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ALX4 Gene

protein-coding   GIFtS: 56
GCID: GC11M044238

ALX Homeobox 4

(Previous names: parietal foramina 2, aristaless-like homeobox 4)
(Previous symbol: PFM2)
Pneumococci & Pneumococcal Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ALX Homeobox 41 2     Parietal Foramina 21
Aristaless-Like Homeobox 41 2     Homeobox Protein Aristaless-Like 42
PFM21 5     Homeodomain Transcription Factor ALX42
CRS52 5     KIAA17883
FND22 5     FPP5

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 parietal foramina 2, and frontonasal dysplasia 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for ALX4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ALX4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_068745.2  
    ENSEMBL proteins: 
     ENSP00000332744  

    ALX4 Human Recombinant Protein Products:

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

    4 InterPro protein domains:
     IPR003654 OAR_dom
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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 

         14 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Alx4):
     behavior/neurological  craniofacial  digestive/alimentary  embryogenesis  growth/size/body 
     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: Let us create your new Knockout/Knockin mouse model for ALX4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALX4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALX4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALX4

    miRNA
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    Block miRNA regulation of human, mouse, rat ALX4 using miScript Target Protectors
    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat ALX4

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ALX4 (NM_021926)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALX4

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALX4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ALX4_HUMAN, Q9H161: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    ALX4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including ALX4: 
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ALX4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALX4 (Q9H1613 ENSP000003327444) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HOXB13Q928263, ENSP000002902954I2D: score=2 STRING: ENSP00000290295
    CDX1P479023, ENSP000002316564I2D: score=1 STRING: ENSP00000231656
    CDX4O146273, ENSP000003626134I2D: score=1 STRING: ENSP00000362613
    DLX5P561783, ENSP000002225984I2D: score=1 STRING: ENSP00000222598
    ENSG00000273266P090173I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development NAS11106354
    GO:0001942hair follicle development IMP19692347
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    Block miRNA regulation of human, mouse, rat ALX4 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for ALX4
    Predesigned siRNA for gene silencing in human, mouse, rat ALX4
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ALX4 (NM_021926)
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    Primer
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    OriGene qPCR primer pairs and template standards for ALX4
    OriGene qSTAR qPCR primer pairs in human, mouse for ALX4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALX4
      QuantiTect SYBR Green Assays in human, mouse, rat ALX4
      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:

    CA396504 BX279585 AF294629 AW071529 AB058691 NM_021926 AK092346 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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
     selected tissues (see all 8) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Muscle satellite Cells Extraocular Muscles
             Extraocular Muscles
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Progress Zone Cells Limb Bud
             Limb Bud
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Progress Zone Cells Limb Bud
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    ALX4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALX4 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including ALX4: 
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ALX4 gene from Selected 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 88.39(n)1
    92.48(a)1
      2 (51.62 cM)5
    116951  NM_007442.31  NP_031468.11 
     936423845 
    chicken
    (Gallus gallus)
    Aves ALX41 ALX homeobox 4 79.37(n)
    78.57(a)
      373976  NM_204162.1  NP_989493.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALX46
    ALX homeobox 4
    84(a)
    1 ↔ 1
    1(45706675-45759496)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.165932 Xenopus laevis transcribed sequence with moderate similarity to protein spQ9H161 (H.sapiens) ALX4_HUMAN Homeobox protein aristaless-like 4 less 85.42(n)    BJ061412.1 
    zebrafish
    (Danio rerio)
    Actinopterygii alx4a1 aristaless-like homeobox 4a 70.33(n)
    70.88(a)
      100006399  XM_001340930.3  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)
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    Paralogs for ALX4 gene
    ALX12  PHOX2B2  ARX2  RAX2  DRGX2  SHOX22  PRRX12  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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ALX4 (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
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ALX4
    DNA2.0 Custom Variant and Variant Library Synthesis for ALX4

    (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.)
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    OMIM gene information: 605420   
    OMIM disorders: 609597  613451  615529  
    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

  • Selected diseases for ALX4 (see all 31):    About MalaCards
    parietal foramina 2    frontonasal dysplasia 2    craniosynostosis 5    frontonasal dysplasia
    potocki-shaffer syndrome    parietal foramina 1    enlarged parietal foramina    basal encephalocele
    autosomal dominant disease    encephalocele    encephaloceles    alopecia
    craniosynostosis, type 1    wagr syndrome    hypogonadism    omphalocele
    synostosis    dysostosis    syndactyly    polydactyly

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

    ALX4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    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)
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    PubMed articles for ALX4 gene, integrated from 10 sources (see all 35):
    (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. (Am. J. Hum. Genet. 2000)
    2. ALX4 dysfunction disrupts craniofacial and epidermal development. (PubMed id 19692347)1, 2, 9 Kayserili H.... Akarsu N.A. (Hum. Mol. Genet. 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. (J. Med. Genet. 2000)
    4. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. (PubMed id 22829454)1, 2 Yagnik G.... Boyadjiev S.A. (Hum. Mutat. 2012)
    5. Impact of single nucleotide polymorphisms and of clinical risk factors on newa89onset diabetes mellitus in HIVa89infected individuals. (PubMed id 20879858)1, 4 Rotger M....Tarr P.E. (Clin. Infect. Dis. 2010)
    6. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 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. (Hum. Mol. Genet. 2009)
    8. A genome-wide association study identifies novel risk loci for type 2 diabetes. (PubMed id 17293876)1, 4 Sladek R....Froguel P. (Nature 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. (J. Med. Genet. 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. (DNA Res. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 60529 HGNC: 450 AceView: ALX4 Ensembl:ENSG00000052850 euGenes: HUgn60529
    ECgene: ALX4 H-InvDB: ALX4

    (According to HUGE)
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    HUGE: KIAA1788

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ALX4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALX4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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