ABCA12 - ATP binding cassette subfamily A member 12 Gene

Also Known as LI2; ICR2B; ARCI4A; ARCI4B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26154

About ABCA12

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:214,931,542-215,138,626 (from NCBI)

This gene has 3 transcripts (splice variants), 217 orthologues, 11 paralogues and is associated with 6 phenotypes. Biased expression in skin (RPKM 10.7) and colon (RPKM 0.6).

Summary

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 Products (2)

mRNA	Protein	Name
NM_015657.4	NP_056472.2	glucosylceramide transporter ABCA12 isoform b
NM_173076.3	NP_775099.2	glucosylceramide transporter ABCA12 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables apolipoprotein A-I receptor binding	IPI IPI: Inferred from physical interaction	23931754	GOA
enables lipid transporter activity	IDA IDA: Inferred from direct assay	16007253	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23931754	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	23931754	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ceramide metabolic process	IDA IDA: Inferred from direct assay	17927575	GOA
involved in ceramide transport	IDA IDA: Inferred from direct assay	17927575	GOA
involved in ceramide transport	IMP IMP: Inferred from mutant phenotype	20869849	GOA
involved in corneocyte desquamation	IMP IMP: Inferred from mutant phenotype	19179616	GOA
involved in intracellular protein transport	IMP IMP: Inferred from mutant phenotype	19179616	GOA
involved in lipid transport	IDA IDA: Inferred from direct assay	16007253	GOA
involved in phospholipid efflux	IMP IMP: Inferred from mutant phenotype	23931754	GOA
involved in positive regulation of cholesterol efflux	IDA IDA: Inferred from direct assay	23931754	GOA
involved in protein localization to plasma membrane	IDA IDA: Inferred from direct assay	23931754	GOA
involved in protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	23931754	GOA
involved in regulated exocytosis	IMP IMP: Inferred from mutant phenotype	16007253	GOA
involved in regulation of keratinocyte differentiation	IMP IMP: Inferred from mutant phenotype	19179616	GOA
involved in secretion by cell	IMP IMP: Inferred from mutant phenotype	16007253	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	17927575	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	23931754	GOA
located in epidermal lamellar body	IDA IDA: Inferred from direct assay	16007253	GOA
located in epidermal lamellar body membrane	IDA IDA: Inferred from direct assay	17927575	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	23931754	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCA12 Protein Structure

ABC2_membrane_3

ABC_tran

ABC2_membrane_3

ABC_tran

0
400
800
1200
1600
2000
2400
2595 a.a.

Protein Preferred Names	Protein Names
glucosylceramide transporter ABCA12	ATP-binding cassette transporter 12

