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Aliases & Descriptions for ABCA12
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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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
Search outside databases for aliases for ABCA12 genePrevious GC identifers: GC02M213960 GC02M214520 GC02M215760 GC02M215998 GC02M215621
Summaries for ABCA12 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ABCA12 : The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-bindingcassette (ABC) transporters. ABC proteins transport various molecules across extra- andintracellular 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, whichis the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternativesplicing of this gene results in multiple transcript variants. [provided by RefSeq] UniProtKB/Swiss-Prot: ABCAC_HUMAN, Q86UK0 Function : Probable transporter involved in lipid homeostasis
Genomic Location for ABCA12
(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
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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 Proteins for ABCA12
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 Q9Y4M5Alternative splicing : 2 isoforms : Q86UK0-1 Q86UK0-2 (Additional isoforms seem to exist)
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_056472.2 NP_775099.2 ENSEMBL proteins: ENSP00000272895 ENSP00000374312 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) :
About this table Antibodies for ABCA12: Assays for ABCA12:
Protein
Domains/ Families for ABCA12(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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 hydrophobicmembrane-anchoring domain and an ATP binding cassette (ABC) domain (By similarity) Similarity : Belongs to the ABC transporter family. ABCA subfamilySimilarity : Contains 2 ABC transporter domains
Gene Function for ABCA12
(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 .)
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               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                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) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for ABCA12
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for ABCA12 3 Interacting proteins for ABCA12 (ENSP00000272895 3 ) via UniProtKB, MINT, and/or STRING About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for ABCA12 (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 )
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Browse Tocris compounds for ABCA12 1 Novoseek chemical compound relationship for ABCA12 gene
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Transcripts for ABCA12(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
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OriGene ,
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               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
Expression for ABCA12
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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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 Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ACTGTTTGTCSOURCE 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 for ABCA12
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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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
74591 1 XM_001002308.2 1 XP_001002308.2 1 AF420436 5 AK028781 5 (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 for ABCA12 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ABCA12 gene ABCA13 2 ABCA2 2
SNPs/Variants for ABCA12 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ABCA12 (up to first 250kb)
Disorders & Mutations for ABCA12
(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 .)
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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 asharlequin fetus. HI is a very severe skin disorder in which the neonate is born with a thickcovering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated byfissures, resembling 'armor plating'. The normal facial features are severely affected, withdistortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies areoften born prematurely and rarely survive the perinatal period Defects in ABCA12 are the cause of ichthyosis lamellar type 2 (LI2) [MIM:601277]; alsoknown as ichthyosis congenita IIB (ICR2B). LI is a non-bullous ichthyosis, a skin disordercharacterized by abnormal cornification of the epidermis. It is one the most severe forms ofichthyoses apparent at birth and persisting throughout life. LI patients are born encased in atight, shiny, translucent covering called collodion membrane. Over the first weeks of life, thecollodion membrane is gradually replaced by generalized large, dark brown, plate-like scales withminimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium andscarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent earinfections
3 Novoseek disease relationships for ABCA12 gene
About this table 1 PharmGKB disease relationship for ABCA12 gene 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)
Medical News for ABCA12 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ABCA12 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/25 PubMed articles for ABCA12 gene (see all 25
): Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. (PubMed id 15756637) 1, 3, 4, 7 Kelsell D.P....O'Toole E.A. (2005) Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. (PubMed id 12915478) 1, 2, 3, 4 Lefevre C....Fischer J. (2003) Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. (PubMed id 12697999) 1, 3, 4 Annilo T.... Rosier M. (2002) No genetic association between ATP binding cassette proteins and Japanese sporadic Alzheimer's disease. (PubMed id 15980630) 3, 6 Ohkubo T....Arai H. (2005) The human ATP-binding cassette (ABC) transporter superfamily. (PubMed id 11435397) 2, 3 Dean M....Allikmets R. (2001) PPAR and LXR activators regulate ABCA12 expression in human keratinocytes. (PubMed id 17611579) 1, 3 Jiang Y.J....Feingold K.R. (2008) Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis. (PubMed id 17591952) 1, 3 Yamanaka Y....Shimizu H. (2007) Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. (PubMed id 19179616) 1, 3 Thomas A.C....Kelsell D.P. (2009) ABCA12 is the major harlequin ichthyosis gene. (PubMed id 16902423) 1, 3 Thomas A.C....Kelsell D.P. (2006) Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis. (PubMed id 17986308) 3 Thomas A.C....Kelsell D.P. (2008)
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Genome Databases showing ABCA12
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ABCA12
(According to HUGE )
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--
Specialized Databases showing ABCA12 (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
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Name Description
GeneReviews http://www.genetests.org/query?gene=ABCA12
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-- Services for ABCA12 (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
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