This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2k... See more...

Aliases for SERPINA2 Gene

Aliases for SERPINA2 Gene

  • Serpin Family A Member 2 (Gene/Pseudogene) 2 3 5
  • ARGS 2 3 4
  • ATR 2 3 4
  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 2, Pseudogene 2 3
  • Putative Alpha-1-Antitrypsin-Related Protein 3 4
  • SERPINA2P 3 4
  • Serpin A2 3 4
  • PIL 3 4
  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 2 (Gene/Pseudogene) 2
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 2 3
  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 2 2
  • Protease Inhibitor 1 (Alpha-1-Antitrypsin)-Like 2
  • Protease Inhibitor 1-Like 4
  • SERPINA2 5
  • PsiATR 3

External Ids for SERPINA2 Gene

Previous HGNC Symbols for SERPINA2 Gene

  • PIL
  • SERPINA2P

Previous GeneCards Identifiers for SERPINA2 Gene

  • GC14M092337
  • GC14M088646
  • GC14M092820
  • GC14M093900
  • GC14M094830
  • GC14M075010
  • GC14M094363
  • GC14M094404

Summaries for SERPINA2 Gene

Entrez Gene Summary for SERPINA2 Gene

  • This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation. [provided by RefSeq, Feb 2014]

GeneCards Summary for SERPINA2 Gene

SERPINA2 (Serpin Family A Member 2 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with SERPINA2 include Alpha-1-Antitrypsin Deficiency. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINA1.

UniProtKB/Swiss-Prot Summary for SERPINA2 Gene

Gene Wiki entry for SERPINA2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINA2 Gene

Genomics for SERPINA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SERPINA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J094366 Enhancer 0.9 Ensembl dbSUPER 257.7 -1.2 -1199 2.2 MXD4 HOMEZ ZNF511 SAP130 ETV4 CREM SPI1 SOX5 HMG20A TBX3 SERPINA2 SERPINA1 SERPINA9 DDX24 lnc-PPP4R4-1 HSALNG0103361
GH14J094365 Enhancer 0.2 Ensembl 250.7 +1.6 1601 0.2 SERPINA2 SERPINA1 ENSG00000256357 SERPINA9 IFI27L2 HSALNG0103361 SERPINA6
GH14J094384 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.1 -24.9 -24940 15.2 CEBPA FOXA1 ZFP64 ZNF217 ELF1 ZIC2 HOMEZ KDM6A THAP11 GABPA SERPINA1 lnc-SERPINA11-1 lnc-PPP4R4-1 DICER1 IFI27L2 SERPINA11 SERPINA9 ENSG00000256357 DDX24 SERPINA2
GH14J094373 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -7.8 -7799 3.4 FOXA2 SAP130 RXRA ZBTB33 TEAD3 RBM22 JUND KAT7 ZNF205 HNF4A DICER1 ENSG00000256357 SERPINA9 SERPINA2 SERPINA1 lnc-PPP4R4-1 HSALNG0103361
GH14J094341 Enhancer 1.1 FANTOM5 ENCODE 9.5 +24.4 24378 1.7 FEZF1 ZNF639 MAFF SAP130 RXRA SIN3A ZNF843 KLF9 ZBTB33 ZNF146 SERPINA2 PPP4R4 SERPINA1 HSALNG0103361 SERPINA6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINA2

Top Transcription factor binding sites by QIAGEN in the SERPINA2 gene promoter:
  • E2F
  • E2F-1
  • NF-kappaB
  • NF-kappaB1
  • STAT3

Genomic Locations for SERPINA2 Gene

Latest Assembly
chr14:94,364,313-94,366,702
(GRCh38/hg38)
Size:
2,390 bases
Orientation:
Minus strand

Previous Assembly
chr14:94,830,655-94,833,039
(GRCh37/hg19 by Entrez Gene)
Size:
2,385 bases
Orientation:
Minus strand

chr14:94,830,053-94,833,039
(GRCh37/hg19 by Ensembl)
Size:
2,987 bases
Orientation:
Minus strand

Genomic View for SERPINA2 Gene

Genes around SERPINA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINA2 Gene

Proteins for SERPINA2 Gene

  • Protein details for SERPINA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20848-A1ATR_HUMAN
    Recommended name:
    Putative alpha-1-antitrypsin-related protein
    Protein Accession:
    P20848

    Protein attributes for SERPINA2 Gene

    Size:
    420 amino acids
    Molecular mass:
    47891 Da
    Quaternary structure:
    • Interacts with CANX AND PDIA3.

neXtProt entry for SERPINA2 Gene

Post-translational modifications for SERPINA2 Gene

Other Protein References for SERPINA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SERPINA2 Gene

Domains & Families for SERPINA2 Gene

Gene Families for SERPINA2 Gene

Protein Domains for SERPINA2 Gene

Suggested Antigen Peptide Sequences for SERPINA2 Gene

GenScript: Design optimal peptide antigens:
  • Serpin A2 (A1ATR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20848

UniProtKB/Swiss-Prot:

A1ATR_HUMAN :
  • The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting inactive serpin-protease complex is highly stable (By similarity).
  • Belongs to the serpin family.
Domain:
  • The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting inactive serpin-protease complex is highly stable (By similarity).
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINA2: view

Function for SERPINA2 Gene

Molecular function for SERPINA2 Gene

UniProtKB/Swiss-Prot Function:
Putative serine protease inhibitor.

