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ABCA12 Gene

protein-coding   GIFtS: 62

GC02M215504
ATP-binding cassette, sub-family A (ABC1), member 12
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ABC12 3
DKFZP434G232 1
DKFZp434G232 2
FLJ41584 2
ICR2B 1, 2, 5
LI2 1, 2, 5
Descriptions
ATP-binding cassette 12 3
ATP-binding cassette transporter 12 3
ATP-binding cassette, sub-family A (ABC1), member 12 2
ATP-binding cassette, sub-family A, member 12 2
ichthyosis congenita II, lamellar ichthyosis B 2
External Ids
HGNC: 146371
Entrez Gene: 261542
UniProtKB: Q86UK03
Ensembl: ENSG000001444527
Search outside databases for aliases for ABCA12 gene

Previous GC identifers: GC02M213960 GC02M214520 GC02M215760 GC02M215998 GC02M215621

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ABCA12:
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]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ABCA12 gene  

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)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M215504:     (about GC identifiers)

Start:
215,504,511 bp from pter
End:
215,711,396 bp from pter
Size:
206,886 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000002.10  NT_005403.16  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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; 293251 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q8IZW6 Q96JT3 Q9Y4M5
Alternative splicing: 2 isoforms:  Q86UK0-1   Q86UK0-2   (Additional isoforms seem to exist)

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000272895 ENSP00000374312 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (ABCA12)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane NAS12697999
    About this table

    Antibodies for ABCA12: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (ABCA12), each with their AbpromiseSM
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    Novus Biologicals Antibody for ABCA12

    Assays for ABCA12: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR003593 ATPase_AAA+_core
     IPR003439 ABC_transporter-like
     IPR017871 ABC_transporter_CS


       GeneDecks  ABCA12 for the domains selected above  
    About GeneDecksing

    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 an hydrophobic
    membrane-anchoring domain and an ATP binding cassette (ABC) domain (By similarity)
    Similarity: Belongs to the ABC transporter family. ABCA subfamily
    Similarity: Contains 2 ABC transporter domains

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ABCA12)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ABCA12)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_015657

                  Applied Biosystems Silencer® siRNAs for ABCA12

                  Sigma-Aldrich siRNA and siRNA Panels for ABCA12  
                         Sigma-Aldrich shRNA for ABCA12  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_015657
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_015657
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_015657 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_173076

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

    7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Abca12):

    craniofacialgrowth/sizehomeostasis/metabolismlethality-postnatallethality-prenatal/perinatal
    respiratory systemskin/coat/nails

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0005524 ATP binding NAS12697999
    GO:0016887 ATPase activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Kegg Pathway  (Kegg details for ABCA12):
     hsa02010 ABC transporters

       GeneDecks  ABCA12 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  ABCA12 


    3 Interacting proteins for ABCA12 (ENSP000002728953) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGM1ENSP000002067653STRING (score=.848)
    --ENSP000003667933STRING (score=.871)
    --ENSP000003700003STRING (score=.76)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006869 lipid transport NAS12915478
    GO:0019725 cellular homeostasis NAS12697999
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for ABCA12
    1 Novoseek chemical compound relationship for ABCA12 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 47.17 20 16847209 (2), 16007249 (2), 18341575 (2), 16481150 (1) (see all 6)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ABCA12)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ABCA12)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_015657

                  Sigma-Aldrich siRNA and siRNA Panels for ABCA12  
                         Sigma-Aldrich shRNA for ABCA12  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_015657  NM_173076  

    REFSEQ mRNAs for ABCA12 gene (2 alternative transcripts): 

    NM_015657.3   NM_173076.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_015657  NM_173076  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_015657
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_015657
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_015657 

    Additional cDNA sequence: 

    AF418105.1 AK096597.1 AK123578.1 AL080207.1 AY033486.1 AY219711.1 BC144073.1 CR609974.1 

    4 DOTS entries:

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

    20 AceView cDNA sequences:

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

    highest scoring ESTs for ABCA12:

    AL080207 AY219711 AA620593 AF418105 AI081199 AK096597 AK123578 AY033486 BE075509 BE144895 

    Unigene Cluster for ABCA12:

    ATP-binding cassette, sub-family A (ABC1), member 12
    Hs.134585  [show with all ESTs]
    Unigene Representative Sequence: NM_173076


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000272895  ENST00000389661  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ABCA12 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ABCA12

    1 / 2 / 3

    3 probe-sets matching ABCA12 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    31754_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AL080207 0.80 1.00 0.91 1

