SERPINA12

serpin family A member 12, the group of Serpin peptidase inhibitors

Basic information

Region (hg38): 14:94487274-94517844

Links

ENSG00000165953NCBI:145264OMIM:617471HGNC:18359Uniprot:Q8IW75AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • hereditary palmoplantar keratoderma, Gamborg-Nielsen type (Supportive), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SERPINA12 gene.

  • not_specified (61 variants)
  • not_provided (7 variants)
  • Hereditary_palmoplantar_keratoderma,_Gamborg-Nielsen_type (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINA12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001382267.1. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
missense
58
clinvar
5
clinvar
2
clinvar
65
nonsense
1
clinvar
1
clinvar
2
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 1 0 58 6 4

Highest pathogenic variant AF is 0.0000024787

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SERPINA12protein_codingprotein_codingENST00000341228 430571
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
7.72e-70.300124288514551257480.00582
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.042782331.190.00001262757
Missense in Polyphen8870.6071.2463936
Synonymous-0.45310397.31.060.00000611796
Loss of Function0.3401011.20.8914.76e-7149

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.005120.00510
Ashkenazi Jewish0.0002110.000198
East Asian0.006910.00693
Finnish0.01200.0117
European (Non-Finnish)0.008130.00791
Middle Eastern0.006910.00693
South Asian0.0008230.000784
Other0.004610.00441

dbNSFP

Source: dbNSFP

Function
FUNCTION: Adipokine that modulates insulin action by specifically inhibiting its target protease KLK7 in white adipose tissues. {ECO:0000269|PubMed:16030142}.;

Recessive Scores

pRec
0.122

Intolerance Scores

loftool
rvis_EVS
1.42
rvis_percentile_EVS
94.92

Haploinsufficiency Scores

pHI
0.0333
hipred
N
hipred_score
0.123
ghis
0.391

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.206

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Serpina12
Phenotype
growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; liver/biliary system phenotype;

Gene ontology

Biological process
negative regulation of endopeptidase activity;positive regulation of phosphatidylinositol 3-kinase signaling;negative regulation of gluconeogenesis;positive regulation of insulin receptor signaling pathway;negative regulation of lipid biosynthetic process;regulation of cholesterol metabolic process;regulation of triglyceride metabolic process
Cellular component
extracellular space;plasma membrane
Molecular function
serine-type endopeptidase inhibitor activity