PharmGKB: The Pharmacogenomics Knowledge Base

Gene:
ABCA12
ATP-binding cassette, sub-family A (ABC1), member 12

Overview

Alternate Names: ATP-binding cassette transporter family A member 12; ATP-binding cassette, sub-family A, member 12; DKFZP434G232 protein; ichthyosis congenita II, lamellar ichthyosis B
Alternate Symbols: ABCA12; DKFZP434G232; DKFZp434G232; FLJ41584; ICR2B; LI2
PharmGKB Accession Id: PA24376

Details

Cytogenetic Location: chr2 : q35
GP mRNA Boundary†: chr2 : 215504511 - 215711396
GP Gene Boundary†: chr2 : 215501511 - 215721396
Strand: minus
Product Name: ATP-binding cassette, sub-family A (ABC1), member 12, ATP-binding cassette, sub-family A, member 12, ATP-binding cassette, sub-family A, member 12 isoform a, ATP-binding cassette, sub-family A, member 12 isoform b
† The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Non-Curated Information

A list of non-curated publications that mention this gene along with other genes is available.

Non-Curated Information

A list of non-curated publications that mention this gene along with other drugs is available.

Curated Information

The following diseases are in curated knowledge about this gene.

  Disease Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
Ichthyosis, Lamellar
  • CO
  •   
  •   
  •   
  • GN
Publications

Non-Curated Information

A list of non-curated publications that mention this gene along with other diseases is available.

LinkOuts

Entrez Gene ID:
26154
OMIM Accession:
242500
601277
607800
UCSC Genome Browser ID:
NM_015657
Ref Seq NM Accession:
NM_015657
NM_173076
Ref Seq NP Accession:
AAI56328
AAK54355
AAN40735
AAP21093
AAY24230
AAY24276
BAG53915
CAB45776
EAW70520
EAW70521
EAW70522
NP_056472
NP_775099
Q53QE2
Q53S55
Q86UK0
Ref Seq NT Accession:
AC_000045
AC_000134
NC_000002
NG_007074
NT_005403
NW_001838863
NW_921618
UniProtKB Accesssion:
ABCAC_HUMAN (Q86UK0)
Ensembl ID:
ENSG00000144452
GenAtlas ID:
ABCA12
GeneCard ID:
ABCA12
SOURCE ID:
ABCA12
MutDB ID:
ABCA12
ALFRED ID:
LO003737U
HuGE ID:
ABCA12
Comparative Toxicogenomics Acc ID:
26154
ModBase:
Q86UK0

Common Searches

Non-Curated Publications

A list of non-curated publications that mention this gene is available.

The PharmGKB is financially supported by the NIH/ NIGMS and is managed at Stanford University (U01GM61374).
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