichthyosis, autosomal recessive 4b
    abca12-related autosomal recessive congenital ichthyosis    ichthyosis, congenital, autosomal recessive 1    ichthyosis, congenital, autosomal recessive 2    autosomal recessive congenital ichthyosis
    ichthyosis vulgaris    ectropion    congenital ichthyosiform erythroderma    tangier disease
    keratoderma    skin disease    alopecia    pneumonia
    pancreatic cancer    tuberculosis    pancreatitis    alzheimer's disease

    2 diseases from the University of Copenhagen DISEASES database for ABCA12:
    Congenital ichthyosiform erythroderma     Ectropion

    ABCA12 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for ABCA12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    harlequin ichthyosis 98.6 11 16847209 (1), 19664001 (1), 16675967 (1), 19429679 (1) (see all 10)
    ichthyosis 78.2 1 18341575 (1)
    skin diseases 58.3 4 19429679 (1), 17611579 (1), 15756637 (1), 16902423 (1)

    GeneTests: ABCA12
    GeneReviews: ABCA12
    Genetic Association Database (GAD): ABCA12
    Human Genome Epidemiology (HuGE) Navigator: ABCA12 (3 documents)

    Export disorders for ABCA12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABCA12 gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with ABCA12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. (PubMed id 12915478)1, 2, 3, 9 Lefevre C.... Fischer J. (Hum. Mol. Genet. 2003)
    2. Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. (PubMed id 12697999)1, 2, 9 Annilo T.... Rosier M. (Cytogenet. Genome Res. 2002)
    3. ABCA12 is the major harlequin ichthyosis gene. (PubMed id 16902423)1, 2, 9 Thomas A.C.... Kelsell D.P. (J. Invest. Dermatol. 2006)
    4. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. (PubMed id 15756637)1, 2, 9 Kelsell D.P....O'Toole E.A. (Am. J. Hum. Genet. 2005)
    5. Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. (PubMed id 22257947)1, 2 Nawaz S.... Klar J. (Eur. J. Dermatol. 2012)
    6. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. (PubMed id 20672373)1, 2 Akiyama M. (Hum. Mutat. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. (PubMed id 19262603)1, 2 Sakai K.... Shimizu H. (J. Invest. Dermatol. 2009)
    9. Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. (PubMed id 17508018)1, 2 Natsuga K.... Shimizu H. (J. Invest. Dermatol. 2007)
    10. No genetic association between ATP binding cassette proteins and Japanese sporadic Alzheimer's disease. (PubMed id 15980630)1, 4 Ohkubo T....Arai H. (Dement Geriatr Cogn Disord 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26154 HGNC: 14637 AceView: ABCA12 Ensembl:ENSG00000144452 euGenes: HUgn26154
    ECgene: ABCA12 Kegg: 26154 H-InvDB: ABCA12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABCA12 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ABCA12[genesymbol]
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q86UK0

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCA12 gene:
    Search GeneIP for patents involving ABCA12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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