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

Phenotypes

GenCC

Source: genCC

No genCC data.

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.

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				1 clinvar		1
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	1	0

Variants in SERPINA2

This is a list of pathogenic ClinVar variants found in the SERPINA2 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-94366668-G-A			Likely benign (Jan 01, 2023)	2644478

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

Haploinsufficiency Scores

pHI: 0.0188
hipred: Y
hipred_score: 0.719
ghis

Mouse Genome Informatics

Gene name: Atr
Phenotype: pigmentation phenotype; neoplasm; 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); hematopoietic system phenotype; reproductive system phenotype; 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); normal phenotype; respiratory system phenotype; liver/biliary system phenotype; embryo phenotype; skeleton phenotype; renal/urinary system phenotype; immune system phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); 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); homeostasis/metabolism phenotype; cellular phenotype; craniofacial phenotype;

Gene ontology

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