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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
ALX4 60529 ALX homeobox 4  11FPP, PFM, KIAA1788 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
20140221   2010Cell line : -

Source : -

Sample Type : Blood plasma

No. of Sample : 128 individuals (cohort I - exploratory study: 73 cases / 55 controls), 76 individuals (cohort II - validation study: 54 cases / 22 controls)

Stage : -

HeavyMethyl technique, Real Time RT-PCRMethylation-Methylated DNA from advanced precancerous colorectal lesions can be detected using a panel of two DNA methylation markers, ALX4 and SEPT9.

The presence of both SEPT9 and ALX4 markers was analysed in cohort II and was observed in 5% of controls (1/22) and 37% of patients with polyps (18/49). Interestingly, also 3/5 (60%) patients with colorectal cancer were tested positive by the two marker panel in plasma.


Gene Details



Chromosome 11 - NC_000011.10(44260438..44319220, complement)

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Gene Type protein coding
Gene Family Homeoboxes / PRD class
Description 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.  
Chromosome 11
Location 11p11.2
Start 44260438  
End 44319220  
Strand -  
Gene Sequence

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Length 58783  
OMIM ID 605420   
HGNC ID HGNC:450   
Unigene ID Hs.436055   
Ensembl ID ENSG00000052850   
PharmGKB ID -   

mRNA Information


mRNA ID XM_011520265.1
Exon join(1..2330,9534..9624,43563..43873,51599..51727, 54038..58783)  
mRNA Sequence

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Length 5466  



CDS Information


   
Location join(9159..9624,43563..43873,51599..51727,54038..54367)
CDS Sequence

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CCDS ID CCDS31468.1



Protein Information


      
Protein IDNP_068745.2
Protein NameALX homeobox 4
Molecular Wt. (Da)44110
Protein Sequence

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Length 411  
Uniprot IDP17931
Ensembl Protein ID ENSP00000254301  



Post-translational Modification Information (Source : HPRD)


No matching records could be found.

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                              
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
8092ALX13316NP_008913.2in vitro9847249   
51176LEF11075NP_057353.1in vitro11696550   


Pathway Information


No matching records could be found.

Structure Information


PDB ID2M0C
Resolution
MethodSOLUTION NMR
Chains A  
Molecule Homeobox protein aristaless-like 4  
Model View



Domain Information




ID Location Description
cd00086215-273  homeodomain
cl00084215-273  homeodomain superfamily
pfam00046215-271  Homeobox
smart00389214-270  HOX
pfam03826387-406  OAR
cl08404387-406  OAR superfamily
COG5576202-299  COG5576


Ontology Information


   
HPRD ID2796
Molecular ClassTranscription factor
Molecular FunctionExtracellular matrix structural constituent (GO:0005201)
Biological ProcessImmune response (GO:0006955)  



SNP Information


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Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO