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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 i... See more...
Aliases for ABCA12 Gene
Aliases for ABCA12 Gene
External Ids for ABCA12 Gene
- HGNC: 14637
- Entrez Gene: 26154
- Ensembl: ENSG00000144452
- OMIM: 607800
- UniProtKB: Q86UK0
Previous HGNC Symbols for ABCA12 Gene
- ICR2B
Previous GeneCards Identifiers for ABCA12 Gene
- GC02M213960
- GC02M214520
- GC02M215760
- GC02M215998
- GC02M215621
- GC02M215504
- GC02M207652
- GC02M215796
Summaries for ABCA12 Gene
-
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]
GeneCards Summary for ABCA12 Gene
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.
UniProtKB/Swiss-Prot Summary for ABCA12 Gene
-
Probable transporter involved in lipid homeostasis.
Additional gene information for ABCA12 Gene
- HGNC(14637)
- Entrez Gene(26154)
- Ensembl(ENSG00000144452)
- OMIM(607800)
- UniProtKB(Q86UK0)
- Open Targets Platform(ENSG00000144452)
- Monarch Initiative
- Search for ABCA12 at DataMed
- Search for ABCA12 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCA12 Gene
Genomics for ABCA12 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ABCA12 Gene
| 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 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ABCA12 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCA12
- Top Transcription factor binding sites by QIAGEN in the ABCA12 gene promoter:
-
- AP-1
- c-Fos
- c-Jun
- E4BP4
- GATA-1
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
Genomic Locations for ABCA12 Gene
Genomic Locations for ABCA12 Gene
- chr2:214,931,542-215,138,626
- (GRCh38/hg38)
- Size:
- 207,085 bases
- Orientation:
- Minus strand
- chr2:215,796,266-216,003,151
- (GRCh37/hg19)
- Size:
- 206,886 bases
- Orientation:
- Minus strand
Genomic View for ABCA12 Gene
Genes around ABCA12 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q35 by HGNC
- 2q35 by Entrez Gene
- 2q35 by Ensembl
ABCA12 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ABCA12 Gene
Proteins for ABCA12 Gene
-
Protein details for ABCA12 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q86UK0-ABCAC_HUMAN
- Recommended name:
- ATP-binding cassette sub-family A member 12
- Protein Accession:
- Q86UK0
- Q53QE2
- Q53S55
- Q8IZW6
- Q96JT3
- Q9Y4M5
Protein attributes for ABCA12 Gene
- Size:
- 2595 amino acids
- Molecular mass:
- 293237 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAN40735.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for ABCA12 Gene
Selected DME Specific Peptides for ABCA12 Gene
- Q86UK0:
-
- NGAGKTT
- GPNGAGKT
- LLGPNGAGK
Post-translational modifications for ABCA12 Gene
-
Glycosylation at Asn333, Asn367, Asn383, Asn412, Asn435, Ser125, Thr126, Asn156, Asn174, Asn528, Asn214, Asn543, Asn577, Asn275, Asn608, Asn623, Asn648, Asn752, Asn826, Asn920, Asn963, Asn1170, Asn1524, Asn1663, Asn1704, Asn1769, Asn1819, Asn1835, Asn1876, Asn1921, Asn1952, Asn2178, Asn2208, Asn2223, Asn2318, Asn2542, and Asn2547
- NX_Q86UK0 (NX_Q86UK0-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ABCA12 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ ABCA12 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ABCA12
- Novus Biologicals Antibodies for ABCA12
-
Abcam antibodies for ABCA12
- Invitrogen Antibodies for ABCA12 (AFLGC-ABCA12)
-
Boster Bio Antibodies for ABCA12
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ABCA12
- Origene Custom Protein Services for ABCA12
- Novus Biologicals proteins for ABCA12
-
Abcam proteins for ABCA12
Domains & Families for ABCA12 Gene
Gene Families for ABCA12 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for ABCA12 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ABCA12 Gene
- GenScript: Design optimal peptide antigens:
-
- ATP-binding cassette transporter 12 (ABCAC_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q86UK0UniProtKB/Swiss-Prot:
ABCAC_HUMAN :- Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
- Belongs to the ABC transporter superfamily. ABCA family.
- Domain:
-
- Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
- Family:
-
- Belongs to the ABC transporter superfamily. ABCA family.
Function for ABCA12 Gene
Molecular function for ABCA12 Gene
- UniProtKB/Swiss-Prot Function:
- Probable transporter involved in lipid homeostasis.
