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Aliases for ABCA12 Gene

Aliases for ABCA12 Gene

  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 12 2 3
  • ATP-Binding Cassette Transporter 12 3 4
  • ARCI4A 3 6
  • ARCI4B 3 6
  • ICR2B 3 6
  • LI2 3 6
  • Ichthyosis Congenita II, Lamellar Ichthyosis B 2
  • ATP-Binding Cassette Sub-Family A Member 12 3
  • ATP-Binding Cassette 12 4
  • EC 63
  • EC 3.6.3 63
  • ABC12 4

External Ids for ABCA12 Gene

Previous HGNC Symbols for ABCA12 Gene

  • ICR2B

Previous GeneCards Identifiers for ABCA12 Gene

  • GC02M213960
  • GC02M214520
  • GC02M215760
  • GC02M215998
  • GC02M215621
  • GC02M215504
  • GC02M207652
  • GC02M215796

Summaries for ABCA12 Gene

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, autosomal recessive 4b. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ABC-family proteins mediated transport. GO annotations related to this gene include ATPase activity. An important paralog of this gene is ABCA4.

UniProtKB/Swiss-Prot for ABCA12 Gene

  • Probable transporter involved in lipid homeostasis

Gene Wiki entry for ABCA12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA12 Gene

Genomics for ABCA12 Gene

Regulatory Elements for ABCA12 Gene

Genomic Location for ABCA12 Gene

214,931,542 bp from pter
215,138,428 bp from pter
206,887 bases
Minus strand

Genomic View for ABCA12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCA12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA12 Gene

Proteins for ABCA12 Gene

  • Protein details for ABCA12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-binding cassette sub-family A member 12
    Protein Accession:
    Secondary Accessions:
    • Q53QE2
    • Q53S55
    • Q8IZW6
    • Q96JT3
    • Q9Y4M5

    Protein attributes for ABCA12 Gene

    2595 amino acids
    Molecular mass:
    293237 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAN40735.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCA12 Gene


neXtProt entry for ABCA12 Gene

Proteomics data for ABCA12 Gene at MOPED

Selected DME Specific Peptides for ABCA12 Gene

Post-translational modifications for ABCA12 Gene

  • Glycosylation at Ser125, Thr126, Asn156, Asn174, Asn214, Asn275, Asn333, Asn367, Asn383, Asn412, Asn435, Asn528, Asn543, Asn577, Asn608, Asn623, Asn648, Asn752, Asn826, Asn920, Asn963, Asn1170, Asn1524, Asn1663, Asn1704, Asn1769, Asn1819, Asn1835, Asn1876, Asn1921, Asn1952, Asn2178, Asn2208, Asn2223, Asn2318, Asn2542, and Asn2547
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCA12 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ABCA12 Gene

Gene Families for ABCA12 Gene

Protein Domains for ABCA12 Gene

Suggested Antigen Peptide Sequences for ABCA12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
  • Belongs to the ABC transporter superfamily. ABCA family.
  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
  • Contains 2 ABC transporter domains.
  • Belongs to the ABC transporter superfamily. ABCA family.
genes like me logo Genes that share domains with ABCA12: view

Function for ABCA12 Gene

Molecular function for ABCA12 Gene

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

Enzyme Numbers (IUBMB) for ABCA12 Gene

Gene Ontology (GO) - Molecular Function for ABCA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 23931754
GO:0005319 lipid transporter activity IDA 16007253
GO:0005515 protein binding IPI 23931754
GO:0005524 ATP binding NAS 12697999
GO:0005548 phospholipid transporter activity IBA --
genes like me logo Genes that share ontologies with ABCA12: view
genes like me logo Genes that share phenotypes with ABCA12: view

Animal Models for ABCA12 Gene

MGI Knock Outs for ABCA12:

Animal Model Products

miRNA for ABCA12 Gene

miRTarBase miRNAs that target ABCA12

No data available for Transcription Factor Targets and HOMER Transcription for ABCA12 Gene

Localization for ABCA12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA12 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for ABCA12 Gene COMPARTMENTS Subcellular localization image for ABCA12 gene
Compartment Confidence
cytosol 2
mitochondrion 2
golgi apparatus 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ABCA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23931754
GO:0005743 mitochondrial inner membrane IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA 23931754
GO:0005887 integral component of plasma membrane IBA --
genes like me logo Genes that share ontologies with ABCA12: view

Pathways for ABCA12 Gene

genes like me logo Genes that share pathways with ABCA12: view

Pathways by source for ABCA12 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ABCA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006869 lipid transport NAS 12915478
GO:0008152 metabolic process IEA --
GO:0010875 positive regulation of cholesterol efflux IDA 23931754
GO:0019725 cellular homeostasis NAS 12697999
genes like me logo Genes that share ontologies with ABCA12: view

Drugs for ABCA12 Gene

(1) Novoseek inferred chemical compound relationships for ABCA12 Gene

Compound -log(P) Hits PubMed IDs
lipid 50.1 12
genes like me logo Genes that share compounds with ABCA12: view

Transcripts for ABCA12 Gene

Unigene Clusters for ABCA12 Gene

ATP-binding cassette, sub-family A (ABC1), member 12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA12 Gene

No ASD Table

Relevant External Links for ABCA12 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABCA12 Gene

mRNA expression in normal human tissues for ABCA12 Gene

mRNA differential expression in normal tissues according to GTEx for ABCA12 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (22.6) and Skin - Not Sun Exposed (Suprapubic) (19.1).

