FHL2

This page contains an overview of the genetic variation in the FHL2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

FHL2 gene and transcript details

Gene Name
four and a half LIM domains 2

Gene Links
Ensembl: ENSG00000115641 - Locus Reference Genomic:

Genomic Location
Chromosome 2 : 105,977,740 - 106,002,973 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (837 bases)	Protein (279 aa)
	ENST00000358129	ENSP00000350846

	NM_201555.1
		Q14192

Summary of FHL2 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00235	0.00310	-0.08%
Truncating	0.00000	0.00010	-0.01%
Non-Truncating	0.00235	0.00300	-0.07%

Based on an analysis of rare variants (MAF<0.0001) in FHL2 detected in a cohort of 425 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of FHL2 in HCM (see study in the European Heart Journal), it is classified as:
Functional data only (no genetic evidence).

FHL2 variants in ExAC

Details of the protein-altering FHL2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

	Total Variants	Combined frequency of rare variants
All Variants	122	0.00178
Truncating	6	0.00005
Missense	99	0.00150
Inframe	0	0.00000
Splice Site	17	0.00023

Rare variants are defined as having a mean allelic frequency of less than 0.0001.