Related Diseases

Diseases	Alias
Ichthyosis, Congenital, Autosomal Recessive 4b	Harlequin Ichthyosis Autosomal Recessive Congenital Ichthyosis 4b Hi Harlequin Fetus ARCI4B Ichthyosis Congenita, Harlequin Fetus Type Harlequin Type Ichthyosis 'Harlequin Fetus' Harlequin Type Ichthyosis Congenita Harlequin Type Ichthyosis Fetalis Harlequin Baby Syndrome Ichthyosis Congenita, Harlequin Type Ichthyosis Fetalis, Harlequin Type Ichthyosis Congenita Harlequin Fetus Type Ichthyosis, Harlequin Ichthyosis, Congenital, Autosomal Recessive, Type 4b
Ichthyosis, Congenital, Autosomal Recessive 4a	Ichthyosis Congenita Iib Icr2b Autosomal Recessive Congenital Ichthyosis 4a ARCI4A Lamellar Ichthyosis 2 Li2 Ichthyosis, Lamellar, 2, Formerly Li2, Formerly Ichthyosis Lamellar 2 Lamellar Ichthyosis, Type 2 Ichthyosis, Lamellar 2 Ichthyosis, Congenital, Autosomal Recessive, Type 4a
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Ectropion	Ectropion Of Eyelid Everted Margin Eversion Of The Eyelid Eyelashes Turned Out Eyelid Everted Eyelid Turned Out Unspecified Ectropion Of Unspecified Eye
Ichthyosis Vulgaris	Ichthyosis Simplex Dominant Congenital Ichthyosiform Erythroderma Common Ichthyosis Fish Scale Disease VI Ichthyoses Congenital Ichthyosis
Eyelid Disease	Eyelid Diseases Eyelid Disorders
Epidermolytic Hyperkeratosis	Bullous Congenital Ichthyosiform Erythroderma Bullous Ichthyosiform Erythroderma EHK Bullous Erythroderma Ichthyosiformis Congenita Of Brocq Bcie Bie Epidermolytic Ichthyosis Ichthyosis Bullosa Of Siemens Superficial Epidermolytic Ichthyosis Hyperkeratosis, Epidermolytic Congenital Bullous Ichthyosiform Erythroderma Bullous Type Ichthyosis Epidermolytic Palmoplantar Hyperkeratosis Bullous Ichthyosiform Erythroderma Congenita Bullous Erythroderma Ichthyosiforme Sei Epidermolytic Hyperkeratosis Late-Onset Epidermolytic Hyperkeratosis, Late-Onset
Esophageal Basaloid Squamous Cell Carcinoma	Basaloid Squamous Carcinoma Of Esophagus Esophageal Basaloid Carcinoma
Ichthyosis, Congenital, Autosomal Recessive 1	Collodion Fetus Autosomal Recessive Congenital Ichthyosis 1 ARCI1 Ichthyosis Congenita Lamellar Exfoliation Of Newborn Desquamation Of Newborn Ichthyosis Congenita Ii Shcb Icr2 Bathing Suit Ichthyosis Li1 Self-Healing Collodion Baby Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution Collodion Baby, Self-Healing Ichthyosis, Lamellar, 1, Formerly Li1, Formerly Ichthyosis Lamellar 1 Lamellar Ichthyosis, Type 1 Bsi Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution Autosomal Recessive Congenital Ichthyosis Tgm1-Related Lamellar Ichthyosis 1 Non-Erythrodermic Ichthyosis Ichthyosis, Congenital, Autosomal Recessive, Type 1 Congenital Ichthyosis
Charcot-Marie-Tooth Disease, Axonal, Type 2dd	CMT2DD Charcot-Marie-Tooth Neuropathy, Type 2dd Charcot-Marie-Tooth Disease Type 2dd Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Atp1a1-Related Cmt2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd Charcot-Marie-Tooth Disease 2dd
X-Linked Chondrodysplasia Punctata 2	Happle Syndrome Cdpx2 Conradi-Hünermann Syndrome Chondrodysplasia Punctata 2, X-Linked X-Linked Dominant Chondrodysplasia Punctata Conradi-Hunermann Syndrome Conradi-Hünermann-Happle Syndrome Cdpxd Cpxd Chondrodystrophia Calcificans Congenita Conradi-Hunermann-Happle Syndrome X-Linked Chondrodysplasia Punctata Type 2 Chondrodysplasia Punctata, X-Linked Dominant Type
Trichothiodystrophy 1, Photosensitive	TTD1 Tay Syndrome Trichothiodystrophy With Congenital Ichthyosis Photosensitive Trichothiodystrophy Ibids Syndrome Ttdp Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation Ichthyosis, Congenital, With Trichothiodystrophy Pibids Syndrome Photosensitive Trichothiodystrophy 1 Trichothiodystrophy, Photosensitive Sulfur-Deficient Brittle Hair Syndrome Ttd-P Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature Trichothiodystrophy Photosensitive Trichothiodystrophy, Type 1 Tricho-Thiodystrophy Disorder Trichothiodystrophy Syndromes Amish Brittle Hair Brain Syndrome
