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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
  • Ichthyosis Congenita II, Lamellar Ichthyosis B 2
  • ATP-Binding Cassette 12 4
  • EC 3.6.3.25 63
  • EC 3.6.3 63
  • ARCI4A 3
  • ARCI4B 3
  • ICR2B 3
  • ABC12 4
  • LI2 3

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 ABC-family proteins mediated transport. GO annotations related to this gene include receptor binding and ATPase activity, coupled to transmembrane movement of substances. 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

Chromosome:
2
Start:
214,931,542 bp from pter
End:
215,138,580 bp from pter
Size:
207,039 bases
Orientation:
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:
    Q86UK0-ABCAC_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 12
    Protein Accession:
    Q86UK0
    Secondary Accessions:
    • Q53QE2
    • Q53S55
    • Q8IZW6
    • Q96JT3
    • Q9Y4M5

    Protein attributes for ABCA12 Gene

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

    Alternative splice isoforms for ABCA12 Gene

    UniProtKB/Swiss-Prot:

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 Ser 125, Asn 156, Asn 174, Asn 214, Asn 275, Asn 333, Asn 367, Asn 383, Asn 412, Asn 435, Asn 528, Asn 543, Asn 577, Asn 608, Asn 623, Asn 648, Asn 752, Asn 826, Asn 920, Asn 963, Asn 1170, Asn 1524, Asn 1663, Asn 1704, Asn 1769, Asn 1819, Asn 1835, Asn 1876, Asn 1921, Asn 1952, Asn 2178, Asn 2208, Asn 2223, Asn 2318, Asn 2542, and Asn 2547
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCA12 Gene

Domains & Families 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

Q86UK0

UniProtKB/Swiss-Prot:

ABCAC_HUMAN :
  • 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.
Domain:
  • 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.
Family:
  • 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

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

COMPARTMENTS
Jensen Localization Image for ABCA12 Gene COMPARTMENTS Subcellular localization image for ABCA12 gene
Compartment Confidence
plasma membrane 4
cytosol 2
mitochondrion 2
extracellular 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 & Interactions for ABCA12 Gene

SuperPathways for ABCA12 Gene

Superpath Contained pathways
1 ABC-family proteins mediated transport
genes like me logo Genes that share pathways with ABCA12: view

Pathways by source for ABCA12 Gene

1 KEGG pathway 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:0006869 lipid transport NAS 12915478
GO:0008152 metabolic process IEA --
GO:0010875 positive regulation of cholesterol efflux IDA 23931754
GO:0015914 phospholipid transport --
GO:0019725 cellular homeostasis NAS 12697999
genes like me logo Genes that share ontologies with ABCA12: view

No data available for SIGNOR curated interactions for ABCA12 Gene

Drugs & Compounds for ABCA12 Gene

(1) Additional Compounds for ABCA12 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LIPID
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
ABCA12
ECgene alternative splicing isoforms for
ABCA12

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) (x22.6) and Skin - Not Sun Exposed (Suprapubic) (x19.1).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines 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

Q86UK0-ABCAC_HUMAN
Tissue specificity: Mainly expressed in the stomach, placenta, testis and fetal brain.
genes like me logo Genes that share expression patterns 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 Protein tissue co-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
cow
(Bos Taurus)
Mammalia ABCA12 35
  • 89.22 (n)
  • 89.47 (a)
ABCA12 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA12 35
  • 91.09 (n)
  • 92.02 (a)
ABCA12 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abca12 35
  • 86.3 (n)
  • 89.66 (a)
Abca12 16
Abca12 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABCA12 35
  • 99.4 (n)
  • 99.23 (a)
ABCA12 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abca12 35
  • 86.01 (n)
  • 89.39 (a)
oppossum
(Monodelphis domestica)
Mammalia ABCA12 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCA12 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCA12 35
  • 66.58 (n)
  • 60.58 (a)
ABCA12 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCA12 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731410 35
  • 57.38 (n)
  • 52.1 (a)
zebrafish
(Danio rerio)
Actinopterygii abca12 35
  • 55.8 (n)
  • 49 (a)
abca12 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BG:DS00797.5 37
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea abt-4 36
  • 27 (a)
OneToOne
rice
(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

ENSEMBL:
Gene Tree for ABCA12 (if available)
TreeFam:
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.org 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

Variation tolerance for ABCA12 Gene

Residual Variation Intolerance Score: 6.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.38; 90.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCA12 Gene

HapMap Linkage Disequilibrium report
ABCA12
Human Gene Mutation Database (HGMD)
ABCA12

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

Disorders for ABCA12 Gene

MalaCards: The human disease database

(18) MalaCards diseases for ABCA12 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

UniProtKB/Swiss-Prot

ABCAC_HUMAN
  • 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.

Relevant External Links for ABCA12

Genetic Association Database (GAD)
ABCA12
Human Genome Epidemiology (HuGE) Navigator
ABCA12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCA12
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 23 67
  2. [Harlequin ichthyosis--medical and psychosocial challenges]. (PMID: 20166009) Eilers E. … HA1seman D. (Klin Padiatr 2010) 23 67
  3. Ichthyosis congenita, harlequin fetus type: a case report. (PMID: 19556209) Belengeanu V. … Budisan C. (Adv Med Sci 2009) 23 67
  4. Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. (PMID: 19179616) Thomas A.C. … Kelsell D.P. (Am. J. Pathol. 2009) 23 67
  5. Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis. (PMID: 19664001) Castiglia D. … Magnani C. (Clin. Genet. 2009) 23 67

Products for ABCA12 Gene

Sources for ABCA12 Gene

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