FGL2

fibrinogen like 2, the group of Fibrinogen C domain containing

Basic information

Region (hg38): 7:77193368-77199848

Links

ENSG00000127951 ∙ NCBI:10875 ∙ OMIM:605351 ∙ HGNC:3696 ∙ Uniprot:Q14314 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FGL2 gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGL2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in FGL2

This is a list of pathogenic ClinVar variants found in the FGL2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-77196509-C-A		not specified	Uncertain significance (Sep 29, 2022)
7-77196781-G-C		not specified	Uncertain significance (Mar 14, 2023)
7-77196947-C-T		not specified	Likely benign (Nov 14, 2023)
7-77196981-TTGAA-T			Uncertain significance (Mar 26, 2024)
7-77199184-G-C		not specified	Uncertain significance (Jan 04, 2022)
7-77199199-G-C		not specified	Uncertain significance (Oct 12, 2022)
7-77199277-C-A		not specified	Uncertain significance (Aug 13, 2021)
7-77199502-C-G		not specified	Uncertain significance (Jun 14, 2023)
7-77199529-C-T		not specified	Uncertain significance (Oct 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FGL2	protein_coding	protein_coding	ENST00000248598	2	6456

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000615	0.905	125685	0	58	125743	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.585	205	230	0.891	0.0000119	2917
Missense in Polyphen		53	75.179	0.70499		931
Synonymous	0.318	84	87.8	0.957	0.00000479	807
Loss of Function	1.54	9	15.6	0.578	7.36e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00152	0.00149
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000705	0.0000703
Middle Eastern	0.000163	0.000163
South Asian	0.000229	0.000229
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in physiologic lymphocyte functions at mucosal sites.
• Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.321

Intolerance Scores

• loftool: 0.559
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.35

Haploinsufficiency Scores

• pHI: 0.173
• hipred: N
• hipred_score: 0.444
• ghis: 0.490

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.127

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fgl2
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); immune system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: proteolysis;neutrophil degranulation
• Cellular component: extracellular region;fibrinogen complex;collagen-containing extracellular matrix;extracellular exosome;ficolin-1-rich granule lumen
• Molecular function: extracellular matrix structural constituent;peptidase activity