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HLX (H2.0 Like Homeobox) is a Protein Coding gene. Diseases associated with HLX include Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome and Ovarian Endodermal Sinus Tumor. Among its related pathways are IL12-mediated signaling events. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is DBX1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 23455154 |
GO:0043565 | sequence-specific DNA binding | IDA | 9073066 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | IL12-mediated signaling events |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001889 | liver development | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0007275 | multicellular organism development | TAS | 8094082 |
GO:0007519 | skeletal muscle tissue development | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HLX 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HLX 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HLX 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hlx 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hlx 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HLX 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HLX 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HLX 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HLX 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hlx 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hlx1 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2656 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | H2.0 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs140376930 | Benign: not provided | 220,881,305(+) |
C/T NM_021958.4(HLX):c.704C>T (p.Ala235Val) |
MISSENSE | |
rs149152615 | Benign: not provided | 220,884,186(+) |
G/A NM_021958.4(HLX):c.958-9G>A |
INTRON | |
rs11578466 | - |
p.Ala387Gly |
|||
rs12141189 | - |
p.Ser116Pro |
|||
rs2738755 | - |
p.Pro356Leu |
Disorder | Aliases | PubMed IDs |
---|---|---|
diaphragmatic hernia-short bowel-asplenia syndrome |
|
|
ovarian endodermal sinus tumor |
|
|
ovarian primitive germ cell tumor |
|
|
patent foramen ovale |
|
|
diaphragmatic hernia, congenital |
|
|