• Gene id: 26154

Gene Summary

• Gene Symbol: ABCA12   Gene   UCSC   Ensembl
• Aliases: ARCI4A, ARCI4B, ICR2B, LI2
• Gene name: ATP binding cassette subfamily A member 12
• Alternate names: ATP-binding cassette sub-family A member 12, ATP-binding cassette transporter 12, ATP-binding cassette, sub-family A (ABC1), member 12,
• Gene location: 2q35 (149970894: 149964903)     Exons: 3     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 607800

Protein Summary

• Protein general information: Q86UK0  
  • Name: ATP binding cassette sub family A member 12 (ATP binding cassette transporter 12) (ATP binding cassette 12)
  • Length: 2595  
  • Mass: 293237
  • Tissue specificity: Mainly expressed in the stomach, placenta, testis and fetal brain. {ECO
• Sequence:

  MASLFHQLQILVWKNWLGVKRQPLWTLVLILWPVIIFIILAITRTKFPPTAKPTCYLAPRNLPSTGFFPFLQTLL
  CDTDSKCKDTPYGPQDLLRRKGIDDALFKDSEILRKSSNLDKDSSLSFQSTQVPERRHASLATVFPSPSSDLEIP
  GTYTFNGSQVLARILGLEKLLKQNSTSEDIRRELCDSYSGYIVDDAFSWTFLGRNVFNKFCLSNMTLLESSLQEL
  NKQFSQLSSDPNNQKIVFQEIVRMLSFFSQVQEQKAVWQLLSSFPNVFQNDTSLSNLFDVLRKANSVLLVVQKVY
  PRFATNEGFRTLQKSVKHLLYTLDSPAQGDSDNITHVWNEDDGQTLSPSSLAAQLLILENFEDALLNISANSPYI
  PYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFPPVPEVLKSKLSQLRNLTELLCESETFSLIE
  KSCQLSDMSFGSLCEESEFDLQLLEAAELGTEIAASLLYHDNVISKKVRDLLTGDPSKINLNMDQFLEQALQMNY
  LENITQLIPIIEAMLHVNNSADASEKPGQLLEMFKNVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVF
  WLHSCDTNITTPKLEDAMKEFCNLSLSERSRQSYLIGLTLLHYLNIYNFTYKVFFPRKDQKPVEKMMELFIRLKE
  ILNQMASGTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQGSFSTISQALCSQGITTEYLTAMLPSSQRPK
  GNHTKDFLTYKLTKEQIASKYGIPINSTPFCFSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKAIMEKS
  NVTLRQLAELREKSQEWMDKSPLFMNSFHLLNQAIPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDELDILRLK
  LENNIDIIDQLNTLSSLTVNISSCVLYDRIQAAKTIDEMEREAKRLYKSNELFGSVIFKLPSNRSWHRGYDSGNV
  FLPPVIKYTIRMSLKTAQTTRSLRTKIWAPGPHNSPSHNQIYGRAFIYLQDSIERAIIELQTGRNSQEIAVQVQA
  IPYPCFMKDNFLTSVSYSLPIVLMVAWVVFIAAFVKKLVYEKDLRLHEYMKMMGVNSCSHFFAWLIESVGFLLVT
  IVILIIILKFGNILPKTNGFILFLYFSDYSFSVIAMSYLISVFFNNTNIAALIGSLIYIIAFFPFIVLVTVENEL
  SYVLKVFMSLLSPTAFSYASQYIARYEEQGIGLQWENMYTSPVQDDTTSFGWLCCLILADSFIYFLIAWYVRNVF
  PGTYGMAAPWYFPILPSYWKERFGCAEVKPEKSNGLMFTNIMMQNTNPSASPEYMFSSNIEPEPKDLTVGVALHG
  VTKIYGSKVAVDNLNLNFYEGHITSLLGPNGAGKTTTISMLTGLFGASAGTIFVYGKDIKTDLHTVRKNMGVCMQ
  HDVLFSYLTTKEHLLLYGSIKVPHWTKKQLHEEVKRTLKDTGLYSHRHKRVGTLSGGMKRKLSISIALIGGSRVV
  ILDEPSTGVDPCSRRSIWDVISKNKTARTIILSTHHLDEAEVLSDRIAFLEQGGLRCCGSPFYLKEAFGDGYHLT
  LTKKKSPNLNANAVCDTMAVTAMIQSHLPEAYLKEDIGGELVYVLPPFSTKVSGAYLSLLRALDNGMGDLNIGCY
  GISDTTVEEVFLNLTKESQKNSAMSLEHLTQKKIGNSNANGISTPDDLSVSSSNFTDRDDKILTRGERLDGFGLL
  LKKIMAILIKRFHHTRRNWKGLIAQVILPIVFVTTAMGLGTLRNSSNSYPEIQISPSLYGTSEQTAFYANYHPST
  EALVSAMWDFPGIDNMCLNTSDLQCLNKDSLEKWNTSGEPITNFGVCSCSENVQECPKFNYSPPHRRTYSSQVIY
  NLTGQRVENYLISTANEFVQKRYGGWSFGLPLTKDLRFDITGVPANRTLAKVWYDPEGYHSLPAYLNSLNNFLLR
  VNMSKYDAARHGIIMYSHPYPGVQDQEQATISSLIDILVALSILMGYSVTTASFVTYVVREHQTKAKQLQHISGI
  GVTCYWVTNFIYDMVFYLVPVAFSIGIIAIFKLPAFYSENNLGAVSLLLLLFGYATFSWMYLLAGLFHETGMAFI
  TYVCVNLFFGINSIVSLSVVYFLSKEKPNDPTLELISETLKRIFLIFPQFCFGYGLIELSQQQSVLDFLKAYGVE
  YPNETFEMNKLGAMFVALVSQGTMFFSLRLLINESLIKKLRLFFRKFNSSHVRETIDEDEDVRAERLRVESGAAE
  FDLVQLYCLTKTYQLIHKKIIAVNNISIGIPAGECFGLLGVNGAGKTTIFKMLTGDIIPSSGNILIRNKTGSLGH
  VDSHSSLVGYCPQEDALDDLVTVEEHLYFYARVHGIPEKDIKETVHKLLRRLHLMPFKDRATSMCSYGTKRKLST
  ALALIGKPSILLLDEPSSGMDPKSKRHLWKIISEEVQNKCSVILTSHSMEECEALCTRLAIMVNGKFQCIGSLQH
  IKSRFGRGFTVKVHLKNNKVTMETLTKFMQLHFPKTYLKDQHLSMLEYHVPVTAGGVANIFDLLETNKTALNITN
  FLVSQTTLEEVFINFAKDQKSYETADTSSQGSTISVDSQDDQMES

