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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALX4 Gene

protein-coding   GIFtS: 57
GCID: GC11M044238

ALX Homeobox 4

(Previous names: parietal foramina 2, aristaless-like homeobox 4)
(Previous symbol: PFM2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ALX Homeobox 41 2     Homeobox Protein Aristaless-Like 42
Aristaless-Like Homeobox 41 2     Homeodomain Transcription Factor ALX42
PFM21 5     KIAA17883
FND22 5     FPP5
Parietal Foramina 21     

External Ids:    HGNC: 4501   Entrez Gene: 605292   Ensembl: ENSG000000528507   OMIM: 6054205   UniProtKB: Q9H1613   

Export aliases for ALX4 gene to outside databases

Previous GC identifers: GC11P045601 GC11M044967 GC11M044321 GC11M044246 GC11M043991


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ALX4 Gene:
This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones,
limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal
dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause
a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial
development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of
chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome
characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in
males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart.
(provided by RefSeq, Oct 2009)

GeneCards Summary for ALX4 Gene: 
ALX4 (ALX homeobox 4) is a protein-coding gene. Diseases associated with ALX4 include potocki-shaffer syndrome, and parietal foramina 2. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ALX1.

UniProtKB/Swiss-Prot: ALX4_HUMAN, Q9H161
Function: Transcription factor involved in skull and limb development. Plays an essential role in craniofacial
development, skin and hair follicle development

Gene Wiki entry for ALX4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALX4 gene promoter:
         LHX3b/Lhx3b   MyoD   POU6F1 (c2)   NF-kappaB   GATA-1   MZF-1   Pax-3   FOXC1   LHX3a/Lhx3a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALX4 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALX4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALX4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

ALX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALX4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M044238:  view genomic region     (about GC identifiers)

Start:
44,281,994 bp from pter      End:
44,331,716 bp from pter
Size:
49,723 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ALX4_HUMAN, Q9H161 (See protein sequence)
Recommended Name: Homeobox protein aristaless-like 4  
Size: 411 amino acids; 44241 Da
Subunit: Binds DNA (By similarity)
Subcellular location: Nucleus
Sequence caution: Sequence=AAG23961.1; Type=Frameshift; Positions=314, 323, 340; Sequence=BAB47417.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for ALX4:
2M0C (3D)    
Secondary accessions: Q96JN7 Q9H198 Q9HAY9

Explore the universe of human proteins at neXtProt for ALX4: NX_Q9H161

Explore proteomics data for ALX4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H161

  • ALX4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALX4 Protein Expression
    REFSEQ proteins: NP_068745.2  
    ENSEMBL proteins: 
     ENSP00000332744  

    Human Recombinant Protein Products for ALX4: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ALX4 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11137991
    GO:0005667transcription factor complex IEA--

    ALX4 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for ALX4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PRD: Homeoboxes / PRD class

    4 InterPro protein domains:
     IPR003654 OAR_dom
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q9H161

    ProtoNet protein and cluster: Q9H161

    1 Blocks protein domain: IPB003654 Paired-like homeodomain protein

    UniProtKB/Swiss-Prot: ALX4_HUMAN, Q9H161
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    ALX4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALX4_HUMAN, Q9H161
    Function: Transcription factor involved in skull and limb development. Plays an essential role in craniofacial
    development, skin and hair follicle development

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS11137991
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046982protein heterodimerization activity IEA--
         
    ALX4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ALX4:
     Increased S DNA content 

         13 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Alx4):
     behavior/neurological  craniofacial  digestive/alimentary  growth/size  integument 
     limbs/digits/tail  mortality/aging  muscle  nervous system  normal 
     respiratory system  skeleton  vision/eye 

    ALX4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Alx4tm1Rwi for ALX4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ALX4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ALX4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALX4 
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    SwitchGear 3'UTR luciferase reporter plasmidALX4 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALX4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ALX4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/39 Interacting proteins for ALX4 (Q9H1613 ENSP000003327444) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HOXB13Q928263, ENSP000002902954I2D: score=2 STRING: ENSP00000290295
    HOXB6P175093, ENSP000002256484I2D: score=1 STRING: ENSP00000225648
    ALX1Q156993, ENSP000003154174I2D: score=1 STRING: ENSP00000315417
    LEF1Q9UJU23, ENSP000002651654I2D: score=3 STRING: ENSP00000265165
    SOX10P566933, ENSP000003541304I2D: score=1 STRING: ENSP00000354130
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development NAS11106354
    GO:0001942hair follicle development IMP19692347
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006357regulation of transcription from RNA polymerase II promoter ----

