Property Summary

NCBI Gene PubMed Count 36
Grant Count 13
R01 Count 4
Funding $1,007,750.46
PubMed Score 199.58
PubTator Score 192.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis 2.300 0.000
periodontitis -1.200 0.000
lung adenocarcinoma 1.800 0.000
lung carcinoma 1.500 0.000
non-small cell lung carcinoma 1.400 0.000
Breast cancer 1.500 0.001
ulcerative colitis 2.500 0.003

Gene RIF (27)

PMID Text
25563821 Autosomal recessive inheritance of mutations in the ATP-binding cassette, subfamily A, member 12 (ABCA12, OMIM*607800, chromosome 2q35) gene was found to be responsible for the disease.
25479012 Ssnger sequencing of the parents of neonates deceased patients with Harlequin ichthyosis identified novel mutations in ABCA12 gene.
25338618 Identification of the key promoter element of ABCA12 in this study may provide relevant information for genetic diagnosis of recessive congenital ichthyosis.
23954554 ABCA12 mutations result in defective lipid transport via lamellar granules in the keratinocytes, leading to ichthyosis phenotypes from malformation of the stratum corneum lipid barrier.
23528209 Report a consanguineous family of Arab Muslim origin with several members displaying a severe form of congenital ichthyosiform erythroderma. Identified a region of homozygosity shared by all patients on 2q34, in a region harbouring the ABCA12 gene.
22257947 We show that homozygosity for a novel c.4676G>T transition in the ABCA12 gene, resulting in a p.G1559V substitution, causes non-bullous congenital ichthyosiform erythroderms in 5 members of an extended family.
21798141 The researchers report on another fatal case of Harlequin ichthyosis that may be associated with mutations of the ABCA12 gene
21712002 The authors report on a 2282del4 mutation that may be associated with ichthyosis vulgaris in a Pakistani population.
21633372 AKT signaling helps ABCA12 deficient keratinocytes survive during the keratinization process.
21339420 Mutation analysis revealed that 52% of the survivors of harlequin ichthyosis had compound heterozygous mutations of ABCA12, whereas all deaths were associated with homozygous mutations of ABCA12.
More...

