FHL5
four and a half LIM domains 5
Summary
The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Polymorphisms in this gene may be associated with susceptibility for migraine headaches. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Apr 2016]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3798293 | 6:97,033,370 | A/G | intron variant | — |
| rs67338227 | 6:97,042,147 | A/T | intron variant | — |
| rs758992147 | 6:97,051,500 | C/T | — | uncertain significance |
| rs2482788729 | 6:97,051,587 | A/T | — | uncertain significance |
| rs770381788 | 6:97,052,645 | G/T | — | uncertain significance |
| rs1331026642 | 6:97,052,726 | G/A | — | uncertain significance |
| rs540080032 | 6:97,052,789 | C/A | — | uncertain significance |
| rs1771240539 | 6:97,052,796 | G/T | — | uncertain significance |
| rs762825479 | 6:97,053,783 | C/T | — | uncertain significance |
| rs780303066 | 6:97,053,854 | A/G | — | uncertain significance |
| rs7741683 | 6:97,054,493 | A/G | intron variant | — |
| rs7775721 | 6:97,056,979 | C/T | intron variant | — |
| rs369896846 | 6:97,058,533 | G/C | — | uncertain significance |
| rs2482807189 | 6:97,058,548 | T/C | — | uncertain significance |
| rs754828656 | 6:97,058,559 | G/A | — | uncertain significance |
| rs9486715 | 6:97,059,769 | A/C | intron variant | — |
| rs2482819297 | 6:97,063,566 | C/A | — | uncertain significance |
| rs11759769 | 6:97,065,212 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.