ALX3 (ALX homeobox 3)

2014-08-01  

Identity

HGNC
LOCATION
1p13.3
LOCUSID
ALIAS
FND,FND1
FUSION GENES

Other Information

Locus ID:

NCBI: 257
MIM: 606014
HGNC: 449
Ensembl: ENSG00000156150

Variants:

dbSNP: 257
ClinVar: 257
TCGA: ENSG00000156150
COSMIC: ALX3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156150ENST00000647563O95076
ENSG00000156150ENST00000649954A0A3B3IS30

Expression (GTEx)

0
1
2

References

Pubmed IDYearTitleCitations
194095242009Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.30
118079862002Combined restriction landmark genomic scanning and virtual genome scans identify a novel human homeobox gene, ALX3, that is hypermethylated in neuroblastoma.18
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
152263052004The homeoprotein Alx3 contains discrete functional domains and exhibits cell-specific and selective monomeric binding and transactivation.6
168252922006The homeoprotein Alx3 expressed in pancreatic beta-cells regulates insulin gene transcription by interacting with the basic helix-loop-helix protein E47.4
168252922006The homeoprotein Alx3 expressed in pancreatic beta-cells regulates insulin gene transcription by interacting with the basic helix-loop-helix protein E47.4
221061872011Clinical and genetic characterization of frontorhiny: report of 3 novel cases and discussion of the surgical management.2
224960592012Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies.0
292150962018Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.0

Citation

Dessen P

ALX3 (ALX homeobox 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54120/alx3