Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	26154
Gene name Gene Name - the full gene name approved by the HGNC.	ATP binding cassette subfamily A member 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ABCA12
Synonyms (NCBI Gene) Gene synonyms aliases	ARCI4A, ARCI4B, ICR2B, LI2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ARCI4A, ARCI4B
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q35
Summary Summary of gene provided in NCBI Entrez 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 s

Show/Hide all(37)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11891778	G>A,C,T	Likely-pathogenic, likely-benign, pathogenic, benign	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs28940268	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28940269	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28940270	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28940271	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28940568	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs114863111	G>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs142196906	T>A,C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs149243979	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs149399707	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs201542666	G>A,C,T	Likely-pathogenic	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant, genic upstream transcript variant
rs267606622	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs387906285	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs755391236	T>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs756771290	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs757520757	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs758568142	C>A,T	Likely-pathogenic	Splice donor variant
rs761557390	A>C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs762065937	C>G,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs763182554	A>C,G	Pathogenic	Splice donor variant
rs763481375	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs767707248	G>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs772046102	G>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs886039296	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1064794286	A>-,AA	Likely-pathogenic	Frameshift variant, coding sequence variant, stop gained, non coding transcript variant
rs1131691611	C>T	Pathogenic	Splice acceptor variant
rs1187032187	C>A,T	Pathogenic	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1553522866	G>C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553523037	C>G	Pathogenic	Splice donor variant
rs1553523093	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553523630	A>G	Likely-pathogenic	Splice donor variant
rs1553526002	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1559120651	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559134341	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1574955196	TC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1574984736	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575019786	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant

Show/Hide all(75)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017104	hsa-miR-335-5p	Microarray	18185580
MIRT661030	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT661029	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT661028	hsa-miR-1295b-5p	HITS-CLIP	23824327
MIRT661027	hsa-miR-1912	HITS-CLIP	23824327
MIRT661026	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT661025	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT661024	hsa-miR-660-5p	HITS-CLIP	23824327
MIRT661023	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT661022	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT661021	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT661019	hsa-miR-4287	HITS-CLIP	23824327
MIRT661020	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT661018	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT661017	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT661016	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT661015	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT661014	hsa-miR-1249-3p	HITS-CLIP	23824327
MIRT661030	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT661029	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT661028	hsa-miR-1295b-5p	HITS-CLIP	23824327
MIRT661027	hsa-miR-1912	HITS-CLIP	23824327
MIRT661026	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT661025	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT661024	hsa-miR-660-5p	HITS-CLIP	23824327
MIRT661023	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT661022	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT661021	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT661019	hsa-miR-4287	HITS-CLIP	23824327
MIRT661020	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT661018	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT661017	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT661016	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT661015	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT661014	hsa-miR-1249-3p	HITS-CLIP	23824327
MIRT757824	hsa-miR-320a	CLIP-seq
MIRT757825	hsa-miR-320b	CLIP-seq
MIRT757826	hsa-miR-320c	CLIP-seq
MIRT757827	hsa-miR-320d	CLIP-seq
MIRT757828	hsa-miR-329	CLIP-seq
MIRT757829	hsa-miR-3941	CLIP-seq
MIRT757830	hsa-miR-4429	CLIP-seq
MIRT757831	hsa-miR-4789-3p	CLIP-seq
MIRT757832	hsa-miR-568	CLIP-seq
MIRT757833	hsa-miR-603	CLIP-seq
MIRT757834	hsa-miR-643	CLIP-seq
MIRT1923524	hsa-miR-27a	CLIP-seq
MIRT1923525	hsa-miR-27b	CLIP-seq
MIRT2164979	hsa-miR-1184	CLIP-seq
MIRT2164980	hsa-miR-1301	CLIP-seq
MIRT1923524	hsa-miR-27a	CLIP-seq
MIRT1923525	hsa-miR-27b	CLIP-seq
MIRT2164981	hsa-miR-3065-3p	CLIP-seq
MIRT2164982	hsa-miR-3609	CLIP-seq
MIRT2164983	hsa-miR-361-3p	CLIP-seq
MIRT2164984	hsa-miR-3620	CLIP-seq
MIRT2164985	hsa-miR-377	CLIP-seq
MIRT2164986	hsa-miR-4291	CLIP-seq
MIRT2164987	hsa-miR-4643	CLIP-seq
MIRT2164988	hsa-miR-466	CLIP-seq
MIRT2164989	hsa-miR-4660	CLIP-seq
MIRT2164990	hsa-miR-4733-3p	CLIP-seq
MIRT2164991	hsa-miR-4760-3p	CLIP-seq
MIRT757831	hsa-miR-4789-3p	CLIP-seq
MIRT2164992	hsa-miR-499-3p	CLIP-seq
MIRT2164993	hsa-miR-499a-3p	CLIP-seq
MIRT2164994	hsa-miR-5047	CLIP-seq
MIRT2164995	hsa-miR-513a-5p	CLIP-seq
MIRT2164996	hsa-miR-548ah	CLIP-seq
MIRT2164997	hsa-miR-578	CLIP-seq
MIRT2164998	hsa-miR-579	CLIP-seq
MIRT2164999	hsa-miR-586	CLIP-seq
MIRT2441914	hsa-miR-1276	CLIP-seq
MIRT2441915	hsa-miR-4762-3p	CLIP-seq
MIRT2441916	hsa-miR-4766-5p	CLIP-seq

