ConVarT

FHL2 (GeneID: 2274) | Homo sapiens

Description:	four and a half LIM domains 2 [Source:HGNC Symbol;Acc:HGNC:3703]
Synonyms:	SLIM-3, AAG11, FHL-2, SLIM3, DRAL
Other ID(s):	HGNC:3703, ENSG00000115641
Protein Accession Numbers:	NP_001034581, NP_001441, ENST00000393353, ENST00000452732, NP_001305827, ENST00000358129, ENST00000409177, NP_001305824, NP_963851, ENST00000322142.8, ENST00000607522, NP_001361328, ENST00000393352, ENST00000447958, NP_001305826, ENST00000344213, NP_001305823, NP_963849, ENST00000322142, ENST00000408995, ENST00000530340, NP_001305828, ENST00000358129.4, ENST00000409807, NP_001305825, ENST00000336660
Statistics:	ClinVar(704) gnomAD(1374) COSMIC(1003) PTM(40)

ClinVar Pathogenicity of Variations

Benign

Conflicting

VUS

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000322142 You are here now! ENST00000336660 ENST00000344213 ENST00000358129 You are here now! ENST00000393352 You are here now! ENST00000393353 You are here now! ENST00000408995 You are here now! ENST00000409177 ENST00000409807 You are here now! ENST00000447958 ENST00000452732 ENST00000530340 ENST00000607522 NP_001034581 You are here now! NP_001305823 You are here now! NP_001305824 You are here now! NP_001305825 You are here now! NP_001305826 NP_001305827 NP_001305828 NP_001361328 You are here now! NP_001441 You are here now! NP_963849 You are here now! NP_963851 You are here now!

ClinVar Data

Show entries

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	rsNumber
2-105977752-C-G	ENST00000322142	p.Gly276Gly	Synonymous Variant	rs780294130
2-105977752-C-G	ENST00000358129	p.Gly276Gly	Synonymous Variant	rs780294130
2-105977752-C-G	ENST00000393352	p.Gly276Gly	Synonymous Variant	rs780294130
2-105977752-C-G	ENST00000393353	p.Gly276Gly	Synonymous Variant	rs780294130
2-105977752-C-G	ENST00000408995	p.Gly276Gly	Synonymous Variant	rs780294130
2-105977752-C-G	ENST00000409807	p.Gly276Gly	Synonymous Variant	rs780294130
2-105977756-C-T	ENST00000322142	p.Cys275Tyr	Missense Variant	rs749472445
2-105977756-C-T	ENST00000358129	p.Cys275Tyr	Missense Variant	rs749472445
2-105977756-C-T	ENST00000393352	p.Cys275Tyr	Missense Variant	rs749472445
2-105977756-C-T	ENST00000393353	p.Cys275Tyr	Missense Variant	rs749472445
2-105977756-C-T	ENST00000408995	p.Cys275Tyr	Missense Variant	rs749472445
2-105977756-C-T	ENST00000409807	p.Cys275Tyr	Missense Variant	rs749472445
2-105977757-A-G	ENST00000322142	p.Cys275Arg	Missense Variant	rs730880110
2-105977757-A-G	ENST00000358129	p.Cys275Arg	Missense Variant	rs730880110
2-105977757-A-G	ENST00000393352	p.Cys275Arg	Missense Variant	rs730880110
2-105977757-A-G	ENST00000393353	p.Cys275Arg	Missense Variant	rs730880110
2-105977757-A-G	ENST00000408995	p.Cys275Arg	Missense Variant	rs730880110
2-105977757-A-G	ENST00000409807	p.Cys275Arg	Missense Variant	rs730880110
2-105977759-T-C	ENST00000322142	p.Asp274Gly	Missense Variant	rs779103780
2-105977759-T-C	ENST00000358129	p.Asp274Gly	Missense Variant	rs779103780

Showing 1 to 20 of 1,374 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Sumoylation