Enzyme Numbers (IUBMB) for ABCA12 Gene
Phenotypes From GWAS Catalog for ABCA12 Gene
| 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 |
Phenotypes for ABCA12 Gene
- MGI mutant phenotypes for ABCA12:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for ABCA12:
Animal Models for ABCA12 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for ABCA12
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ABCA12 - Select products 50% OFF >
- * ABCA12 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ABCA12
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCA12
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCA12
miRNA for ABCA12 Gene
- miRTarBase miRNAs that target ABCA12
-
- hsa-miR-335-5p (MIRT017104)
- hsa-miR-1249-3p (MIRT661014)
- hsa-miR-3679-3p (MIRT661015)
- hsa-miR-642b-3p (MIRT661016)
- hsa-miR-642a-3p (MIRT661017)
- hsa-miR-6730-3p (MIRT661018)
- hsa-miR-4287 (MIRT661019)
- hsa-miR-4685-3p (MIRT661020)
- hsa-miR-6734-3p (MIRT661021)
- hsa-miR-5088-3p (MIRT661022)
- hsa-miR-6887-3p (MIRT661023)
- hsa-miR-660-5p (MIRT661024)
- hsa-miR-4482-5p (MIRT661025)
- hsa-miR-3130-5p (MIRT661026)
- hsa-miR-1912 (MIRT661027)
- hsa-miR-1295b-5p (MIRT661028)
- hsa-miR-329-3p (MIRT661029)
- hsa-miR-362-3p (MIRT661030)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ABCA12
- Browse OriGene Inhibitory RNA Products For ABCA12
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCA12
Clone Products
- Applied Biological Materials (abm): Clones for ABCA12 - Select products 50% OFF >
- * ABCA12 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ABCA12
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCA12
Cell Line Products
-
Horizon Cell Lines for ABCA12
No data available for Transcription Factor Targets and HOMER Transcription for ABCA12 Gene
Localization for ABCA12 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ABCA12 Gene
- Membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| cytosol | 3 |
| extracellular | 2 |
| nucleus | 2 |
| golgi apparatus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Cytosol (2)
- Nucleoli (2)
- Plasma membrane (2)
- Vesicles (2)
| 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 | -- |
Pathways & Interactions for ABCA12 Gene
Pathways by source for ABCA12 Gene
3 Reactome pathways for ABCA12 Gene
1 KEGG pathway for ABCA12 Gene
Interacting Proteins for ABCA12 Gene
Selected Interacting proteins:
Q86UK0-ABCAC_HUMAN
ENSP00000272895
for ABCA12 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ABCA12
| 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 | -- |
No data available for SIGNOR curated interactions for ABCA12 Gene
Transcripts for ABCA12 Gene
mRNA/cDNA for ABCA12 Gene
- 2 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000272895 9298 nts (view in UCSC)
- ENST00000389661 7005 nts (view in UCSC)
- ENST00000412081 485 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ABCA12 - Select products 50% OFF >
- * ABCA12 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ABCA12
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCA12
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCA12
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ABCA12
- Browse OriGene Inhibitory RNA Products For ABCA12
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCA12
Clone Products
- Applied Biological Materials (abm): Clones for ABCA12 - Select products 50% OFF >
- * ABCA12 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ABCA12
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCA12
Relevant External Links for ABCA12 Gene
- GeneLoc Exon Structure for
- ABCA12
Expression for ABCA12 Gene
mRNA differential expression in normal tissues according to GTEx for ABCA12 Gene
This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x22.6) and Skin - Not Sun Exposed (Suprapubic) (x19.1).
This gene is overexpressed in Liver (29.6), Bone (11.3), Bone marrow stromal cell (10.9), Fetal testis (6.4), and Plasma (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCA12 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCA12
SOURCE GeneReport for Unigene cluster for ABCA12 Gene:
Hs.134585mRNA Expression by UniProt/SwissProt for ABCA12 Gene:
Q86UK0-ABCAC_HUMAN
Tissue specificity:
Mainly expressed in the stomach, placenta, testis and fetal brain.
Evidence on tissue expression from TISSUES for ABCA12 Gene
- Eye(4.2)
- Pancreas(3.5)
- Skin(2.9)
- Intestine(2.2)
- Kidney(2.1)
- Lung(2.1)
- Blood(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCA12 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- ear
- eye
- eyelid
- face
- forehead
- head
- lip
- mouth
- nose
- outer ear
- skull
Pelvis:
- penis
- vulva
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- nail
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- skin
- spinal cord
- sweat gland
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for ABCA12
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for ABCA12 Gene
Orthologs for ABCA12 Gene
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 |
|
- Species where no ortholog for ABCA12 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ABCA12 Gene
- ENSEMBL:
- Gene Tree for ABCA12 (if available)
- TreeFam:
- Gene Tree for ABCA12 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ABCA12: view image
Paralogs for ABCA12 Gene
Paralogs for ABCA12 Gene
(12) SIMAP similar genes for ABCA12 Gene using alignment to 2 proteins:
- ABCAC_HUMAN
- E9PBK1_HUMAN
Pseudogenes.org Pseudogenes for ABCA12 Gene
Variants for ABCA12 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCA12 Gene
| 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 |
Residual Variation Intolerance Score:
6.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.38;
90.84% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ABCA12 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA12 Gene
Disorders for ABCA12 Gene
(20) MalaCards diseases for ABCA12 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ichthyosis, congenital, autosomal recessive 4b |
|
|
| ichthyosis, congenital, autosomal recessive 4a |
|
|
| autosomal recessive congenital ichthyosis |
|
|
| ichthyosis |
|
|
| ectropion |
|
|
Search ABCA12 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ABCAC_HUMAN- Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:12915478, ECO:0000269 PubMed:17508018, ECO:0000269 PubMed:18284401, ECO:0000269 PubMed:19262603, ECO:0000269 PubMed:22257947}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]: A rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma. {ECO:0000269 PubMed:16675967, ECO:0000269 PubMed:16902423}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ABCA12
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ABCA12 Gene
Publications for ABCA12 Gene
- Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. (PMID: 12915478) Lefévre C … Fischer J (Human molecular genetics 2003) 2 3 4 23
- ABCA12 is the major harlequin ichthyosis gene. (PMID: 16902423) Thomas AC … Kelsell DP (The Journal of investigative dermatology 2006) 3 4 23
- Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. (PMID: 15756637) Kelsell DP … O'Toole EA (American journal of human genetics 2005) 3 4 23
- Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. (PMID: 12697999) Annilo T … Rosier M (Cytogenetic and genome research 2002) 3 4 23
- Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. (PMID: 22257947) Nawaz S … Klar J (European journal of dermatology : EJD 2012) 3 4
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Products for ABCA12 Gene
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Sources for ABCA12 Gene
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