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IPI	23931754
GO:0005319	Function	Lipid transporter activity	IBA	21873635
GO:0005319	Function	Lipid transporter activity	IDA	16007253
GO:0005319	Function	Lipid transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	23931754
GO:0005524	Function	ATP binding	NAS	12697999
GO:0005737	Component	Cytoplasm	IDA	23931754
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	23931754
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IBA	21873635
GO:0006869	Process	Lipid transport	IDA	16007253
GO:0006869	Process	Lipid transport	NAS	12915478
GO:0010875	Process	Positive regulation of cholesterol efflux	IDA	23931754
GO:0016021	Component	Integral component of membrane	NAS	12697999
GO:0016887	Function	ATPase activity	IEA
GO:0019725	Process	Cellular homeostasis	NAS	12697999
GO:0031424	Process	Keratinization	IEA
GO:0032940	Process	Secretion by cell	IMP	16007253
GO:0033700	Process	Phospholipid efflux	IMP	23931754
GO:0034040	Function	ATPase-coupled lipid transmembrane transporter activity	IC	16007253
GO:0034191	Function	Apolipoprotein A-I receptor binding	IBA	21873635
GO:0034191	Function	Apolipoprotein A-I receptor binding	IPI	23931754
GO:0035627	Process	Ceramide transport	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0043129	Process	Surfactant homeostasis	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0045055	Process	Regulated exocytosis	IMP	16007253
GO:0048286	Process	Lung alveolus development	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0055088	Process	Lipid homeostasis	IEA
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0072659	Process	Protein localization to plasma membrane	IDA	23931754
GO:0072659	Process	Protein localization to plasma membrane	IMP	23931754
GO:0097209	Component	Epidermal lamellar body	IDA	16007253
GO:0098656	Process	Anion transmembrane transport	IEA
GO:2000010	Process	Positive regulation of protein localization to cell surface	IEA

MIM	HGNC	e!Ensembl
607800	14637	ENSG00000144452

Protein

UniProt ID

Q86UK0

Protein name

Glucosylceramide transporter ABCA12 (EC 7.6.2.1) (ATP-binding cassette sub-family A member 12) (ATP-binding cassette transporter 12) (ATP-binding cassette 12)

Protein function

Transports lipids such as glucosylceramides from the outer to the inner leaflet of lamellar granules (LGs) membrane, whereby the lipids are finally transported to the keratinocyte periphery via the trans-Golgi network and LGs and released to the

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12698	ABC2_membrane_3	896 → 1270		Family
PF00005	ABC_tran	1361 → 1507	ABC transporter	Domain
PF12698	ABC2_membrane_3	1744 → 2203		Family
PF00005	ABC_tran	2273 → 2418	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Mainly expressed in the stomach, placenta, testis and fetal brain (PubMed:12697999). Expressed in the upper epidermal layers, mainly the granular layers, of skin (PubMed:16007253, PubMed:17591952, PubMed:17927575). Expressed throughout

