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This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. [provided by RefSeq, Jul 2008]
HOXC4 (Homeobox C4) is a Protein Coding gene. Among its related pathways are Developmental Biology and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and HMG box domain binding. An important paralog of this gene is HOXD4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000980 | RNA polymerase II distal enhancer sequence-specific DNA binding | IDA | 15252056 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | NAS | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 15252056 |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
2 | Developmental Biology |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0009952 | anterior/posterior pattern specification | IBA | 21873635 |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA | 15252056 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | HOXC4 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | HOXC4 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | HOXC4 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Hoxc4 32 |
|
||
mouse (Mus musculus) |
Mammalia | Hoxc4 17 33 32 |
|
||
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | hoxc4 32 |
|
||
Str.7417 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | hoxc6-A-prov 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | hoxc4a 33 32 32 |
|
OneToMany | |
fruit fly (Drosophila melanogaster) |
Insecta | Scr 34 |
|
|
|
Dfd 33 34 |
|
OneToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000059230 | -- | 54,014,986(+) | G/A | upstream_transcript_variant | |
rs1000137595 | -- | 54,028,295(+) | T/G | genic_upstream_transcript_variant, intron_variant | |
rs1000191769 | -- | 54,028,030(+) | C/G | genic_upstream_transcript_variant, intron_variant | |
rs1000269134 | -- | 54,022,527(+) | T/C | genic_upstream_transcript_variant, intron_variant | |
rs1000358677 | -- | 54,044,367(+) | A/C | genic_upstream_transcript_variant, intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2672088 | CNV | deletion | 23128226 |
esv2759900 | CNV | gain+loss | 17122850 |
nsv428282 | CNV | gain | 18775914 |
nsv472156 | CNV | novel sequence insertion | 20440878 |
nsv558998 | CNV | loss | 21841781 |
nsv716 | CNV | insertion | 18451855 |
nsv826379 | CNV | gain | 20364138 |
nsv832418 | CNV | loss | 17160897 |
nsv952182 | CNV | deletion | 24416366 |
No disorders were found for HOXC4 Gene.