Phenotypes From GWAS Catalog for SERPINA2 Gene

Gene Ontology (GO) - Molecular Function for SERPINA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IBA 21873635
GO:0005515 protein binding IPI 23826168
genes like me logo Genes that share ontologies with SERPINA2: view
genes like me logo Genes that share phenotypes with SERPINA2: view

miRNA for SERPINA2 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SERPINA2 Gene

Localization for SERPINA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINA2 Gene

Endoplasmic reticulum.

Gene Ontology (GO) - Cellular Components for SERPINA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA,IBA 21873635
GO:0005783 endoplasmic reticulum IDA 23826168
genes like me logo Genes that share ontologies with SERPINA2: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for SERPINA2 Gene

Pathways & Interactions for SERPINA2 Gene

PathCards logo

SuperPathways for SERPINA2 Gene

No Data Available

Interacting Proteins for SERPINA2 Gene

Selected Interacting proteins: P20848-A1ATR_HUMAN for SERPINA2 Gene via IID

Symbol External ID(s) Details
SERPINA3
XRCC6

Gene Ontology (GO) - Biological Process for SERPINA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010951 negative regulation of endopeptidase activity IBA 21873635
genes like me logo Genes that share ontologies with SERPINA2: view

No data available for Pathways by source and SIGNOR curated interactions for SERPINA2 Gene

Drugs & Compounds for SERPINA2 Gene

(4) Drugs for SERPINA2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for SERPINA2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINA2: view

Transcripts for SERPINA2 Gene

mRNA/cDNA for SERPINA2 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA2

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA2 Gene

No ASD Table

Relevant External Links for SERPINA2 Gene

GeneLoc Exon Structure for
SERPINA2

Expression for SERPINA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINA2 Gene

Protein differential expression in normal tissues from HIPED for SERPINA2 Gene

This gene is overexpressed in Serum (43.3) and Kidney (24.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SERPINA2 Gene



Protein tissue co-expression partners for SERPINA2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINA2

mRNA Expression by UniProt/SwissProt for SERPINA2 Gene:

P20848-A1ATR_HUMAN
Tissue specificity: Expressed in the liver, leukocytes and testis. Also detected in brain, colon, uterus, esophagus, spleen, trachea, kidney and lung.
genes like me logo Genes that share expression patterns with SERPINA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINA2 Gene

Orthologs for SERPINA2 Gene

Evolution for SERPINA2 Gene

ENSEMBL:
Gene Tree for SERPINA2 (if available)
TreeFam:
Gene Tree for SERPINA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINA2: view image

No data available for Orthologs for SERPINA2 Gene

Paralogs for SERPINA2 Gene

genes like me logo Genes that share paralogs with SERPINA2: view

Variants for SERPINA2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINA2 Gene

A1ATR_HUMAN-P20848
The sequence shown is that of the V3 allele. Other alleles are: V1 and V2.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINA2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
VAR_070190 - p.Pro329Leu
VAR_070191 - p.Glu341Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINA2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SERPINA2 Gene

Variant ID Type Subtype PubMed ID
esv2749043 CNV deletion 23290073
esv3635377 CNV gain 21293372
esv988652 CNV insertion 20482838
nsv1120301 CNV tandem duplication 24896259
nsv1406 CNV insertion 18451855
nsv456405 CNV loss 19166990
nsv470662 CNV gain 18288195
nsv509545 CNV insertion 20534489
nsv512370 CNV loss 21212237
nsv513750 CNV insertion 21212237
nsv565622 CNV loss 21841781
nsv832862 CNV gain 17160897
nsv832863 CNV gain 17160897
nsv832864 CNV loss 17160897

Additional Variant Information for SERPINA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINA2

SNP Genotyping and Copy Number Assays for research

No data available for Variation tolerance for SERPINA2 Gene

Disorders for SERPINA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SERPINA2 Gene - From: GCD

Disorder Aliases PubMed IDs
alpha-1-antitrypsin deficiency
  • a1atd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERPINA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SERPINA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERPINA2 Gene

Publications for SERPINA2 Gene

  1. SERPINA2 is a novel gene with a divergent function from SERPINA1. (PMID: 23826168) Marques PI … Seixas S (PloS one 2013) 2 3 4
  2. Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2. (PMID: 17135331) Seixas S … Di Rienzo A (Molecular biology and evolution 2007) 3 4 23
  3. A linkage disequilibrium between genes at the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with Wegener's granulomatosis. (PMID: 11161981) Borgmann S … Fricke H (Clinical immunology (Orlando, Fla.) 2001) 3 23 41
  4. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3
  5. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl GR … Lerman C (Archives of general psychiatry 2008) 3 41

Products for SERPINA2 Gene

Sources for SERPINA2 Gene