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This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]
HMX1 (H6 Family Homeobox 1) is a Protein Coding gene. Diseases associated with HMX1 include Oculoauricular Syndrome and Anterior Segment Dysgenesis. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HMX3.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH04J008871 | Promoter | 1.2 | EPDnew Ensembl | 600.7 | -0.1 | -62 | 0.6 | PRDM10 ZIC2 ZSCAN4 PATZ1 EZH2 ZNF341 SP2 TARDBP ZNF580 ZBTB26 | HMX1 piR-54034 FAM90A26 | |
GH04J008899 | Enhancer | 0.3 | ENCODE | 13 | -26.7 | -26670 | 0.8 | ZIC2 ZNF341 | HMX1 piR-52408 piR-32214-509 FAM90A26 | |
GH04J008898 | Enhancer | 0.2 | ENCODE | 13 | -27.2 | -27226 | 0.1 | HMX1 piR-52408 piR-32214-509 FAM90A26 | ||
GH04J008858 | Enhancer | 0.5 | Ensembl | 0.4 | +13.9 | 13884 | 0.7 | KDM1A EZH2 ZNF316 MAFK HDAC2 | ENSG00000258507 LOC105374474 HMX1 CPZ | |
GH04J008857 | Enhancer | 0.4 | Ensembl | 0.4 | +14.7 | 14738 | 0.2 | EZH2 SPI1 CBX8 | ENSG00000258507 LOC105374474 HMX1 CPZ |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IMP | 10206974 |
GO:0043565 | sequence-specific DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IC | 10206974 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0045892 | negative regulation of transcription, DNA-templated | IEA,IMP | 10206974 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | HMX1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HMX1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hmx1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hmx1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HMX1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HMX1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100333298 30 |
|
||
hmx1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Hmx 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ceh-27 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
669515 | Benign: not provided | 8,867,861(-) | T/C | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
677232 | Benign: not provided | 8,871,251(-) | C/T | MISSENSE_VARIANT | |
835635 | Uncertain Significance: not provided | 8,868,322(-) | T/C | MISSENSE_VARIANT,INTRON_VARIANT | |
845623 | Uncertain Significance: not provided | 8,871,494(-) | T/A | MISSENSE_VARIANT | |
846471 | Uncertain Significance: not provided | 8,867,916(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759222 | CNV | gain+loss | 17122850 |
esv2763860 | CNV | gain+loss | 21179565 |
esv34196 | OTHER | inversion | 12058347 |
nsv1005698 | CNV | gain | 25217958 |
nsv1073730 | CNV | deletion | 25765185 |
nsv1136380 | CNV | deletion | 24896259 |
nsv1144072 | CNV | deletion | 24896259 |
nsv428437 | CNV | gain | 18775914 |
nsv949788 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
oculoauricular syndrome |
|
|
anterior segment dysgenesis |
|
|
entropion |
|
|
microphthalmia |
|
|
cataract |
|
|