Ubiquitination

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
FHL2	Q14192	Ubiquitination	100	K100-ub	ySNEySSkCQECKkt	32.19	964515262
FHL2	Q14192	Ubiquitination	106	K106-ub	SkCQECKktIMPGtR	32.19	27189724
FHL2	Q14192	Phosphorylation	107	T107-p	kCQECKktIMPGtRK	32.19	23106931
FHL2	Q14192	Phosphorylation	112	T112-p	KktIMPGtRKMEYkG	32.19	23106934
FHL2	Q14192	Sumoylation	118	K118-sm	GtRKMEYkGSSWHET	32.19	55430867
FHL2	Q14192	Phosphorylation	13	S13-p	DCHHCNEsLFGkKYI	32.19	56658104
FHL2	Q14192	Phosphorylation	138	T138-p	RCQQPIGtksFIPkD	32.19	23106937
FHL2	Q14192	Ubiquitination	139	K139-ub	CQQPIGtksFIPkDN	32.19	63726782
FHL2	Q14192	Sumoylation	139	K139-sm	CQQPIGtksFIPkDN	32.19	55430871
FHL2	Q14192	Phosphorylation	140	S140-p	QQPIGtksFIPkDNQ	32.19	23106928
FHL2	Q14192	Ubiquitination	144	K144-ub	GtksFIPkDNQNFCV	32.19	964515264
FHL2	Q14192	Sumoylation	144	K144-sm	GtksFIPkDNQNFCV	32.19	55430875
FHL2	Q14192	Phosphorylation	154	Y154-p	QNFCVPCyEkQHAMQ	32.19	4942797
FHL2	Q14192	Ubiquitination	156	K156-ub	FCVPCyEkQHAMQCV	32.19	964515266
FHL2	Q14192	Ubiquitination	166	K166-ub	AMQCVQCkkPITTGG	32.19	964515268
FHL2	Q14192	Ubiquitination	167	K167-ub	MQCVQCkkPITTGGV	32.19	15388726
FHL2	Q14192	Sumoylation	167	K167-sm	MQCVQCkkPITTGGV	32.19	55430879
FHL2	Q14192	Ubiquitination	17	K17-ub	CNEsLFGkKYILREE	32.19	964515270
FHL2	Q14192	Phosphorylation	175	T175-p	PITTGGVtyREQPWH	32.19	23106940
FHL2	Q14192	Phosphorylation	176	Y176-p	ITTGGVtyREQPWHK	32.19	23106943

