SERP2

stress associated endoplasmic reticulum protein family member 2

Basic information

Region (hg38): 13:44373664-44397714

Previous symbols: [ "C13orf21" ]

Links

ENSG00000151778

∙ NCBI:387923 ∙ ∙ HGNC:20607 ∙ Uniprot:Q8N6R1 ∙ 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 SERP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERP2 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			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in SERP2

This is a list of pathogenic ClinVar variants found in the SERP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-44374072-A-G		not specified	Uncertain significance (Sep 14, 2022)	2312558

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERP2	protein_coding	protein_coding	ENST00000379179	3	24050

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.668	0.312	108726	0	1	108727	0.00000460

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.917	19	34.1	0.558	0.00000148	422
Missense in Polyphen		8	11.161	0.71677		142
Synonymous	-1.81	20	12.0	1.66	6.17e-7	112
Loss of Function	1.76	0	3.59	0.00	1.52e-7	44

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	0.00	0.00
European (Non-Finnish)	0.0000102	0.0000102
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: May interact with target proteins during translocation into the lumen of the endoplasmic reticulum. May protect unfolded target proteins against degradation and facilitate correct glycosylation (Potential). {ECO:0000305}.;

Intolerance Scores

loftool
rvis_EVS: 0.1
rvis_percentile_EVS: 60.96

Haploinsufficiency Scores

pHI: 0.265
hipred: N
hipred_score: 0.279
ghis: 0.610

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.318

Mouse Genome Informatics

Gene name: Serp2
Phenotype

Gene ontology

Biological process: protein glycosylation;protein transport;endoplasmic reticulum unfolded protein response
Cellular component: endoplasmic reticulum membrane;integral component of membrane
Molecular function: protein binding