Ichthyosis, Congenital, Autosomal Recessive 7	ARCI7 Autosomal Recessive Congenital Ichthyosis 7
Cicatricial Ectropion
Ichthyosis, X-Linked	X-Linked Ichthyosis Steroid Sulfatase Deficiency Placental Steroid Sulfatase Deficiency Steroid Sulfatase Deficiency Disease XLI Sts Deficiency Ssdd X-Linked Recessive Ichthyosis X-Linked Ichthyosis With Steryl-Sulphatase Deficiency X-Linked Placental Steryl-Sulphatase Deficiency Ssd X Linked Ichthyosis Recessive X-Linked Ichthyosis Rxli Syndromic Recessive X-Linked Ichthyosis Recessive X-Linked Ichthyosis With Extracutaneous Manifestations Syndromic Rxli X-Linked Ichthyosis Syndrome IXL Ichthyosis X-Linked Sex-Linked Ichthyosis X-Linked Ichthyosis With Steryl-Sulfatase Deficiency
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Child Syndrome Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs Child Nevus Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects Ichthyosis, Child Syndrome Child Syndrome Ichthyosis CHILD
Hypolipoproteinemia	Hypolipoproteinaemia Lipoprotein Deficiencies Lipoprotein Disorder Hypolipoproteinemias Lipoprotein Lipoprotein Deficiency Hypolipidaemia Lipoprotein Deficiency Disorder High-Density Lipoid Deficiency High-Density Lipoprotein Deficiency Dyslipidaemia, Depressed Hdl Cholesterol
Tangier Disease	Analphalipoproteinemia High Density Lipoprotein Deficiency, Tangier Type TGD High Density Lipoprotein Deficiency, Type 1 Hdldt1 Familial High Density Lipoprotein Deficiency A-Alphalipoprotein Neuropathy Alpha High Density Lipoprotein Deficiency Disease Cholesterol Thesaurismosis Familial High Density Lipoprotein Deficiency Disease Hdl Lipoprotein Deficiency Disease Tangier Disease Neuropathy Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency 1 Primary Hypoalphalipoproteinemia 1 Analphalipo-Proteinemia Familial Hypoalphalipo-Proteinemia Familial Hypoalphalipoproteinemia Lipoprotein Deficiency Disease, Hdl, Familial Tangier Hereditary Neuropathy Atp-Binding Cassette Transporter A1 Deficiency Hdld1 High Density Lipoprotein Deficiency 1 Tangier Disease, Variant Hypoalphalipoproteinemia, Familial Familial Hdl Deficiency
Erythrokeratodermia Variabilis Et Progressiva 1	Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis Et Progressiva Greither Disease Ekv Ekvp PSEK Erythrokeratodermia Variabilis With Erythema Gyratum Repens Keratosis Palmoplantaris Transgrediens Et Progrediens Transgrediens Et Progrediens Palmoplantar Keratoderma EKVP1 Erythrokeratodermia, Progressive Symmetric Erythrokeratodermia Figurata, Congenital Familial, In Plaques Keratoderma Palmoplantaris Transgrediens Keratosis Extremitatum Hereditaria Progrediens Erythrokeratodermia Variabilis, Mendes Da Costa Type Progressive Symmetric Erythrokeratodermia Erythrokeratodermia Figurata Variabilis Greither'S Disease Ekv-P Erythrokeratodermia Variabilis Of Mendes Da Costa Progressive Symmetrical Erythrokeratoderma Of Gottron Progressive Diffuse Ppk Progressive Diffuse Palmoplantar Keratoderma Transgrediens Et Progrediens Ppk Darier-Gottron Disease Erythrokeratodermia Progressiva Symmetrica Progressive Symmetric Erythrokeratodermia, Gottron Type Congenital Familial Erythrokeratodermia Figurata In Plaques Erythrokeratodermia Progressive Symmetric Erythrokeratodermia Variabilis Mendes Da Costa Type
Sitosterolemia	Phytosterolemia Beta-Sitosterolemia Plant Sterol Storage Disease Phytosterolæmia Sitosterolæmia Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body Phytosterolaemia Sitosterolaemia Sitosterolemia With Xanthomatosis
Physical Disorder	Physical Illness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00039	ABCA12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ABCA12	VGNC	VGNC:69401
Canis familiaris	ABCA12	VGNC	VGNC:37423
Bos taurus	ABCA12	VGNC	VGNC:25456
Rattus norvegicus	ABCA12	RGD	RGD:1304586
Felis catus	ABCA12	VGNC	VGNC:59462
Mus musculus	ABCA12	MGD	MGI:2676312
Others	ABCA12	NCBI