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Aliases for ALX4 Gene

Aliases for ALX4 Gene

  • ALX Homeobox 4 2 3 5
  • Aristaless-Like Homeobox 4 2 3
  • Homeodomain Transcription Factor ALX4 3
  • Parietal Foramina 2 2
  • KIAA1788 4
  • CRS5 3
  • FND2 3

External Ids for ALX4 Gene

Previous HGNC Symbols for ALX4 Gene

  • PFM2

Previous GeneCards Identifiers for ALX4 Gene

  • GC11P045601
  • GC11M044967
  • GC11M044321
  • GC11M044246
  • GC11M043991

Summaries for ALX4 Gene

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 transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is PRRX2.

UniProtKB/Swiss-Prot for ALX4 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALX4 Gene

Genomics for ALX4 Gene

Regulatory Elements for ALX4 Gene

Enhancers for ALX4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ALX4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALX4 Gene

Chromosome:
11
Start:
44,260,438 bp from pter
End:
44,319,220 bp from pter
Size:
58,783 bases
Orientation:
Minus strand

Genomic View for ALX4 Gene

Genes around ALX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALX4 Gene

Proteins for ALX4 Gene

  • Protein details for ALX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H161-ALX4_HUMAN
    Recommended name:
    Homeobox protein aristaless-like 4
    Protein Accession:
    Q9H161
    Secondary Accessions:
    • Q96JN7
    • Q9H198
    • Q9HAY9

    Protein attributes for ALX4 Gene

    Size:
    411 amino acids
    Molecular mass:
    44241 Da
    Quaternary structure:
    • Binds DNA.
    SequenceCaution:
    • Sequence=AAG23961.1; Type=Frameshift; Positions=314, 323, 340; Evidence={ECO:0000305}; Sequence=BAB47417.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALX4 Gene

neXtProt entry for ALX4 Gene

Proteomics data for ALX4 Gene at MOPED

Post-translational modifications for ALX4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALX4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ALX4 Gene

Domains & Families for ALX4 Gene

Gene Families for ALX4 Gene

Protein Domains for ALX4 Gene

Suggested Antigen Peptide Sequences for ALX4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H161

UniProtKB/Swiss-Prot:

ALX4_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with ALX4: view

Function for ALX4 Gene

Molecular function for ALX4 Gene

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

Gene Ontology (GO) - Molecular Function for ALX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ALX4: view
genes like me logo Genes that share phenotypes with ALX4: view

Human Phenotype Ontology for ALX4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALX4 Gene

MGI Knock Outs for ALX4:

Animal Model Products

miRNA for ALX4 Gene

miRTarBase miRNAs that target ALX4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ALX4 Gene

Localization for ALX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALX4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALX4 Gene COMPARTMENTS Subcellular localization image for ALX4 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for ALX4 Gene

Pathways & Interactions for ALX4 Gene

SuperPathways for ALX4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ALX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IMP 19692347
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007389 pattern specification process IEA --
GO:0007517 muscle organ development IEA --
genes like me logo Genes that share ontologies with ALX4: view

No data available for Pathways by source and SIGNOR curated interactions for ALX4 Gene

Drugs & Compounds for ALX4 Gene

No Compound Related Data Available

Transcripts for ALX4 Gene

mRNA/cDNA for ALX4 Gene

(4) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALX4 Gene

ALX homeobox 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALX4 Gene

No ASD Table

Relevant External Links for ALX4 Gene

GeneLoc Exon Structure for
ALX4
ECgene alternative splicing isoforms for
ALX4

Expression for ALX4 Gene

mRNA expression in normal human tissues for ALX4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALX4 Gene

This gene is overexpressed in Breast - Mammary Tissue (x10.9), Skin - Not Sun Exposed (Suprapubic) (x6.5), and Skin - Sun Exposed (Lower leg) (x4.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALX4 Gene



SOURCE GeneReport for Unigene cluster for ALX4 Gene Hs.436055

mRNA Expression by UniProt/SwissProt for ALX4 Gene

Q9H161-ALX4_HUMAN
Tissue specificity: Expression is likely to be restricted to bone. Found in parietal bone.
genes like me logo Genes that share expression patterns with ALX4: view