Sequence

MASLFHQLQILVWKNWLGVKRQPLWTLVLILWPVIIFIILAITRTKFPPTAKPTCYLAPR
NLPSTGFFPFLQTLLCDTDSKCKDTPYGPQDLLRRKGIDDALFKDSEILRKSSNLDKDSS
LSFQSTQVPERRHASLATVFPSPSSDLEIPGTYTFNGSQVLARILGLEKLLKQNSTSEDI
RRELCDSYSGYIVDDAFSWTFLGRNVFNKFCLSNMTLLESSLQELNKQFSQLSSDPNNQK
IVFQEIVRMLSFFSQVQEQKAVWQLLSSFPNVFQNDTSLSNLFDVLRKANSVLLVVQKVY
PRFATNEGFRTLQKSVKHLLYTLDSPAQGDSDNITHVWNEDDGQTLSPSSLAAQLLILEN
FEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFP
PVPEVLKSKLSQLRNLTELLCESETFSLIEKSCQLSDMSFGSLCEESEFDLQLLEAAELG
TEIAASLLYHDNVISKKVRDLLTGDPSKINLNMDQFLEQALQMNYLENITQLIPIIEAML
HVNNSADASEKPGQLLEMFKNVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVF
WLHSCDTNITTPKLEDAMKEFCNLSLSERSRQSYLIGLTLLHYLNIYNFTYKVFFPRKDQ
KPVEKMMELFIRLKEILNQMASGTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQG
SFSTISQALCSQGITTEYLTAMLPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPF
CFSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQ
EWMDKSPLFMNSFHLLNQAIPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDELDILRLK
LENNIDIIDQLNTLSSLTVNISSCVLYDRIQAAKTIDEMEREAKRLYKSNELFGSVIFKL
PSNRSWHRGYDSGNVFLPPVIKYTIRMSLKTAQTTRSLRTKIWAPGPHNSPSHNQIYGRA
FIYLQDSIERAIIELQTGRNSQEIAVQVQAIPYPCFMKDNFLTSVSYSLPIVLMVAWVVF
IAAFVKKLVYEKDLRLHEYMKMMGVNSCSHFFAWLIESVGFLLVTIVILIIILKFGNILP
KTNGFILFLYFSDYSFSVIAMSYLISVFFNNTNIAALIGSLIYIIAFFPFIVLVTVENEL
SYVLKVFMSLLSPTAFSYASQYIARYEEQGIGLQWENMYTSPVQDDTTSFGWLCCLILAD
SFIYFLIAWYVRNVFPGTYGMAAPWYFPILPSYWKERFGCAEVKPEKSNGLMFTNIMMQN
TNPSASPEYMFSSNIEPEPKDLTVGVALHGVTKIYGSKVAVDNLNLNFYEGHITSLLGPN
GAGKTTTISMLTGLFGASAGTIFVYGKDIKTDLHTVRKNMGVCMQHDVLFSYLTTKEHLL
LYGSIKVPHWTKKQLHEEVKRTLKDTGLYSHRHKRVGTLSGGMKRKLSISIALIGGSRVV
ILDEPSTGVDPCSRRSIWDVISKNKTARTIILSTHHLDEAEVLSDRIAFLEQGGLRCCGS
PFYLKEAFGDGYHLTLTKKKSPNLNANAVCDTMAVTAMIQSHLPEAYLKEDIGGELVYVL
PPFSTKVSGAYLSLLRALDNGMGDLNIGCYGISDTTVEEVFLNLTKESQKNSAMSLEHLT
QKKIGNSNANGISTPDDLSVSSSNFTDRDDKILTRGERLDGFGLLLKKIMAILIKRFHHT
RRNWKGLIAQVILPIVFVTTAMGLGTLRNSSNSYPEIQISPSLYGTSEQTAFYANYHPST
EALVSAMWDFPGIDNMCLNTSDLQCLNKDSLEKWNTSGEPITNFGVCSCSENVQECPKFN
YSPPHRRTYSSQVIYNLTGQRVENYLISTANEFVQKRYGGWSFGLPLTKDLRFDITGVPA
NRTLAKVWYDPEGYHSLPAYLNSLNNFLLRVNMSKYDAARHGIIMYSHPYPGVQDQEQAT
ISSLIDILVALSILMGYSVTTASFVTYVVREHQTKAKQLQHISGIGVTCYWVTNFIYDMV
FYLVPVAFSIGIIAIFKLPAFYSENNLGAVSLLLLLFGYATFSWMYLLAGLFHETGMAFI
TYVCVNLFFGINSIVSLSVVYFLSKEKPNDPTLELISETLKRIFLIFPQFCFGYGLIELS
QQQSVLDFLKAYGVEYPNETFEMNKLGAMFVALVSQGTMFFSLRLLINESLIKKLRLFFR
KFNSSHVRETIDEDEDVRAERLRVESGAAEFDLVQLYCLTKTYQLIHKKIIAVNNISIGI
PAGECFGLLGVNGAGKTTIFKMLTGDIIPSSGNILIRNKTGSLGHVDSHSSLVGYCPQED
ALDDLVTVEEHLYFYARVHGIPEKDIKETVHKLLRRLHLMPFKDRATSMCSYGTKRKLST
ALALIGKPSILLLDEPSSGMDPKSKRHLWKIISEEVQNKCSVILTSHSMEECEALCTRLA
IMVNGKFQCIGSLQHIKSRFGRGFTVKVHLKNNKVTMETLTKFMQLHFPKTYLKDQHLSM
LEYHVPVTAGGVANIFDLLETNKTALNITNFLVSQTTLEEVFINFAKDQKSYETADTSSQ
GSTISVDSQDDQMES

