FHL5: Four and a Half LIM Domains 5
A LIM-only protein involved in transcriptional regulation and spermatogenesis
Gene Information Card
| Symbol | FHL5 |
|---|---|
| Full Name | Four and a Half LIM Domains 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q16.1 |
| NCBI Gene ID | 9457 ncbi.nlm.nih.gov/gene/9457 |
| Ensembl ID | ENSG00000112214 |
| UniProt ID | Q5TD97 |
| OMIM ID | 605126 |
| HGNC ID | 3706 |
| Aliases | ACT, dJ393D12.2, FHL-5, FLJ12986 |
Description
FHL5 (four and a half LIM domains 5) encodes a member of the four-and-a-half-LIM-only protein family. The protein functions as a transcriptional coactivator, specifically interacting with CREM (cAMP responsive element modulator) in testis, and is essential for spermatogenesis. It contains four and a half LIM domains, which mediate protein-protein interactions. FHL5 is also implicated in cellular differentiation and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss of FHL5 disrupts CREM-dependent transcription required for spermatid maturation | OMIM 605126; NCBI Gene |
| Cancer (potential role) | Altered expression may affect transcriptional programs in tumorigenesis; limited direct evidence | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Heart | 6.1 | Low |
| Skeletal Muscle | 4.8 | Low |
| Brain | 2.3 | Not detected |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Low expression |
| K562 | 0.3 | Low expression |
| HEK293 | 0.4 | Low expression |
| Testis-derived cell lines | 45.0 | High expression (consistent with tissue data) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.202C>T (p.Arg68Trp) | Missense | <0.01% | Unknown significance; rare variant |
| c.421_423del (p.Lys141del) | In-frame deletion | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting the start codon or introducing premature stop codons are predicted to cause loss of function, potentially impairing spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FHL5.
Dominant Negative (DN)
No dominant-negative mutations have been described for FHL5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• CREM-dependent transcription in spermatogenesis
• cAMP signaling pathway (via CREM coactivation)
Protein Summary
FHL5 is a 286-amino acid protein containing four and a half LIM domains. It localizes to the nucleus and acts as a transcriptional coactivator for CREM, a key regulator of post-meiotic gene expression in male germ cells. The protein is highly expressed in testis and is critical for normal spermatogenesis. LIM domains facilitate interactions with other proteins, modulating chromatin remodeling and transcription.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FHL5 Knockout HEK293 Cell Line | EDJ-KQ6592 | Human | 9457 | Details Get a Quote |
| FHL5 Knockout HeLa Cell Line | EDJ-KQ55170 | Human | 9457 | Details Get a Quote |
| FHL5 Knockout A-549 Cell Line | EDJ-KQ63650 | Human | 9457 | Details Get a Quote |
| FHL5 Knockout HCT 116 Cell Line | EDJ-KQ72111 | Human | 9457 | Details Get a Quote |
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