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Gene : ABCA12 Homo sapiens

Name  ? ATP binding cassette subfamily A member 12 Cytological Location  2q35
Brief Description  ATP binding cassette subfamily A member 12
Description  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]
  • synonyms:
  • HGNC:14637,
  • ARCI4B,
  • ichthyosis congenita II, lamellar ichthyosis B,
  • ATP-binding cassette, sub-family A (ABC1), member 12,
  • LI2,
  • NM_173076,
  • AF418105,
  • ABCA12,
  • LI2,
  • uc002vew.3,
  • ICR2B,
  • ARCI4A,
  • DKFZP434G232,
  • ICR2B,
  • OTTHUMG00000154801
  • identifiers:
  • 26154,
  • ENSG00000144452,
  • ABCA12

Genome feature

Region: gene ? Length: 207085  
Location: 2:214931542-215138626 reverse strand Cyto location: 2q35

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Report --> GWAS hit


2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



108 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results