• Structural information:
  • Protein Domains: (1346..157-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (2254..248-)
    2 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR003439  IPR017871  IPR026082  IPR030371   IPR027417  
  • Prosite: PS00211 PS50893
  • STRING: ENSP00000272895
• Other Databases: GeneCards:  ABCA12  Malacards:  ABCA12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005319	lipid transporter activity	IBA	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0006869	lipid transport	IBA	biological process
GO:0034191	apolipoprotein A-I receptor binding	IBA	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006869	lipid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005319	lipid transporter activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043129	surfactant homeostasis	IEA	biological process
GO:0010875	positive regulation of cholesterol efflux	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:2000010	positive regulation of protein localization to cell surface	IEA	biological process
GO:0061436	establishment of skin barrier	IEA	biological process
GO:0055088	lipid homeostasis	IEA	biological process
GO:0048286	lung alveolus development	IEA	biological process
GO:0035627	ceramide transport	IEA	biological process
GO:0031424	keratinization	IEA	biological process
GO:0030216	keratinocyte differentiation	IEA	biological process
GO:0034040	ATPase-coupled lipid transmembrane transporter activity	IC	molecular function
GO:0005319	lipid transporter activity	IDA	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0034191	apolipoprotein A-I receptor binding	IPI	molecular function
GO:0010875	positive regulation of cholesterol efflux	IDA	biological process
GO:0072659	protein localization to plasma membrane	IDA	biological process
GO:0097209	epidermal lamellar body	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006869	lipid transport	IDA	biological process
GO:0045055	regulated exocytosis	IMP	biological process
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0032940	secretion by cell	IMP	biological process
GO:0033700	phospholipid efflux	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006869	lipid transport	NAS	biological process
GO:0019725	cellular homeostasis	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005524	ATP binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Autosomal recessive congenital ichthyosis	KEGG:H00734
Harlequin ichthyosis	KEGG:H00733
Autosomal recessive congenital ichthyosis	KEGG:H00734
Harlequin ichthyosis	KEGG:H00733
Autosomal recessive congenital ichthyosis 1	PMID:12915478
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq