SERPINA2 (serpin family A member 2 (gene/pseudogene)) - Rat Genome Database

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Gene: SERPINA2 (serpin family A member 2 (gene/pseudogene)) Homo sapiens
Analyze
Symbol: SERPINA2
Name: serpin family A member 2 (gene/pseudogene)
RGD ID: 1345816
HGNC Page HGNC:8985
Description: Predicted to enable serine-type endopeptidase inhibitor activity. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARGS; ATR; PIL; psiATR; putative alpha-1-antitrypsin-related protein; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2; serpin A2; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene); serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2, pseudogene; SERPINA2P
RGD Orthologs
Mouse
Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.; Note: Population studies indicate that this gene is polymorphic. Deletions, frameshift mutations and a critical start codon mutation (ATG->ATA) have been found in some populations as well as an allele that can encode a functional protein. This gene may be an evolving pseudogene (PMID: 17135331). The reference genome contains the start codon mutation and has a coding region deletion. The NCBI RefSeq Project therefore treats this as a pseudogene. [13 Feb 2013]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381494,364,318 - 94,366,702 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1494,364,316 - 94,366,698 (-)EnsemblGRCh38hg38GRCh38
GRCh371494,830,655 - 94,833,039 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361493,900,404 - 93,902,896 (-)NCBINCBI36Build 36hg18NCBI36
Celera1474,883,597 - 74,894,647 (-)NCBICelera
Cytogenetic Map14q32.13NCBI
HuRef1475,010,214 - 75,012,602 (-)NCBIHuRef
CHM1_11494,768,456 - 94,770,844 (-)NCBICHM1_1
T2T-CHM13v2.01488,593,837 - 88,596,220 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2470331   PMID:2842251   PMID:2901833   PMID:8227051   PMID:11161981   PMID:12621451   PMID:12878320   PMID:15014966   PMID:15769666   PMID:17135331   PMID:18519826   PMID:21873635  
PMID:21988832   PMID:23826168   PMID:24172014  


Genomics

Comparative Map Data
SERPINA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381494,364,318 - 94,366,702 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1494,364,316 - 94,366,698 (-)EnsemblGRCh38hg38GRCh38
GRCh371494,830,655 - 94,833,039 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361493,900,404 - 93,902,896 (-)NCBINCBI36Build 36hg18NCBI36
Celera1474,883,597 - 74,894,647 (-)NCBICelera
Cytogenetic Map14q32.13NCBI
HuRef1475,010,214 - 75,012,602 (-)NCBIHuRef
CHM1_11494,768,456 - 94,770,844 (-)NCBICHM1_1
T2T-CHM13v2.01488,593,837 - 88,596,220 (-)NCBIT2T-CHM13v2.0
Serpina1f
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912103,654,303 - 103,661,788 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12103,654,303 - 103,661,788 (-)EnsemblGRCm39 Ensembl
GRCm3812103,688,044 - 103,695,529 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12103,688,044 - 103,695,529 (-)EnsemblGRCm38mm10GRCm38
MGSCv3712104,926,254 - 104,933,739 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612104,090,683 - 104,096,579 (-)NCBIMGSCv36mm8
Celera12104,904,196 - 104,911,688 (-)NCBICelera
Cytogenetic Map12ENCBI
cM Map1252.98NCBI
Serpina1f
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86128,585,697 - 128,591,902 (-)NCBIGRCr8
mRatBN7.26122,820,752 - 122,827,112 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6122,820,907 - 122,827,112 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6122,961,569 - 122,967,774 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06123,256,845 - 123,263,050 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06122,593,734 - 122,599,939 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06127,564,811 - 127,571,016 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6127,564,811 - 127,571,016 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06136,783,583 - 136,789,788 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46127,952,484 - 127,958,689 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16127,956,329 - 127,997,803 (-)NCBI
Celera6120,301,254 - 120,307,459 (-)NCBICelera
Cytogenetic Map6q32NCBI