    ALX4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ALX4

    Search CenterWatch for drugs/clinical trials and news about ALX4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ALX4 gene: 
    NM_021926.3  

    Unigene Cluster for ALX4:

    ALX homeobox 4
    Hs.436055  [show with all ESTs]
    Unigene Representative Sequence: AB058691
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000329255(uc001myb.3)
    miRNA
    Products:
         
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    8/75 QIAGEN miScript miRNA Assays for microRNAs that regulate ALX4 (see all 75):
    hsa-miR-4254 hsa-miR-520e hsa-miR-146a hsa-miR-199a-3p hsa-miR-15a hsa-miR-106a hsa-miR-93 hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidALX4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALX4
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALX4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALX4

    Additional mRNA sequence: 

    AB058691.1 AF294629.1 AJ404888.1 AK092346.1 

    2 DOTS entries:

    DT.91966405  DT.100742378 

    11 AceView cDNA sequences:

    BX279585 CA396504 AK092346 AW071529 AF294629 AB058691 NM_021926 AJ404888 
    AW241355 AW613995 BV175889 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALX4 expression in normal human tissues (normalized intensities)      ALX4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCAAAATG
    ALX4 Expression
    About this image


    ALX4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Progress Zone Cells Limb Bud
             Limb Bud
             limb/hindlimb   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Progress Zone Cells Limb Bud
             skeleton/cranium   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Muscle satellite Cells Extraocular Muscles
             Extraocular Muscles
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             retinal progenitor cell e16.5   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Progress Zone Cells Limb Bud
             skeleton/cranium   

    See ALX4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALX4

    SOURCE GeneReport for Unigene cluster: Hs.436055

    UniProtKB/Swiss-Prot: ALX4_HUMAN, Q9H161
    Tissue specificity: Expression is likely to be restricted to bone. Found in parietal bone

        SABiosciences Expression via Pathway-Focused PCR Array including ALX4: 
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALX4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ALX4 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alx41 , 5 aristaless-like homeobox 41, 5 88.72(n)1
    93.23(a)1
      2 (51.62 cM)5
    116951  NM_007442.31  NP_031468.11 
     936423845 
    chicken
    (Gallus gallus)
    Aves ALX41 ALX homeobox 4 78.61(n)
    78.7(a)
      373976  NM_204162.1  NP_989493.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALX46
    Uncharacterized protein
    82(a)
    1 ↔ 1
    1(45706675-45759496)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.165932 Xenopus laevis transcribed sequence with moderate similarity more 85.42(n)    BJ061412.1 
    zebrafish
    (Danio rerio)
    Actinopterygii alx4a1 aristaless-like homeobox 4a 70.42(n)
    70.88(a)
      100006399  XM_001340930.2  XP_001340966.1 


    ENSEMBL Gene Tree for ALX4 (if available)
    TreeFam Gene Tree for ALX4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALX4 gene
    ALX12  PHOX2B2  ARX2  RAX2  DRGX2  PRRX12  SHOX22  PHOX2A2  
    ISX2  RAX22  ALX32  SHOX2  OTP2  PRRX22  
    6 SIMAP similar genes for ALX4 using alignment to 1 protein entry:     ALX4_HUMAN:
    ALX1    RAX2    PRRX1    DUX2    ALX3    DRGX

    ALX4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1267 SNPs in ALX4 are shown (see all 1267)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0107854
    Parietal foramina 2 (PFM2)4--see VAR_0107852 R Q mis40--------
    VAR_0108974
    Parietal foramina 2 (PFM2)4--see VAR_0108972 R P mis40--------
    rs1048941961,2
    Cpathogenic144217364(-) GAAGCC/GGGAGC 2 P R mis10--------
    rs1048941921,2
    Cpathogenic144225168(-) GGGAAC/TAGCTG 2 Q * stg10--------
    rs1048941931,2
    Cpathogenic144225251(-) GAACCA/GGACCA 2 Q R mis10--------
    rs1048941971,2
    Cpathogenic144225284(-) CGACTA/CAGAGA 2 * S stg10--------
    rs1048941911,2
    Cpathogenic144259468(-) AACTCC/TAGGAA 2 Q * stg10--------
    rs47557981,2
    C,F,Auntested144214405(+) TGGCCG/AGGAGC 1 -- ut31 ese311Minor allele frequency- A:0.18NA WA CSA EA 510
    rs38028051,2
    C,F,A,Huntested144214795(-) AGTCAC/TGTGGG 2 H syn1 ese329Minor allele frequency- T:0.30NA NS EA WA EU 8137
    rs1498972091,2
    C,Funtested144214952(+) AGGACG/AGGTTC 2 /P /L mis11Minor allele frequency- A:0.00NA 3820