Sequence length

2595

Interactions

View interactions

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Evidence	Source
Unknown
Congenital Ichthyosis	autosomal recessive congenital ichthyosis 4B, autosomal recessive congenital ichthyosis 4A		GenCC
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.	GWAS, CBGDA

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text Mining
Cataract and congenital ichthyosis	Associate	25338618, 30916489, 35964051, 38576105
Chanarin Dorfman Syndrome	Associate	37752865
Cognition Disorders	Associate	34039366
Colonic Neoplasms	Associate	33428592
Ear Diseases	Associate	29880184
Ectropion	Associate	29880184
Epithelial Squamous Dysplasia Keratinizing Desquamative of Urinary Tract	Associate	37752865
Erythema	Associate	31046801
Erythrokeratodermia Variabilis	Associate	37762265
Glut1 Deficiency Syndrome	Associate	19429679
Harlequin syndrome	Associate	31046801
Hypotrichosis	Associate	35964051
Ichthyosiform Erythroderma Congenital	Associate	24612573, 30916489, 36980989, 37752865, 38576105
Ichthyosis	Associate	16007253, 23689228, 27025581, 30916489, 31046801, 34039366, 34983512, 37752865, 37762265, 38576105
Ichthyosis Lamellar	Associate	15756637, 16007253, 16675967, 16902423, 17611579, 19179616, 19429679, 24612573, 29298786, 29630152, 29880184, 30600594, 30916489, 32544098, 34039366 View all (4 more)
Jagell Holmgren Hofer syndrome	Associate	31046801
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Associate	34983512
Lamellar ichthyosis type 2	Associate	16007253
Lamellar ichthyosis type 3	Associate	25338618, 29630152, 30600594, 34983512, 36980989
Li Fraumeni Syndrome	Associate	36980989
Lymphedema	Associate	35964051
Neoplasms Basal Cell	Associate	25921176
Netherton Syndrome	Associate	31046801
Nose Diseases	Associate	29880184
Pinheiro Freire Maia Miranda syndrome	Associate	34039366
Pityriasis Rubra Pilaris	Associate	37752865
Skin Diseases	Associate	15756637, 16902423, 17611579, 19429679, 34039366
Thyroid Neoplasms	Associate	37932340
Urinary Bladder Neoplasms	Associate	25921176

ABCA12 (ATP binding cassette subfamily A member 12)