FBLN2

fibulin 2, the group of Fibulins

Basic information

Region (hg38): 3:13549125-13638422

Links

ENSG00000163520 ∙ NCBI:2199 ∙ OMIM:135821 ∙ HGNC:3601 ∙ Uniprot:P98095 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• congenital heart disease (Limited), mode of inheritance: AD
• pulmonary arterial hypertension (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FBLN2 gene.

• not_specified (203 variants)
• not_provided (6 variants)
• Pulmonary_arterial_hypertension (1 variants)
• Erythrocytosis,_familial,_4 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBLN2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001004019.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	3	6
missense			197	6	2	205
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	197	9	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBLN2	protein_coding	protein_coding	ENST00000404922	17	106099

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000701	1.00	124641	0	37	124678	0.000148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.766	705	765	0.922	0.0000504	7887
Missense in Polyphen		257	336.92	0.7628		3615
Synonymous	0.624	320	335	0.957	0.0000248	2450
Loss of Function	4.38	19	53.6	0.354	0.00000282	591

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000378	0.000376
Ashkenazi Jewish	0.000200	0.000199
East Asian	0.000116	0.000111
Finnish	0.000244	0.000232
European (Non-Finnish)	0.000155	0.000150
Middle Eastern	0.000116	0.000111
South Asian	0.000102	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Its binding to fibronectin and some other ligands is calcium dependent. May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108). {ECO:0000269|PubMed:17255108}.
• Pathway: Extracellular matrix organization;Molecules associated with elastic fibres;Elastic fibre formation (Consensus)

Recessive Scores

• pRec: 0.225

Intolerance Scores

• loftool: 0.0720
• rvis_EVS: -1.09
• rvis_percentile_EVS: 6.99

Haploinsufficiency Scores

• pHI: 0.766
• hipred: Y
• hipred_score: 0.736
• ghis: 0.543

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.586

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fbln2

Gene ontology

• Biological process: positive regulation of cell-substrate adhesion;extracellular matrix organization
• Cellular component: extracellular region;extracellular matrix;collagen-containing extracellular matrix;extracellular vesicle
• Molecular function: extracellular matrix structural constituent;calcium ion binding;extracellular matrix constituent conferring elasticity;extracellular matrix binding