Variants

.
Variants in SERPINA2
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1 copy number loss See cases [RCV000051551] Chr14:90255156..95274696 [GRCh38]
Chr14:90721500..95741033 [GRCh37]
Chr14:89791253..94810786 [NCBI36]
Chr14:14q32.11-32.13		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3 copy number gain See cases [RCV000511246] Chr14:93498930..96059698 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 copy number loss not provided [RCV000683625] Chr14:84783137..96908198 [GRCh37]
Chr14:14q31.2-32.2		 pathogenic
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.13(chr14:94831963-94934610)x1 copy number loss not provided [RCV001006651] Chr14:94831963..94934610 [GRCh37]
Chr14:14q32.13		 uncertain significance
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 copy number loss Deletion syndrome [RCV001004048] Chr14:84783523..96907490 [GRCh37]
Chr14:14q31.2-32.2		 pathogenic
GRCh37/hg19 14q32.12-32.13(chr14:94442454-95185710) copy number gain not specified [RCV002052454] Chr14:94442454..95185710 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218) copy number gain not specified [RCV002052453] Chr14:94400492..96192218 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
NC_000014.8:g.(?_93687728)_(95560403_?)del deletion DICER1-related tumor predisposition [RCV002044285] Chr14:93687728..95560403 [GRCh37]
Chr14:14q32.12-32.13		 likely pathogenic
NC_000014.8:g.(?_90429459)_(97347545_?)dup duplication not provided [RCV003109490] Chr14:90429459..97347545 [GRCh37]
Chr14:14q32.11-32.2		 uncertain significance
NC_000014.8:g.(?_90429459)_(94856914_?)dup duplication Achondrogenesis, type IA [RCV003113413] Chr14:90429459..94856914 [GRCh37]
Chr14:14q32.11-32.13		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 copy number gain not provided [RCV002472541] Chr14:81593708..97059276 [GRCh37]
Chr14:14q31.1-32.2		 likely pathogenic
GRCh37/hg19 14q32.12-32.13(chr14:94637559-95522984)x3 copy number gain not provided [RCV002472422] Chr14:94637559..95522984 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
NM_006220.3(SERPINA2):c.31C>T (p.Leu11=) single nucleotide variant not provided [RCV003393576] Chr14:94366668 [GRCh38]
Chr14:94833005 [GRCh37]
Chr14:14q32.13		 likely benign
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:261
Count of miRNA genes:252
Interacting mature miRNAs:253
Transcripts:ENST00000553483
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
huma1ar2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371494,830,957 - 94,831,270UniSTSGRCh37
Build 361493,900,710 - 93,901,023RGDNCBI36
Celera1474,886,860 - 74,887,173RGD
Cytogenetic Map14q32.13UniSTS
HuRef1475,010,520 - 75,010,833UniSTS
GeneMap99-GB4 RH Map14252.33UniSTS
D14S1142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371494,837,423 - 94,837,577UniSTSGRCh37
Build 361493,907,176 - 93,907,330RGDNCBI36
Celera1474,893,326 - 74,893,480RGD
Cytogenetic Map14q32.13UniSTS
HuRef1475,016,987 - 75,017,145UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 1 1 2 1
Low 7 116 79 78 145 77 10 1 10 12 24 1
Below cutoff 205 649 274 220 781 205 267 95 192 80 314 336 21 84 110

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000553483   ⟹   ENSP00000486888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1494,364,316 - 94,366,698 (-)Ensembl
RefSeq Acc Id: NR_110563
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381494,364,318 - 94,366,702 (-)NCBI
CHM1_11494,768,460 - 94,770,844 (-)NCBI
T2T-CHM13v2.01488,593,837 - 88,596,220 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_006211 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51544 (Get FASTA)   NCBI Sequence Viewer  
  AGI62067 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000477957.2
  ENSP00000486888.3
  ENSP00000487283.1
GenBank Protein P20848 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: ENSP00000486888   ⟸   ENST00000553483
Protein Domains
SERPIN

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P20848-F1-model_v2 AlphaFold P20848 1-420 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8985 AgrOrtholog
COSMIC SERPINA2 COSMIC
Ensembl Genes ENSG00000258597 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSG00000274821 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000553483 ENTREZGENE
  ENST00000553483.4 UniProtKB/TrEMBL
  ENST00000616052.3 UniProtKB/Swiss-Prot
  ENST00000627359.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.39.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.497.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000258597 GTEx
  ENSG00000274821 GTEx
HGNC ID HGNC:8985 ENTREZGENE
Human Proteome Map SERPINA2 Human Proteome Map
InterPro Serpin_CS UniProtKB/Swiss-Prot
  Serpin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:390502 UniProtKB/Swiss-Prot
NCBI Gene 390502 ENTREZGENE
PANTHER ALPHA-1-ANTITRYPSIN-RELATED PROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11461 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Serpin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35520 PharmGKB
PROSITE SERPIN UniProtKB/Swiss-Prot
SMART SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56574 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JPK4 ENTREZGENE
  A0A0G2JS25_HUMAN UniProtKB/TrEMBL
  A0A0U1RQB8_HUMAN UniProtKB/TrEMBL
  A1ATR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  S4UD68 ENTREZGENE
UniProt Secondary A0A0G2JPK4 UniProtKB/Swiss-Prot
  S4UD68 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SERPINA2  serpin family A member 2 (gene/pseudogene)    serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene)  Symbol and/or name change 5135510 APPROVED
2014-03-05 SERPINA2  serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene)  SERPINA2P  serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2, pseudogene  Symbol and/or name change 5135510 APPROVED
2012-10-09 SERPINA2P  serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2, pseudogene  SERPINA2  serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2  Symbol and/or name change 5135510 APPROVED