Primer Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for ALX4 Gene

Orthologs for ALX4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALX4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ALX4 35
  • 91.1 (n)
  • 93.7 (a)
ALX4 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALX4 35
  • 90.35 (n)
  • 91.73 (a)
ALX4 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alx4 35
  • 88.39 (n)
  • 92.48 (a)
Alx4 16
Alx4 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALX4 35
  • 94.12 (n)
  • 92.23 (a)
ALX4 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alx4 35
  • 88.47 (n)
  • 91.98 (a)
oppossum
(Monodelphis domestica)
Mammalia ALX4 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALX4 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALX4 35
  • 79.37 (n)
  • 78.57 (a)
ALX-4 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALX4 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alx4 35
  • 72.1 (n)
  • 71.93 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16593 35
zebrafish
(Danio rerio)
Actinopterygii alx4a 35
  • 70.33 (n)
  • 70.88 (a)
alx4a 36
  • 69 (a)
OneToMany
alx4b 36
  • 63 (a)
OneToMany
Species with no ortholog for ALX4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALX4 Gene

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

Paralogs for ALX4 Gene

Paralogs for ALX4 Gene

(6) SIMAP similar genes for ALX4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ALX4: view

Variants for ALX4 Gene

Sequence variations from dbSNP and Humsavar for ALX4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs3824915 -, - 44,309,959(-) TTTTA(C/G)GGCAT intron-variant, reference, missense
rs12421995 - 44,309,759(+) CGGCG(A/G)CGGCT intron-variant, reference, missense
VAR_010785 Parietal foramina 2 (PFM2)
VAR_010897 Parietal foramina 2 (PFM2)
VAR_069279 Craniosynostosis 5 (CRS5)

Structural Variations from Database of Genomic Variants (DGV) for ALX4 Gene

Variant ID Type Subtype PubMed ID
nsv832139 CNV Loss 17160897
dgv67n21 CNV Loss 19592680
nsv897303 CNV Loss 21882294
nsv897304 CNV Loss 21882294
nsv897305 CNV Loss 21882294
nsv897306 CNV Gain 21882294

Variation tolerance for ALX4 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.33; 98.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALX4 Gene

Human Gene Mutation Database (HGMD)
ALX4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALX4 Gene

Disorders for ALX4 Gene

MalaCards: The human disease database

(15) MalaCards diseases for ALX4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
parietal foramina 2
  • alx4-related parietal foramina
frontonasal dysplasia 2
  • fnd2
craniosynostosis 5
  • crs5
frontonasal dysplasia with alopecia and genital anomaly
  • alx4-related fndag
potocki-shaffer syndrome
  • pss
- elite association - COSMIC cancer census association via MalaCards
Search ALX4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALX4_HUMAN
  • Craniosynostosis 5 (CRS5) [MIM:615529]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269 PubMed:22829454}. Note=Disease susceptibility is associated with variations 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 widows peak frontal hairline. {ECO:0000269 PubMed:19692347}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:11106354, ECO:0000269 PubMed:11137991}. 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. {ECO:0000305 PubMed:11017806, ECO:0000305 PubMed:11903336}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALX4

Genetic Association Database (GAD)
ALX4
Human Genome Epidemiology (HuGE) Navigator
ALX4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALX4
genes like me logo Genes that share disorders with ALX4: view

No data available for Genatlas for ALX4 Gene

Publications for ALX4 Gene

  1. Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. (PMID: 11017806) Wu Y.-Q. … Shaffer L.G. (Am. J. Hum. Genet. 2000) 2 3 4 23 67
  2. ALX4 dysfunction disrupts craniofacial and epidermal development. (PMID: 19692347) Kayserili H. … Akarsu N.A. (Hum. Mol. Genet. 2009) 3 23
  3. Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. (PMID: 16319823) Mavrogiannis L.A. … Wilkie A.O. (Eur. J. Hum. Genet. 2006) 3 23
  4. The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). (PMID: 11106354) Wuyts W. … Van Hul W. (J. Med. Genet. 2000) 3 23
  5. 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. (PMID: 8644736) Bartsch O. … Willems P.J. (Am. J. Hum. Genet. 1996) 2 3

Products for ALX4 Gene

Sources for ALX4 Gene

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