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:	ENST00000393353, NP_001034581, NP_001441, ENST00000452732, NP_001305827, ENST00000358129, ENST00000409177, NP_001305824, NP_963851, ENST00000322142.8, ENST00000393352, ENST00000607522, NP_001361328, ENST00000447958, NP_001305826, ENST00000344213, ENST00000408995, NP_001305823, NP_963849, ENST00000322142, ENST00000358129.4, ENST00000530340, NP_001305828, ENST00000409807, NP_001305825, ENST00000336660
Statistics:	ClinVar(94)

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.
ENST00000336660 ENST00000344213 ENST00000358129 ENST00000393352 ENST00000393353 ENST00000408995 ENST00000409177 ENST00000409807 ENST00000447958 ENST00000452732 ENST00000530340 ENST00000607522 NP_001034581 NP_001305823 NP_001305824 NP_001305825 NP_001305826 NP_001305827 NP_001305828 NP_001361328 NP_001441 NP_963849 NP_963851 ">ENST00000322142 You are here now! 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

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
No data available in table

Showing 0 to 0 of 0 entries

Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

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

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
NO DOMAINS EXIST

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