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This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]
ALX3 (ALX Homeobox 3) is a Protein Coding gene. Diseases associated with ALX3 include Frontonasal Dysplasia 1 and Cerebral Hemisphere Lipoma. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is ALX4.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J110070 | Promoter | 0.8 | EPDnew Ensembl | 600.7 | 0.0 | -29 | 0.2 | EZH2 USF1 | ALX3 LINC01397 STRIP1 UBL4B | |
GH01J110068 | Enhancer | 0.7 | Ensembl ENCODE | 600.7 | +1.8 | 1840 | 3.1 | KDM1A POLR2A EZH2 DEK BMI1 SPI1 CBX8 | ALX3 STRIP1 ENSG00000258634 piR-42967 | |
GH01J110033 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 0.3 | +35.7 | 35718 | 2.9 | BRCA1 ARHGAP35 CEBPG SP1 CREB1 PRDM10 SIX5 LEF1 ZNF692 POLR2A | STRIP1 LOC105378895 MN308970 ALX3 | |
GH01J110054 | Enhancer | 0.9 | Ensembl ENCODE | 0.4 | +13.3 | 13341 | 5 | IKZF1 CTCF HDAC1 SOX6 NRF1 UBTF HMBOX1 EGR1 ZNF10 CEBPB | ENSG00000258634 piR-46124 piR-49533 piR-47905 piR-44579 STRIP1 ALX3 MN308970 | |
GH01J110083 | Enhancer | 0.8 | FANTOM5 ENCODE | 0.4 | -13.8 | -13836 | 1.8 | RNF2 ZNF512 BACH1 PRDM1 POLR2A IRF2 EZH2 EED BCLAF1 MBD1 | lnc-STRIP1-2 STRIP1 LINC01397 ALX3 UBL4B |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003677 | DNA binding | IEA | -- |
GO:0043565 | sequence-specific DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007389 | pattern specification process | IEA | -- |
GO:0035115 | embryonic forelimb morphogenesis | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ALX3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ALX3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Alx3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Alx3 30 |
|
||
Dog (Canis familiaris) |
Mammalia | ALX3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ALX3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ALX3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ALX3 30 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | LOC566955 30 |
|
||
BX324132.5 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
4642 | Pathogenic: Frontonasal dysplasia 1 | 110,061,565(-) | T/A | SPLICE_ACCEPTOR_VARIANT | |
711287 | Benign: not provided | 110,060,850(-) | G/A | SYNONYMOUS_VARIANT | |
729295 | Benign: not provided | 110,070,409(-) | G/A | SYNONYMOUS_VARIANT | |
738448 | Likely Benign: not provided | 110,060,889(-) | C/T | SYNONYMOUS_VARIANT | |
741075 | Likely Benign: not provided | 110,064,701(-) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
frontonasal dysplasia 1 |
|
|
cerebral hemisphere lipoma |
|
|
corpus callosum lipoma |
|
|
central nervous system lipoma |
|
|
maxillonasal dysplasia, binder type |
|
|