Property Summary

NCBI Gene PubMed Count 30
Grant Count 9
R01 Count 5
Funding $791,494.4
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 0.000

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)
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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.
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