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

ALX4 Gene

protein-coding   GIFtS: 55
GCID: GC11M044238

ALX homeobox 4

(Previous names: parietal foramina 2, aristaless-like homeobox 4 )
(Previous symbol: PFM2)
 Explore 21 diseases affiliated with
ALX4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ALX4    

Aliases
for ALX4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ALX Homeobox 41 2     FND22 5
Aristaless-Like Homeobox 41 2     PFM1
KIAA17881 3     Parietal Foramina 21
FPP1 5     Homeobox Protein Aristaless-Like 42
PFM21 5     Homeodomain Transcription Factor ALX42

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


Summaries
for ALX4 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
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 plasmid: ALX4 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

Proteins
for ALX4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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;
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H161

    • ALX4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_068745.2  
    ENSEMBL proteins: 
     ENSP00000332744  

    Human Recombinant Protein Products: 
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    Uscn 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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    Uscn ELISAs and CLIAs for ALX4

    Protein Domains /
    Families
    for ALX4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ALX4 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: 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


    Function
    for ALX4 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALX4
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    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 plasmid: ALX4 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALX4 (see all 7)
    OriGene shRNA RFP: ALX4
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for ALX4

    In Situ Assay
    Products:       
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    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


    1 GenomeRNAi human phenotype for ALX4:
     Increased S DNA content 

    Animal Models:
         Mouse knock-out Alx4tm1Rwi for ALX4
         12 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Alx4):
     behavior/neurological  craniofacial  digestive/alimentary  growth/size  integument 
     limbs/digits/tail  mortality/aging  nervous system  normal  respiratory system 
     skeleton  vision/eye 

    ALX4 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ALX4 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development NAS11106354
    GO:0001942hair follicle development IMP19692347
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0007389pattern specification process ----


    ALX4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ALX4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for ALX4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
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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 plasmid: ALX4 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALX4 (see all 7)
    OriGene shRNA RFP: ALX4
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALX4
    Clone
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    Primer
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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 cDNA sequence: 

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

    2 DOTS entries:

    DT.91966405  DT.100742378 

    11 AceView cDNA sequences:

    BX279585 CA396504 AW071529 AJ404888 NM_021926 AK092346 AB058691 AF294629 
    AW241355 BV175889 AW613995 

    GeneLoc Exon Structure


    Expression
    for ALX4 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGCAAAATG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ALX4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleExtraocular MusclesMuscle satellite CellsSkeletal Muscle
    BrainAnterior MeningesMeningeal CellsMeninges
    Head MesenchymeBranchial Arch 1Paraxial Mesoderm CellsBone, Skeletal Muscle
    EyeOuter Nuclear LayerEye
    Skeletal MuscleExtraocular MusclesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
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    Orthologs
    for ALX4 gene

    (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 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 88(a)
    		 1 ↔ 1
    		 1(45706678-45735846)
    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
    for ALX4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALX4 gene
    ALX12  PHOX2B2  RAX2  VSX12  DRGX2  PITX22  PRRX22  PITX12  
    ARX2  PRRX12  PHOX2A2  ISX2  VSX22  PITX32  RAX22  ALX32  
    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



    Genomic Variants
    for ALX4 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1069 NCBI SNPs in ALX4 are shown (see all 1069)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048941911,2
    		Cpathogenic57191909(-) AACTCC/TAGGAA 2 Q * stg10--------
    rs1048941971,2
    		Cpathogenic57226054(-) CGACTA/CAGAGA 2 * S stg10--------
    rs1048941931,2
    		Cpathogenic57226087(-) GAACCA/GGACCA 2 Q R mis10--------
    rs1048941921,2
    		Cpathogenic57226170(-) GGGAAC/TAGCTG 2 Q * stg10--------
    rs1048941961,2
    		Cpathogenic57233972(-) GAAGCC/GGGAGC 2 P R mis10--------
    rs110379191,2
    		H,--43991783(+) GTCTAG/CCCCAG 1 -- ut315Minor allele frequency- C:0.00NS EA WA 520
    rs1137341331,2
    		--43991980(+) GTGCTG/TCCCGA 1 -- ut311Minor allele frequency- T:0.50CSA 2
    rs770151411,2
    		F,--43992551(+) CTGGAG/AAACTG 1 -- ut311Minor allele frequency- A:0.02WA 118
    rs753695251,2
    		F,--43992872(+) GGGTAC/TGTGGC 1 -- ut311Minor allele frequency- T:0.06EA 120
    rs786070241,2
    		C,--43993153(+) CTCCTC/TTTTGT 1 -- ut312Minor allele frequency- T:0.05NA 122

    HapMap Linkage Disequilibrium report for ALX4 (44281994 - 44331716 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ALX4
         1 CNV: 48803
    Human Gene Mutation Database (HGMD): ALX4

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALX4
    DNA2.0 Custom Variant and Variant Library Synthesis for ALX4

    Disorders / Diseases
    for ALX4 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ALX4 for disorders           About GeneDecksing

    OMIM gene information: 605420   
    OMIM disorders: 609597  613451  
    UniProtKB/Swiss-Prot: ALX4_HUMAN, Q9H161
  • Defects in ALX4 are the cause of parietal foramina 2 (PFM2) [MIM:609597]; also known as foramina parietalia
    • permagna (FPP). PFM2 is an 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
  • Defects in ALX4 are the cause of frontonasal dysplasia type 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
  • Defects in ALX4 are a cause of Potocki-Shaffer syndrome (POSHS) [MIM:601224]. A contiguous gene syndrome
    • caused by deletion of the 11p11.2 region

    20/21 diseases for ALX4 (see all 21):    About MalaCards
    parietal foramina    parietal foramina 2    potocki-shaffer syndrome    frontonasal dysplasia
    enlarged parietal foramina    autosomal dominant disease    exostoses    frontonasal dysplasia 2
    craniofacial anomalies    alopecia    wagr syndrome    hypogonadism
    intellectual disability    coronary heart disease    dysostosis    synostosis
    syndactyly    polydactyly    diabetes mellitus    breast cancer

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

    2 Novoseek 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
    Enlarged Parietal Foramina/Cranium Bifidum

    Human Genome Epidemiology (HuGE) Navigator: ALX4 (6 documents)

    Export disorders for ALX4 gene to outside databases

    Publications
    for ALX4 gene

    (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 32):
    (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. 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)
    5. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. (PubMed id 11137991)1, 2 Mavrogiannis L.A....Wilkie A.O.M. (2001)
    6. 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. (PubMed id 8644736)1, 3 Bartsch O....Willems P.J. (1996)
    7. Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. (PubMed id 16319823)1, 9 Mavrogiannis L.A....Wilkie A.O. (2006)
    8. Exclusion of mutations in TGIF, ALX3, and ALX4 genes i n patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies. (PubMed id 22496059)1 Ribeiro-Bicudo L.A....Richieri-Costa A. (2012)
    9. Impact of single nucleotide polymorphisms and of clin ical risk factors on newa89onset diabetes mellitus in HIVa89infected individuals. (PubMed id 20879858)1 Rotger M....Tarr P.E. (2010)
    10. HoxB2, HoxB4 and Alx4 genes are downregulated in the cadmium-induced omphalocele in the chick model. (PubMed id 20625746)1 Doi T....Thompson J. (2010)

    External Searches for ALX4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing ALX4 gene

    (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

    Other Databases showing ALX4 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1788

    Specialized Databases showing ALX4 gene

    (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

    Intellectual Property
    for ALX4 gene

    (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:
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