    215465_at2, 3 U133-A 1 1.00 1.00 -- -- AL080207 0.80 1.00 0.91 1

    215465_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: ACTGTTTGTC

    SOURCE GeneReport for Unigene cluster: Hs.134585

    Expression variation in blood from EXPOLDB for ABCA12

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for ABCA12 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ABCA121   -- ATP-binding cassette, sub-family A (ABC1), member 12 91.09(n)
    92.02(a)
    478900  XM_536058.2  XP_536058.2 
    chimpanzee
    (Pan troglodytes)
    ABCA121   -- ATP-binding cassette, sub-family A (ABC1), member 12 99.4(n)
    99.23(a)
    459924  XM_516070.2  XP_516070.2 
    mouse
    (Mus musculus)
    Abca121, 5 15
    ATP-binding cassette, sub-family A (ABC1), member 121, 5 86.3(n)1
    89.66(a)1
    745911  XM_001002308.21  XP_001002308.21 
     AF4204365  AK0287815  (see all 10)
    chicken
    (Gallus gallus)
    ABCA121   -- ATP-binding cassette, sub-family A (ABC1), member 12 67.17(n)
    62.32(a)
    424011  XM_421867.2  XP_421867.2 
    zebrafish
    (Danio rerio)
    abca121   -- ATP-binding cassette, sub-family A (ABC1), member 12 55.76(n)
    49.28(a)
    558335  XM_681540.3  XP_686632.3 
    About this table        Species with no ortholog for ABCA12

    ENSEMBL Gene Tree for ABCA12
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ABCA12 gene
    ABCA132  ABCA22  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/1208 NCBI SNPs in ABCA12 are shown (see all 1208 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 430)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs29489841,2
    A,C,F,H,O215713207(+) AGTACA/CCGCAT 1 -- ng314Minor allele frequency- C:0.12EU EA WA 410
    rs14646831,2
    A,C,F,H,O215605526(-) GACCTG/ATTTAA 2 -- ng31 int17Minor allele frequency- A:0.05EU EA WA NA 560
    rs14646821,2
    A,C,F,H,O215606089(-) TGCATT/CGTGAA 2 -- int1 ng317Minor allele frequency- C:0.05EU EA WA NA 562
    --
    rs21030901,2
    A,C,F,H215606627(-) ggccTA/GTGAAT 2 -- int1 ng314Minor allele frequency- G:0.05EU EA WA 414
    rs102068521,2
    A,C,F,H215606390(+) TTTTTT/CGTCAA 2 -- int1 ng31 trp37Minor allele frequency- C:0.27NA EU EA WA 560
    rs29489811,2
    A,C,F,H215711652(+) GGACCT/CTTGCA 1 -- ng314Minor allele frequency- C:0.31EU EA WA 416
    rs14646841,2
    C,F,H,O215605474(-) GTGGTT/CTCCAT 2 -- int1 ng317Minor allele frequency- C:0.05EU EA WA NA 556
    rs118917781,2
    C,F,H215618819(+) CTTTCG/CAAGAA 1 G/R mis1 ese38Minor allele frequency- C:0.04EU EA WA 838
    rs118904681,2
    C,F,H215618857(+) CATTCT/CGAAAC 1 R/Q mis18Minor allele frequency- C:0.04EU EA WA 834
    rs7260701,2
    C,F,H215521576(-) AAAAGG/AATATT 2 N/D mis1 ese38Minor allele frequency- A:0.02EU EA WA 834
    About this table

    HapMap Linkage Disequilibrium images for ABCA12 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 607800   disorders: 601277  242500  

    UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0

  • Defects in ABCA12 are the cause of ichthyosis harlequin (HI) [MIM:242500]; also known as
    harlequin fetus. HI is a very severe skin disorder 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
  • Defects in ABCA12 are the cause of ichthyosis lamellar type 2 (LI2) [MIM:601277]; also
    known as ichthyosis congenita IIB (ICR2B). LI is a non-bullous ichthyosis, a skin disorder
    characterized by abnormal cornification of the epidermis. It is one the most severe forms of
    ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a
    tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the
    collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with
    minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and
    scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear
    infections
  • 3 Novoseek disease relationships for ABCA12 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    harlequin ichthyosis 98.31 9 16847209 (1), 16675967 (1), 17611579 (1), 18632686 (1) (see all 8)
    ichthyosis 75.38 1 18341575 (1)
    skin diseases 51.59 3 17611579 (1), 15756637 (1), 16902423 (1)
    About this table

    1 PharmGKB disease relationship for ABCA12 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Ichthyosis, LamellarCO  GN  15756637
    About this table

    GeneTests: ABCA12
    Autosomal Recessive Congenital Ichthyosis

    Human Gene Mutation Database: ABCA12
    Genetic Association Database: ABCA12
    Human Genome Epidemiology Navigator: ABCA12 (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/25 PubMed articles for ABCA12 gene (see all 25 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 26154 HGNC: 14637 AceView: ABCA12 Ensembl:ENSG00000144452 euGenes: HUgn26154
    ECgene: ABCA12 H-InvDB: ABCA12
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=ABCA12
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for ABCA12:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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