Protein differential expression in normal tissues for ABCA12 Gene

This gene is overexpressed in Liver (29.6), Bone (11.3), Bone marrow stromal cell (10.9), Fetal testis (6.4), and Plasma (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABCA12 Gene

SOURCE GeneReport for Unigene cluster for ABCA12 Gene Hs.134585

mRNA Expression by UniProt/SwissProt for ABCA12 Gene

Tissue specificity: Mainly expressed in the stomach, placenta, testis and fetal brain.
genes like me logo Genes that share expressions with ABCA12: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Expression partners for ABCA12 Gene

Orthologs for ABCA12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCA12 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ABCA12 35
  • 89.22 (n)
  • 89.47 (a)
ABCA12 36
  • 90 (a)
(Canis familiaris)
Mammalia ABCA12 35
  • 91.09 (n)
  • 92.02 (a)
ABCA12 36
  • 92 (a)
(Mus musculus)
Mammalia Abca12 35
  • 86.3 (n)
  • 89.66 (a)
Abca12 16
Abca12 36
  • 90 (a)
(Pan troglodytes)
Mammalia ABCA12 35
  • 99.4 (n)
  • 99.23 (a)
ABCA12 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Abca12 35
  • 86.01 (n)
  • 89.39 (a)
(Monodelphis domestica)
Mammalia ABCA12 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia ABCA12 36
  • 78 (a)
(Gallus gallus)
Aves ABCA12 35
  • 66.58 (n)
  • 60.58 (a)
ABCA12 36
  • 58 (a)
(Anolis carolinensis)
Reptilia ABCA12 36
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731410 35
  • 57.38 (n)
  • 52.1 (a)
(Danio rerio)
Actinopterygii abca12 35
  • 55.8 (n)
  • 49 (a)
abca12 36
  • 53 (a)
fruit fly
(Drosophila melanogaster)
Insecta BG:DS00797.5 37
  • 28 (a)
(Caenorhabditis elegans)
Secernentea abt-4 36
  • 27 (a)
(Oryza sativa)
Liliopsida Os.8772 35
Species with no ortholog for ABCA12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCA12 Gene

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

Paralogs for ABCA12 Gene

Paralogs for ABCA12 Gene

(12) SIMAP similar genes for ABCA12 Gene using alignment to 2 proteins: Pseudogenes for ABCA12 Gene

genes like me logo Genes that share paralogs with ABCA12: view

Variants for ABCA12 Gene

Sequence variations from dbSNP and Humsavar for ABCA12 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs940274 -- 215,086,907(+) CTTTC(C/T)CTAAC intron-variant
rs940275 -- 214,996,835(+) AAGTG(G/T)ATGGA intron-variant
rs940276 -- 214,996,839(+) GGATG(A/G)ACGGG intron-variant
rs940277 -- 215,098,551(+) TATTG(G/T)TGCAC intron-variant
rs940278 -- 215,023,935(-) TTCCT(C/T)GTCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA12 Gene

Variant ID Type Subtype PubMed ID
nsv875833 CNV Gain 21882294
esv2675366 CNV Deletion 23128226
nsv875834 CNV Gain 21882294
nsv875835 CNV Gain 21882294

Relevant External Links for ABCA12 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA12 Gene

Disorders for ABCA12 Gene

(2) OMIM Diseases for ABCA12 Gene (607800)


  • 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. {ECO:0000269 PubMed:12915478, ECO:0000269 PubMed:17508018, ECO:0000269 PubMed:18284401, ECO:0000269 PubMed:19262603, ECO:0000269 PubMed:22257947}. 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. {ECO:0000269 PubMed:15756637, ECO:0000269 PubMed:16675967, ECO:0000269 PubMed:16902423}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ABCA12 Gene

(3) Novoseek inferred disease relationships for ABCA12 Gene

Disease -log(P) Hits PubMed IDs
harlequin ichthyosis 98.6 10
ichthyosis 78.2 1
skin diseases 58.3 4

Relevant External Links for ABCA12

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ABCA12: view

No data available for Genatlas for ABCA12 Gene

Publications for ABCA12 Gene

  1. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. (PMID: 12915478) Lefevre C. … Fischer J. (Hum. Mol. Genet. 2003) 2 3 4 23
  2. Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. (PMID: 12697999) Annilo T. … Rosier M. (Cytogenet. Genome Res. 2002) 3 4 23
  3. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. (PMID: 15756637) Kelsell D.P. … O'Toole E.A. (Am. J. Hum. Genet. 2005) 3 4 23
  4. ABCA12 is the major harlequin ichthyosis gene. (PMID: 16902423) Thomas A.C. … Kelsell D.P. (J. Invest. Dermatol. 2006) 3 4 23
  5. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. (PMID: 16675967) Akiyama M. … Shimizu H. (J. Invest. Dermatol. 2006) 4 23

Products for ABCA12 Gene

Sources for ABCA12 Gene

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