Property Summary

NCBI Gene PubMed Count 30
PubMed Score 58.91
PubTator Score 42.60

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.100 6.2e-19

Gene RIF (19)

PMID Text
27349084 mother of Case 2 also had a mutation in the ALX4 gene, but no enlarged parietal foramina
25944620 Our results show that HOXB13/SLUG and ALX4/SLUG axes are novel pathways that promote EMT and invasion of ovarian cancer cells.
24941917 High-quality solution NMR structures of three homeodomains from human proteins ALX4, ZHX1 and CASP8AP2 were solved.
24764194 We suggest that all ALX4 heterozygote carriers be examined in detail for possible changes in nasal configuration, to establish a detailed genotype-phenotype correlation, leading the way to more comprehensive genetic counseling.
24037716 Epigenetic silencing of Aristaless-like homeobox-4 is associated with lung cancer.
23401352 study describes 2 related individuals with a heterozygous mutation in ALX4 presenting a distinct phenotype of frontonasal dysplasia; suggest that the loss of the ALX4 OAR domain with the maintenance of the homeodomain impairs the function of the normal allele in a dominant-negative effect
22829454 ALX4 variants may have an impact on the genetic etiology of nonsyndromic craniosynostosis.
22496059 Exclusion of mutations in ALX4 gene in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies
20879858 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20625746 Downregulation of HoxB2, HoxB4 and Alx4 expression during the narrow window of early embryogenesis may cause omphalocele in the Cd chick model by interfering with molecular signaling required for proper VBW formation.
20140221 Data show that methylated DNA from advanced precancerous colorectal lesions can be detected using a panel of two DNA methylation markers, ALX4 and SEPT9.
19783719 data show a distinct pattern of expression of ALX4 in the human breast relative to the murine mammary gland, and the loss of ALX4 in tumours and the surrounding untransformed stroma is a basic characteristic of ductal carcinoma.
19692347 ALX4 plays a critical role in craniofacial and epidermal development.
19336475 Observational study of gene-disease association. (HuGE Navigator)
17293876 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
16415175 Observational study of gene-disease association. (HuGE Navigator)
16319823 The ALX4 mutation p.R218Q tends to result in persistent cranium bifidum and is associated with anatomical abnormalities of the posterior fossa.
15852040 One subject with parietal foramina whose deletion does not include ALX4 indicates that ALX4 in this subject may be rendered functionally haploinsufficient by a position effect.

AA Sequence

MNAETCVSYCESPAAAMDAYYSPVSQSREGSSPFRAFPGGDKFGTTFLSAAAKAQGFGDAKSRARYGAGQ      1 - 70
QDLATPLESGAGARGSFNKFQPQPSTPQPQPPPQPQPQQQQPQPQPPAQPHLYLQRGACKTPPDGSLKLQ     71 - 140
EGSSGHSAALQVPCYAKESSLGEPELPPDSDTVGMDSSYLSVKEAGVKGPQDRASSDLPSPLEKADSESN    141 - 210
KGKKRRNRTTFTSYQLEELEKVFQKTHYPDVYAREQLAMRTDLTEARVQVWFQNRRAKWRKRERFGQMQQ    211 - 280
VRTHFSTAYELPLLTRAENYAQIQNPSWLGNNGAASPVPACVVPCDPVPACMSPHAHPPGSGASSVTDFL    281 - 350
SVSGAGSHVGQTHMGSLFGAASLSPGLNGYELNGEPDRKTSSIAALRMKAKEHSAAISWAT             351 - 411
//

Text Mined References (31)

PMID Year Title
27349084 2016 [Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].
25944620 2015 HOXB13 and ALX4 induce SLUG expression for the promotion of EMT and cell invasion in ovarian cancer cells.
24941917 2014 Solution NMR structures of homeodomains from human proteins ALX4, ZHX1, and CASP8AP2 contribute to the structural coverage of the Human Cancer Protein Interaction Network.
24764194 2014 Mild nasal clefting may be predictive for ALX4 heterozygotes.
24165912 2013 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
24037716 2014 Epigenetic silencing of Aristaless-like homeobox-4, a potential tumor suppressor gene associated with lung cancer.
23401352 2013 Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22829454 2012 ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
22496059 2012 Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies.
20879858 2010 Impact of single nucleotide polymorphisms and of clinical risk factors on new?onset diabetes mellitus in HIV?infected individuals.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20625746 2010 HoxB2, HoxB4 and Alx4 genes are downregulated in the cadmium-induced omphalocele in the chick model.
20140221 2010 Performance of epigenetic markers SEPT9 and ALX4 in plasma for detection of colorectal precancerous lesions.
19783719 2009 Loss of ALX4 expression in epithelial cells and adjacent stromal cells in breast cancer.
19692347 2009 ALX4 dysfunction disrupts craniofacial and epidermal development.
19336475 2009 Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
17293876 2007 A genome-wide association study identifies novel risk loci for type 2 diabetes.
16415175 2006 High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.
16319823 2006 Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
15852040 2005 Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
11903336 2001 Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.
11696550 2002 Alx4 binding to LEF-1 regulates N-CAM promoter activity.
11347906 2001 Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
11137991 2001 Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
11106354 2000 The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).
11017806 2000 Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.
9847249 1999 Physical and genetic interactions between Alx4 and Cart1.
8644736 1996 Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
8558565 1995 WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).