SERPINA2

serpin family A member 2 (gene/pseudogene), the group of Serpin peptidase inhibitors

Basic information

Region (hg38): 14:94364316-94366698

Previous symbols: [ "PIL", "SERPINA2P" ]

Links

ENSG00000258597

∙ NCBI:390502 ∙ OMIM:107410 ∙ HGNC:8985 ∙ Uniprot:P20848 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 1 of 1.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
`ENST00000553483.4`	`ENSP00000486888.3`	2	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

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ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SERPINA2 gene.

not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINA2 gene is commonly pathogenic or not. These statistics are base on transcript: . 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	1	0

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GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Putative serine protease inhibitor.;

Recessive Scores

pRec: 0.143

Intolerance Scores

loftool
rvis_EVS: -1.64
rvis_percentile_EVS: 2.79

Gene ontology

Biological process: negative regulation of endopeptidase activity
Cellular component: extracellular space;endoplasmic reticulum
Molecular function: serine-type endopeptidase inhibitor activity;protein binding