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ALX4 ALX homeobox 4 [ Homo sapiens (human) ]

Gene ID: 60529, updated on 8-Apr-2014
Official Symbol
ALX4provided by HGNC
Official Full Name
ALX homeobox 4provided by HGNC
Primary source
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]
Location :
11p11.2
Sequence :
Chromosome: 11; NC_000011.10 (44260728..44310185, complement)
See ALX4 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) Neighboring gene exostosin glycosyltransferase 2 Neighboring gene 60S ribosomal protein L7a-like Neighboring gene CD82 molecule

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Craniosynostosis 5, susceptibility to
MedGen: CN181759 OMIM: 615529 GeneReviews: Not available
not available
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)

ISCA Genome Curation Page
Haploinsufficency

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

ISCA Genome Curation PagePubMed
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity 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, DNA-templated 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
homeobox protein aristaless-like 4
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 proteins identical to 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
    Blast Score: 255
    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
    Blast Score: 111
    OAR; OAR domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10

    Range
    44260728..44310185, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_242817.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000143.1 Alternate HuRef

    Range
    43991253..44040694, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

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

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