ABCA12 (ATP binding cassette subfamily A member 12)

Gene

• Entrez ID: 26154
• Gene name: ATP binding cassette subfamily A member 12
• Gene symbol: ABCA12
• Synonyms: ARCI4A, ARCI4B, ICR2B, LI2
• Chromosome: 2
• Chromosome location: 2q35
• 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 s

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 607800
• HGNC: 14637
• e!Ensembl: 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

• 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