HOXC4
homeobox C4
Summary
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]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs736825 | 12:54,417,576 | C/T | — | — |
| rs894736 | 12:54,418,166 | A/G | regulatory region variant | — |
| rs7308105 | 12:54,424,123 | T/C | regulatory region variant | — |
| rs4759319 | 12:54,424,731 | G/T | upstream gene variant | — |
| rs10747689 | 12:54,425,471 | C/A | — | — |
| rs2071449 | 12:54,428,011 | C/A | regulatory region variant | — |
| rs2071450 | 12:54,428,532 | C/T | coding sequence variant | — |
| rs61921797 | 12:54,428,747 | G/A | coding sequence variant | — |
| rs7315495 | 12:54,440,445 | A/C | — | — |
| rs7134677 | 12:54,441,498 | C/T | regulatory region variant | — |
| rs2540272662 | 12:54,447,783 | A/G | — | uncertain significance |
| rs1383066238 | 12:54,447,789 | A/G | — | uncertain significance |
| rs369142454 | 12:54,447,963 | C/T | — | uncertain significance |
| rs2540273302 | 12:54,447,977 | C/T | — | uncertain significance |
| rs371650916 | 12:54,447,990 | A/G | — | uncertain significance |
| rs138201582 | 12:54,448,075 | C/T | — | likely benign |
| rs1478356894 | 12:54,448,093 | C/A | — | likely benign |
| rs75256744 | 12:54,448,106 | A/C | missense variant | — |
| rs201279056 | 12:54,448,837 | C/A | — | uncertain significance |
| rs899155158 | 12:54,448,847 | C/T | — | uncertain significance |
| rs757049815 | 12:54,448,870 | C/A | — | uncertain significance |
| rs1386556962 | 12:54,448,886 | C/A | — | uncertain significance |
| rs759935704 | 12:54,448,942 | G/A | — | uncertain significance |
| rs751831328 | 12:54,448,958 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.