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ABCA12 (ATP binding cassette subfamily A member 12)

Identity

Alias_namesICR2B
ichthyosis congenita II, lamellar ichthyosis B
ATP-binding cassette, sub-family A (ABC1), member 12
Alias_symbol (synonym)DKFZP434G232
LI2
Other aliasARCI4A
ARCI4B
HGNC (Hugo) ABCA12
LocusID (NCBI) 26154
Atlas_Id 49964
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at 214931542 and ends at 215032086 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PAPOLG (2p16.1) / ABCA12 (2q35)PAPOLG 2p16.1 / ABCA12 2q35

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ABCA12   14637
Cards
Entrez_Gene (NCBI)ABCA12  26154  ATP binding cassette subfamily A member 12
AliasesARCI4A; ARCI4B; ICR2B; LI2
GeneCards (Weizmann)ABCA12
Ensembl hg19 (Hinxton)ENSG00000144452 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144452 [Gene_View]  chr2:214931542-215032086 [Contig_View]  ABCA12 [Vega]
ICGC DataPortalENSG00000144452
TCGA cBioPortalABCA12
AceView (NCBI)ABCA12
Genatlas (Paris)ABCA12
WikiGenes26154
SOURCE (Princeton)ABCA12
Genetics Home Reference (NIH)ABCA12
Genomic and cartography
GoldenPath hg38 (UCSC)ABCA12  -     chr2:214931542-215032086 -  2q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCA12  -     2q35   [Description]    (hg19-Feb_2009)
EnsemblABCA12 - 2q35 [CytoView hg19]  ABCA12 - 2q35 [CytoView hg38]
Mapping of homologs : NCBIABCA12 [Mapview hg19]  ABCA12 [Mapview hg38]
OMIM242500   601277   607800   
Gene and transcription
Genbank (Entrez)AF418105 AK096597 AK123578 AL080207 AY033486
RefSeq transcript (Entrez)NM_015657 NM_173076
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCA12
Cluster EST : UnigeneHs.134585 [ NCBI ]
CGAP (NCI)Hs.134585
Alternative Splicing GalleryENSG00000144452
Gene ExpressionABCA12 [ NCBI-GEO ]   ABCA12 [ EBI - ARRAY_EXPRESS ]   ABCA12 [ SEEK ]   ABCA12 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26154
GTEX Portal (Tissue expression)ABCA12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86UK0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86UK0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86UK0
Splice isoforms : SwissVarQ86UK0
PhosPhoSitePlusQ86UK0
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_A    ABC_transporter-like    ABC_transporter_CS    ABCA12    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCA12
DMDM Disease mutations26154
Blocks (Seattle)ABCA12
SuperfamilyQ86UK0
Human Protein AtlasENSG00000144452
Peptide AtlasQ86UK0
HPRD07416
IPIIPI00457109   IPI00939572   IPI00925683   
Protein Interaction databases
DIP (DOE-UCLA)Q86UK0
IntAct (EBI)Q86UK0
FunCoupENSG00000144452
BioGRIDABCA12
STRING (EMBL)ABCA12
ZODIACABCA12
Ontologies - Pathways
QuickGOQ86UK0
Ontology : AmiGOreceptor binding  lipid transporter activity  lipid transporter activity  protein binding  ATP binding  cytoplasm  mitochondrial inner membrane  cytosol  plasma membrane  plasma membrane  lipid transport  lipid transport  positive regulation of cholesterol efflux  integral component of membrane  cellular homeostasis  keratinization  secretion by cell  phospholipid efflux  lipid-transporting ATPase activity  apolipoprotein A-I receptor binding  ceramide transport  ATPase activity, coupled to transmembrane movement of substances  surfactant homeostasis  intracellular membrane-bounded organelle  regulated exocytosis  lung alveolus development  transmembrane transport  lipid homeostasis  establishment of skin barrier  protein localization to plasma membrane  protein localization to plasma membrane  epidermal lamellar body  positive regulation of protein localization to cell surface  
Ontology : EGO-EBIreceptor binding  lipid transporter activity  lipid transporter activity  protein binding  ATP binding  cytoplasm  mitochondrial inner membrane  cytosol  plasma membrane  plasma membrane  lipid transport  lipid transport  positive regulation of cholesterol efflux  integral component of membrane  cellular homeostasis  keratinization  secretion by cell  phospholipid efflux  lipid-transporting ATPase activity  apolipoprotein A-I receptor binding  ceramide transport  ATPase activity, coupled to transmembrane movement of substances  surfactant homeostasis  intracellular membrane-bounded organelle  regulated exocytosis  lung alveolus development  transmembrane transport  lipid homeostasis  establishment of skin barrier  protein localization to plasma membrane  protein localization to plasma membrane  epidermal lamellar body  positive regulation of protein localization to cell surface  
Pathways : KEGGABC transporters   
NDEx NetworkABCA12
Atlas of Cancer Signalling NetworkABCA12
Wikipedia pathwaysABCA12
Orthology - Evolution
OrthoDB26154
GeneTree (enSembl)ENSG00000144452
Phylogenetic Trees/Animal Genes : TreeFamABCA12
HOVERGENQ86UK0
HOGENOMQ86UK0
Homologs : HomoloGeneABCA12
Homology/Alignments : Family Browser (UCSC)ABCA12
Gene fusions - Rearrangements
Fusion : MitelmanPAPOLG/ABCA12 [2p16.1/2q35]  [t(2;2)(p16;q35)]  
Fusion: TCGAPAPOLG 2p16.1 ABCA12 2q35 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA12
dbVarABCA12
ClinVarABCA12
1000_GenomesABCA12 
Exome Variant ServerABCA12
ExAC (Exome Aggregation Consortium)ABCA12 (select the gene name)
Genetic variants : HAPMAP26154
Genomic Variants (DGV)ABCA12 [DGVbeta]
DECIPHERABCA12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCA12 
Mutations
ICGC Data PortalABCA12 
TCGA Data PortalABCA12 
Broad Tumor PortalABCA12
OASIS PortalABCA12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCA12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCA12
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ABCA12
DgiDB (Drug Gene Interaction Database)ABCA12
DoCM (Curated mutations)ABCA12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCA12 (select a term)
intoGenABCA12
Cancer3DABCA12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM242500    601277    607800   
Orphanet265    2139    11420   
MedgenABCA12
Genetic Testing Registry ABCA12
NextProtQ86UK0 [Medical]
TSGene26154
GENETestsABCA12
Huge Navigator ABCA12 [HugePedia]
snp3D : Map Gene to Disease26154
BioCentury BCIQABCA12
ClinGenABCA12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26154
Chemical/Pharm GKB GenePA29604
Clinical trialABCA12
Miscellaneous
canSAR (ICR)ABCA12 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCA12
EVEXABCA12
GoPubMedABCA12
iHOPABCA12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:04:31 CEST 2017

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