FHL5

Chr 6

four and a half LIM domains 5

Also known as: 1700027G07Rik, ACT, FHL-5, dJ393D12.2

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]

GeneReviewsResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
1.61
LOEUF
Mechanism
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GeneReview available — FHL5
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.61LOEUF
pLI 0.000
Z-score -0.14
OE 1.04 (0.691.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.31Z-score
OE missense 1.07 (0.941.22)
161 obs / 150.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.04 (0.691.61)
00.351.4
Missense OE?1.07 (0.941.22)
00.61.4
Synonymous OE?0.92
01.21.6
LoF obs/exp: 14 / 13.4Missense obs/exp: 161 / 150.2Syn Z: 0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FHL5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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