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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]
ABCA12 (ATP Binding Cassette Subfamily A Member 12) is a Protein Coding gene. Diseases associated with ABCA12 include Ichthyosis, Congenital, Autosomal Recessive 4B and Ichthyosis, Congenital, Autosomal Recessive 4A. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA13.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH02J215135 | Promoter/Enhancer | 1.8 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 606.5 | +0.3 | 315 | 5.2 | CREB1 PRDM10 FOXA1 RELA POLR2A IKZF2 PKNOX1 ARID3A DPF2 JUND | ABCA12 BARD1 piR-43107-166 | |
GH02J215104 | Enhancer | 0.6 | Ensembl ENCODE | 11.5 | +32.0 | 31985 | 3.4 | CEBPB NONO CEBPG FOS | ABCA12 piR-43107-166 BARD1 | |
GH02J215161 | Enhancer | 0.3 | Ensembl | 11.9 | -23.0 | -22975 | 0.4 | NFIC | lnc-ATIC-11 ABCA12 ATIC | |
GH02J215098 | Enhancer | 0.3 | Ensembl | 11.8 | +39.9 | 39925 | 0.2 | ZNF24 | ABCA12 piR-43107-166 BARD1 | |
GH02J215071 | Enhancer | 0.8 | Ensembl ENCODE | 0.2 | +66.7 | 66667 | 1.5 | CEBPG ATF7 RFX1 CTBP1 KLF4 ZNF217 KLF9 DPF2 FOXA1 ATF4 | piR-43107-166 ABCA12 ENSG00000227769 BARD1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005102 | signaling receptor binding | IPI | 23931754 |
GO:0005319 | lipid transporter activity | TAS | -- |
GO:0005515 | protein binding | IPI | 23931754 |
GO:0005524 | ATP binding | NAS | 12697999 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IDA | 23931754 |
GO:0005829 | cytosol | IEA | -- |
GO:0005886 | plasma membrane | IDA,TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006869 | lipid transport | IEA,NAS | 12915478 |
GO:0010875 | positive regulation of cholesterol efflux | IDA | 23931754 |
GO:0019725 | cellular homeostasis | NAS | 12697999 |
GO:0030216 | keratinocyte differentiation | IEA | -- |
GO:0031424 | keratinization | IEA | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ABCA12 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ABCA12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ABCA12 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Abca12 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Abca12 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ABCA12 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ABCA12 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ABCA12 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ABCA12 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101731410 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | abca12 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | BG:DS00797.5 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | abt-4 31 |
|
OneToOne | |
Rice (Oryza sativa) |
Liliopsida | Os.8772 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708533 | Benign: not provided | 214,983,661(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
709630 | Benign/Likely Benign: Congenital ichthyosis of skin; not provided | 215,049,770(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
709745 | Benign: not provided | 214,989,568(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
711353 | Likely Benign: not provided | 215,011,980(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
713057 | Likely Benign: not provided | 215,011,562(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2675366 | CNV | deletion | 23128226 |
esv3584349 | CNV | loss | 25503493 |
esv3594272 | CNV | loss | 21293372 |
esv3893553 | CNV | loss | 25118596 |
nsv1012204 | CNV | gain | 25217958 |
nsv1012743 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ichthyosis, congenital, autosomal recessive 4b |
|
|
ichthyosis, congenital, autosomal recessive 4a |
|
|
autosomal recessive congenital ichthyosis |
|
|
ichthyosis |
|
|
ectropion |
|
|