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    ALX4 ALX homeobox 4 [ Homo sapiens (human) ]

    Gene ID: 60529, updated on 7-Feb-2016
    Official Symbol
    ALX4provided by HGNC
    Official Full Name
    ALX homeobox 4provided by HGNC
    Primary source
    HGNC:HGNC:450
    See related
    Ensembl:ENSG00000052850; HPRD:05661; MIM:605420; Vega:OTTHUMG00000166557
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRS5; FND2
    Summary
    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]
    Orthologs
    See ALX4 in Epigenomics, MapViewer
    Location:
    11p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (44260438..44319220, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (44282278..44331735, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) Neighboring gene exostosin glycosyltransferase 2 Neighboring gene uncharacterized LOC105376645 Neighboring gene uncharacterized LOC105376646

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Craniosynostosis 5, susceptibility to
    MedGen: C3809819 OMIM: 615529 GeneReviews: Not available
    Compare labs
    Frontonasal dysplasia 2
    MedGen: C3150703 OMIM: 613451 GeneReviews: Not available
    Compare labs
    Parietal foramina 2
    MedGen: C1865044 OMIM: 609597 GeneReviews: Enlarged Parietal Foramina
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2011-11-17)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2011-11-17)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1788

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    HMG box domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    hair follicle development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    palate development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    homeobox protein aristaless-like 4
    Names
    aristaless-like homeobox 4
    homeodomain transcription factor ALX4

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015809.1 RefSeqGene

      Range
      5001..54439
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021926.3NP_068745.2  homeobox protein aristaless-like 4

      See identical proteins and their annotated locations for NP_068745.2

      Status: REVIEWED

      Source sequence(s)
      AB058691, AC103854, AF294629
      Consensus CDS
      CCDS31468.1
      UniProtKB/Swiss-Prot
      Q9H161
      Related
      ENSP00000332744, OTTHUMP00000233417, ENST00000329255, OTTHUMT00000390399
      Conserved Domains (2) summary
      cd00086
      Location:215273
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03826
      Location:387406
      OAR; OAR domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      44260438..44319220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520265.1XP_011518567.1  

      See identical proteins and their annotated locations for XP_011518567.1

      Conserved Domains (2) summary
      cd00086
      Location:4199
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03826
      Location:213232
      OAR; OAR domain
    2. XM_011520266.1XP_011518568.1  

      See identical proteins and their annotated locations for XP_011518568.1

      Conserved Domains (2) summary
      cd00086
      Location:4199
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03826
      Location:213232
      OAR; OAR domain
    3. XM_011520264.1XP_011518566.1  

      Conserved Domains (1) summary
      cd00086
      Location:215259
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      44281300..44330733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)