Showing 1 to 20 of 40 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
FHL2	ENST00000358129	TUD-AMP-722	pancreas	carcinoma	34689260	c.83G>T	p.C28F	Substitution - Missense	PATHOGENIC	.97681	Confirmed somatic variant	PMID: 26804919	NS	28
FHL2	ENST00000358129	TCGA-CZ-5468-01	kidney	carcinoma	34689030	c.700A>G	p.T234A	Substitution - Missense	PATHOGENIC	.86341	Confirmed somatic variant	PMID: N/A	primary	234
FHL2	ENST00000358129	T5	breast	carcinoma	34688836	c.120C>T	p.C40=	Substitution - coding silent		.64783	Confirmed somatic variant	PMID: 26249178	NS	40
FHL2	ENST00000358129	SJHGG028_D	central_nervous_system	glioma	34689475	c.156+2300G>A	p.?	Unknown	NEUTRAL	.40216	Confirmed somatic variant	PMID: 24705251	NS	0
FHL2	ENST00000358129	PCSI_0468_Pa_P_526	pancreas	carcinoma	34687871	c.502-872G>A	p.?	Unknown	NEUTRAL	.00173	Confirmed somatic variant	PMID: N/A	primary	0
FHL2	ENST00000358129	TCGA-G4-6625-01	large_intestine	carcinoma	34687573	c.156+810C>G	p.?	Unknown	NEUTRAL	.11632	Confirmed somatic variant	PMID: 22810696	NS	0
FHL2	ENST00000358129	MEN0054G-P	meninges	meningioma	34689442	c.-197+137G>A	p.?	Unknown	NEUTRAL	.00668	Confirmed somatic variant	PMID: 28713588	NS	0
FHL2	ENST00000358129	8066067	pancreas	carcinoma	34688723	c.-146+95T>C	p.?	Unknown	NEUTRAL	.00167	Confirmed somatic variant	PMID: N/A	NS	0
FHL2	ENST00000358129	AOCS-135-3-1	ovary	carcinoma	34688659	c.688+351T>C	p.?	Unknown	NEUTRAL	.04096	Confirmed somatic variant	PMID: N/A	NS	0
FHL2	ENST00000358129	BIALCL_06	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	34689208	c.610G>A	p.D204N	Substitution - Missense	PATHOGENIC	.97653	Confirmed somatic variant	PMID: 31774495	NS	204
FHL2	ENST00000358129	0076_CRUK_PC_0076_T1_DNA	prostate	carcinoma	34687290	c.-24-1713_-24-1712insATTTTAGGT	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
FHL2	ENST00000358129	ML_75_T_01	skin	carcinoma	34687122	c.501+1800T>C	p.?	Unknown	NEUTRAL	.00091	Confirmed somatic variant	PMID: N/A	primary	0
FHL2	ENST00000358129	60T	liver	other	34688672	c.331+1457A>G	p.?	Unknown	NEUTRAL	.01604	Confirmed somatic variant	PMID: N/A	primary	0
FHL2	ENST00000358129	H2342	lung	carcinoma	34689260	c.83G>T	p.C28F	Substitution - Missense	PATHOGENIC	.97681	Reported in another cancer sample as somatic	PMID: 29681454	NS	28
FHL2	ENST00000358129	CN-AML-08-T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	34686722	c.689-12C>G	p.?	Unknown	NEUTRAL	.4045	Confirmed somatic variant	PMID: N/A	primary	0
FHL2	ENST00000358129	CN-AML-08-T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	34687547	c.-189G>A	p.?	Unknown	NEUTRAL	.01662	Confirmed somatic variant	PMID: N/A	primary	0
FHL2	ENST00000358129	CPCG0350-F1	prostate	carcinoma	34688495	c.157-2484C>A	p.?	Unknown	NEUTRAL	.00193	Confirmed somatic variant	PMID: N/A	primary	0
FHL2	ENST00000358129	RKO	large_intestine	carcinoma	34687135	c.575G>A	p.R192K	Substitution - Missense	NEUTRAL	.32241	Reported in another cancer sample as somatic	PMID: 24755471	NS	192
FHL2	ENST00000358129	TCGA-DU-7294-01	central_nervous_system	glioma	34687759	c.123G>T	p.E41D	Substitution - Missense	PATHOGENIC	.93111	Confirmed somatic variant	PMID: N/A	NS	41
FHL2	ENST00000358129	THCC_124T	liver	other	34687648	c.157-4713C>A	p.?	Unknown	NEUTRAL	.05678	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 1,003 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00412	LIM	LIM domain	101-158	CL0167	Zn_Beta_Ribbon	Homo sapiens
PF00412	LIM	LIM domain	162-217	CL0167	Zn_Beta_Ribbon	Homo sapiens
PF00412	LIM	LIM domain	40-97	CL0167	Zn_Beta_Ribbon	Homo sapiens
PF00412	LIM	LIM domain	221-278	CL0167	Zn_Beta_Ribbon	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.588	0.517
Cardiomyopathy, Dilated	Cardiovascular Diseases ;	0.588	0.517
Cardiomegaly	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.588	0.517
Leukemia, Myelocytic, Acute	Neoplasms ;	0.588	0.517
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.588	0.517
Acute Myeloid Leukemia, M1	Neoplasms ;	0.588	0.517
Conduction disorder of the heart	Cardiovascular Diseases ;	0.588	0.517
Familial dilated cardiomyopathy	Cardiovascular Diseases ;	0.588	0.517
Breast Carcinoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.588	0.517
Mammary Neoplasms, Human	Neoplasms ; Skin and Connective Tissue Diseases ;	0.588	0.517
Cardiac Hypertrophy	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.588	0.517
Mammary Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.588	0.517
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.588	0.517
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data