AA Sequence

MASLFHQLQILVWKNWLGVKRQPLWTLVLILWPVIIFIILAITRTKFPPTAKPTCYLAPRNLPSTGFFPF      1 - 70
LQTLLCDTDSKCKDTPYGPQDLLRRKGIDDALFKDSEILRKSSNLDKDSSLSFQSTQVPERRHASLATVF     71 - 140
PSPSSDLEIPGTYTFNGSQVLARILGLEKLLKQNSTSEDIRRELCDSYSGYIVDDAFSWTFLGRNVFNKF    141 - 210
CLSNMTLLESSLQELNKQFSQLSSDPNNQKIVFQEIVRMLSFFSQVQEQKAVWQLLSSFPNVFQNDTSLS    211 - 280
NLFDVLRKANSVLLVVQKVYPRFATNEGFRTLQKSVKHLLYTLDSPAQGDSDNITHVWNEDDGQTLSPSS    281 - 350
LAAQLLILENFEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFP    351 - 420
PVPEVLKSKLSQLRNLTELLCESETFSLIEKSCQLSDMSFGSLCEESEFDLQLLEAAELGTEIAASLLYH    421 - 490
DNVISKKVRDLLTGDPSKINLNMDQFLEQALQMNYLENITQLIPIIEAMLHVNNSADASEKPGQLLEMFK    491 - 560
NVEELKEDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVFWLHSCDTNITTPKLEDAMKEFCNLSLSERS    561 - 630
RQSYLIGLTLLHYLNIYNFTYKVFFPRKDQKPVEKMMELFIRLKEILNQMASGTHPLLDKMRSLKQMHLP    631 - 700
RSVPLTQAMYRSNRMNTPQGSFSTISQALCSQGITTEYLTAMLPSSQRPKGNHTKDFLTYKLTKEQIASK    701 - 770
YGIPINSTPFCFSLYKDIINMPAGPVIWAFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQ    771 - 840
EWMDKSPLFMNSFHLLNQAIPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDELDILRLKLENNIDIIDQ    841 - 910
LNTLSSLTVNISSCVLYDRIQAAKTIDEMEREAKRLYKSNELFGSVIFKLPSNRSWHRGYDSGNVFLPPV    911 - 980
IKYTIRMSLKTAQTTRSLRTKIWAPGPHNSPSHNQIYGRAFIYLQDSIERAIIELQTGRNSQEIAVQVQA    981 - 1050
IPYPCFMKDNFLTSVSYSLPIVLMVAWVVFIAAFVKKLVYEKDLRLHEYMKMMGVNSCSHFFAWLIESVG   1051 - 1120
FLLVTIVILIIILKFGNILPKTNGFILFLYFSDYSFSVIAMSYLISVFFNNTNIAALIGSLIYIIAFFPF   1121 - 1190
IVLVTVENELSYVLKVFMSLLSPTAFSYASQYIARYEEQGIGLQWENMYTSPVQDDTTSFGWLCCLILAD   1191 - 1260
SFIYFLIAWYVRNVFPGTYGMAAPWYFPILPSYWKERFGCAEVKPEKSNGLMFTNIMMQNTNPSASPEYM   1261 - 1330
FSSNIEPEPKDLTVGVALHGVTKIYGSKVAVDNLNLNFYEGHITSLLGPNGAGKTTTISMLTGLFGASAG   1331 - 1400
TIFVYGKDIKTDLHTVRKNMGVCMQHDVLFSYLTTKEHLLLYGSIKVPHWTKKQLHEEVKRTLKDTGLYS   1401 - 1470
HRHKRVGTLSGGMKRKLSISIALIGGSRVVILDEPSTGVDPCSRRSIWDVISKNKTARTIILSTHHLDEA   1471 - 1540
EVLSDRIAFLEQGGLRCCGSPFYLKEAFGDGYHLTLTKKKSPNLNANAVCDTMAVTAMIQSHLPEAYLKE   1541 - 1610
DIGGELVYVLPPFSTKVSGAYLSLLRALDNGMGDLNIGCYGISDTTVEEVFLNLTKESQKNSAMSLEHLT   1611 - 1680
QKKIGNSNANGISTPDDLSVSSSNFTDRDDKILTRGERLDGFGLLLKKIMAILIKRFHHTRRNWKGLIAQ   1681 - 1750
VILPIVFVTTAMGLGTLRNSSNSYPEIQISPSLYGTSEQTAFYANYHPSTEALVSAMWDFPGIDNMCLNT   1751 - 1820
SDLQCLNKDSLEKWNTSGEPITNFGVCSCSENVQECPKFNYSPPHRRTYSSQVIYNLTGQRVENYLISTA   1821 - 1890
NEFVQKRYGGWSFGLPLTKDLRFDITGVPANRTLAKVWYDPEGYHSLPAYLNSLNNFLLRVNMSKYDAAR   1891 - 1960
HGIIMYSHPYPGVQDQEQATISSLIDILVALSILMGYSVTTASFVTYVVREHQTKAKQLQHISGIGVTCY   1961 - 2030
WVTNFIYDMVFYLVPVAFSIGIIAIFKLPAFYSENNLGAVSLLLLLFGYATFSWMYLLAGLFHETGMAFI   2031 - 2100
TYVCVNLFFGINSIVSLSVVYFLSKEKPNDPTLELISETLKRIFLIFPQFCFGYGLIELSQQQSVLDFLK   2101 - 2170
AYGVEYPNETFEMNKLGAMFVALVSQGTMFFSLRLLINESLIKKLRLFFRKFNSSHVRETIDEDEDVRAE   2171 - 2240
RLRVESGAAEFDLVQLYCLTKTYQLIHKKIIAVNNISIGIPAGECFGLLGVNGAGKTTIFKMLTGDIIPS   2241 - 2310
SGNILIRNKTGSLGHVDSHSSLVGYCPQEDALDDLVTVEEHLYFYARVHGIPEKDIKETVHKLLRRLHLM   2311 - 2380
PFKDRATSMCSYGTKRKLSTALALIGKPSILLLDEPSSGMDPKSKRHLWKIISEEVQNKCSVILTSHSME   2381 - 2450
ECEALCTRLAIMVNGKFQCIGSLQHIKSRFGRGFTVKVHLKNNKVTMETLTKFMQLHFPKTYLKDQHLSM   2451 - 2520
LEYHVPVTAGGVANIFDLLETNKTALNITNFLVSQTTLEEVFINFAKDQKSYETADTSSQGSTISVDSQD   2521 - 2590
DQMES                                                                    2591 - 2595
//

Text Mined References (40)

PMID Year Title
25563821 2015 A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis.
25479012 2015 Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.
25338618 2014 A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes.
24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
23954554 2014 The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.
23931754 2013 ABCA12 regulates ABCA1-dependent cholesterol efflux from macrophages and the development of atherosclerosis.
23528209 2013 The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.
22257947 Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.
21798141 2011 Harlequin ichthyosis in two siblings.
21712002 2011 Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families.
More...