    HapMap Linkage Disequilibrium report for ALX4 (44281994 - 44331716 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ALX4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv897305CNV Loss21882294
    nsv897303CNV Loss21882294
    dgv67n21CNV Loss19592680
    nsv897304CNV Loss21882294
    nsv832139CNV Loss17160897
    nsv897306CNV Gain21882294


    Human Gene Mutation Database (HGMD): ALX4
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605420   
    OMIM disorders: 609597  613451  
    UniProtKB/Swiss-Prot: ALX4_HUMAN, Q9H161
  • Parietal foramina 2 (PFM2) [MIM:609597]: Autosomal dominant disease characterized by oval defects of the
    parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during
    the fifth fetal month. PFM2 is also a clinical feature of Potocki-Shaffer syndrome. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Frontonasal dysplasia 2 (FND2) [MIM:613451]: The term frontonasal dysplasia describes an array of
    abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is
    highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial
    cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of
    formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Potocki-Shaffer syndrome (POSHS) [MIM:601224]: A syndrome characterized by foramina parietalia permagna,
    multiple exostoses, and craniofacial dysostosis and mental retardation in some cases. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Note=Defects in ALX4 may play a role in non-syndromic craniosynostosis (NSC), a disease characterized by
    premature closure of one or more cranial sutures of the infant skull

  • 20/24 diseases for ALX4 (see all 24):    About MalaCards
    potocki-shaffer syndrome    parietal foramina 2    frontonasal dysplasia 2    enlarged parietal foramina
    basal encephalocele    autosomal dominant disease    parietal foramina 1    frontonasal dysplasia
    wagr syndrome    alopecia    omphalocele    hypogonadism
    encephalocele    encephaloceles    synostosis    dysostosis
    syndactyly    polydactyly    intellectual disability    mental retardation

    2 diseases from the University of Copenhagen DISEASES database for ALX4:
    Polydactyly     Synostosis

    ALX4 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for ALX4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parietal foramina 97.8 1 15569759 (1)
    potocki-shaffer syndrome 94.8 1 11903336 (1)

    GeneTests: ALX4
    GeneReviews: ALX4
    Genetic Association Database (GAD): ALX4
    Human Genome Epidemiology (HuGE) Navigator: ALX4 (6 documents)

    Export disorders for ALX4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ALX4 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with ALX4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. (PubMed id 11017806)1, 2, 3, 9 Wu Y.-Q....Shaffer L.G. (2000)
    2. ALX4 dysfunction disrupts craniofacial and epidermal development. (PubMed id 19692347)1, 2, 9 Kayserili H....Akarsu N.A. (2009)
    3. The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). (PubMed id 11106354)1, 2, 9 Wuyts W....Van Hul W. (2000)
    4. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. (PubMed id 22829454)1, 2 Yagnik G.... Boyadjiev S.A. (2012)
    5. Impact of single nucleotide polymorphisms and of clin ical risk factors on newa89onset diabetes mellitus in HIVa89infected individuals. (PubMed id 20879858)1, 4 Rotger M....Tarr P.E. (2010)
    6. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    7. Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. (PubMed id 19336475)1, 4 Drenos F....Hingorani A.D. (2009)
    8. A genome-wide association study identifies novel risk loci for type 2 diabetes. (PubMed id 17293876)1, 4 Sladek R....Froguel P. (2007)
    9. High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. (PubMed id 16415175)1, 4 Park J.W....Beaty T.H. (2006)
    10. 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. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 60529 HGNC: 450 AceView: ALX4 Ensembl:ENSG00000052850 euGenes: HUgn60529
    ECgene: ALX4 H-InvDB: ALX4

    (According to HUGE)
    About This Section
    HUGE: KIAA1788

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ALX4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALX4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ALX4 gene:
    Search GeneIP for patents involving ALX4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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