ANGPTL2

angiopoietin like 2, the group of Fibrinogen C domain containing|Angiopoietin like family

Basic information

Region (hg38): 9:127087348-127122635

Links

ENSG00000136859 ∙ NCBI:23452 ∙ OMIM:605001 ∙ HGNC:490 ∙ Uniprot:Q9UKU9 ∙ 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 ANGPTL2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANGPTL2 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			28			28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	0	0

Variants in ANGPTL2

This is a list of pathogenic ClinVar variants found in the ANGPTL2 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-127088952-T-C		not specified	Uncertain significance (Oct 03, 2022)
9-127089043-T-C		not specified	Uncertain significance (Jun 16, 2023)
9-127089046-G-A		not specified	Uncertain significance (Feb 10, 2022)
9-127091685-G-A		not specified	Uncertain significance (May 03, 2023)
9-127091715-C-T		not specified	Uncertain significance (Jan 02, 2024)
9-127091757-G-A		not specified	Uncertain significance (Aug 13, 2021)
9-127093843-G-A		not specified	Uncertain significance (Aug 09, 2021)
9-127093857-G-A		not specified	Uncertain significance (Nov 08, 2021)
9-127107929-G-A		not specified	Uncertain significance (Apr 13, 2022)
9-127107957-G-A		not specified	Uncertain significance (Mar 17, 2023)
9-127107975-G-T		not specified	Uncertain significance (May 16, 2024)
9-127108068-G-A		not specified	Uncertain significance (Dec 08, 2023)
9-127108071-G-A		not specified	Uncertain significance (Nov 08, 2022)
9-127108154-T-A		not specified	Uncertain significance (Sep 12, 2023)
9-127108163-G-C		not specified	Uncertain significance (Oct 26, 2022)
9-127108287-G-A		not specified	Uncertain significance (May 13, 2022)
9-127108389-C-T		not specified	Uncertain significance (Oct 20, 2021)
9-127108418-G-A		not specified	Uncertain significance (Aug 21, 2023)
9-127108423-G-C		not specified	Uncertain significance (Feb 21, 2024)
9-127108476-T-C		not specified	Uncertain significance (Jun 18, 2024)
9-127108478-T-G		not specified	Uncertain significance (Oct 02, 2023)
9-127108506-G-C		not specified	Uncertain significance (Oct 18, 2021)
9-127108521-C-T		not specified	Uncertain significance (Jan 23, 2023)
9-127108539-C-T		not specified	Uncertain significance (Jun 21, 2021)
9-127108541-C-T		not specified	Uncertain significance (Feb 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANGPTL2	protein_coding	protein_coding	ENST00000373425	4	35552

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00147	0.997	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.20	253	313	0.809	0.0000212	3211
Missense in Polyphen		84	126.17	0.66577		1343
Synonymous	0.667	132	142	0.929	0.0000104	974
Loss of Function	2.81	9	23.8	0.378	0.00000120	233

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000465	0.0000462
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Induces sprouting in endothelial cells through an autocrine and paracrine action.

Recessive Scores

• pRec: 0.134

Intolerance Scores

• loftool: 0.321
• rvis_EVS: -0.87
• rvis_percentile_EVS: 10.73

Haploinsufficiency Scores

• pHI: 0.780
• hipred: Y
• hipred_score: 0.685
• ghis: 0.559

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.113

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Angptl2
• Phenotype: immune system phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: multicellular organism development
• Cellular component: extracellular space;collagen-containing extracellular matrix;extracellular exosome
• Molecular function: signaling receptor binding;protein binding