SPRR2E (small proline rich protein 2E) - Rat Genome Database

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Gene: SPRR2E (small proline rich protein 2E) Homo sapiens
Analyze
Symbol: SPRR2E
Name: small proline rich protein 2E
RGD ID: 1354484
HGNC Page HGNC:11265
Description: A structural constituent of skin epidermis. Involved in peptide cross-linking. Located in cornified envelope and cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: small proline-rich protein 2E; small proline-rich protein II; SPR-2E; SPR-II
RGD Orthologs
Mouse
Rat
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381153,093,135 - 153,094,526 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1153,093,135 - 153,106,184 (-)EnsemblGRCh38hg38GRCh38
GRCh371153,065,611 - 153,067,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361151,332,235 - 151,333,625 (-)NCBINCBI36Build 36hg18NCBI36
Celera1126,136,382 - 126,137,772 (-)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1124,428,704 - 124,430,094 (-)NCBIHuRef
CHM1_11154,461,485 - 154,462,875 (-)NCBICHM1_1
T2T-CHM13v2.01152,229,947 - 152,231,338 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
cornified envelope  (IDA,IEA,TAS)
cytoplasm  (IDA,IEA)
cytosol  (TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3133554   PMID:7543090   PMID:8325635   PMID:9722562   PMID:9888996   PMID:10737800   PMID:11279051   PMID:11329013   PMID:12477932   PMID:15232223   PMID:16344560   PMID:16710414  
PMID:18643845   PMID:20360068   PMID:21873635   PMID:24366813   PMID:24657165   PMID:24981860   PMID:27705803   PMID:29509190   PMID:31409639   PMID:33961781   PMID:35338135   PMID:35384245  
PMID:35864588   PMID:36057605   PMID:36736316   PMID:37249651  


Genomics

Comparative Map Data
SPRR2E
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381153,093,135 - 153,094,526 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1153,093,135 - 153,106,184 (-)EnsemblGRCh38hg38GRCh38
GRCh371153,065,611 - 153,067,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361151,332,235 - 151,333,625 (-)NCBINCBI36Build 36hg18NCBI36
Celera1126,136,382 - 126,137,772 (-)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1124,428,704 - 124,430,094 (-)NCBIHuRef
CHM1_11154,461,485 - 154,462,875 (-)NCBICHM1_1
T2T-CHM13v2.01152,229,947 - 152,231,338 (-)NCBIT2T-CHM13v2.0
Sprr2e
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39392,259,450 - 92,260,757 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl392,259,450 - 92,260,756 (+)EnsemblGRCm39 Ensembl
GRCm38392,352,143 - 92,353,449 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl392,352,143 - 92,353,449 (+)EnsemblGRCm38mm10GRCm38
MGSCv37392,156,065 - 92,157,371 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36392,437,546 - 92,438,852 (+)NCBIMGSCv36mm8
Celera394,729,188 - 94,730,494 (-)NCBICelera
Cytogenetic Map3F1NCBI
cM Map340.14NCBI
Sprr2a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82180,415,180 - 180,415,485 (+)NCBIGRCr8
mRatBN7.22177,719,576 - 177,719,845 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2177,719,576 - 177,719,845 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.02192,147,229 - 192,148,625 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2192,147,998 - 192,148,267 (+)EnsemblRnor6.0rn6Rnor6.0
Celera2172,525,572 - 172,526,968 (-)NCBICelera
Cytogenetic Map2q34NCBI
LOC110255231
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1496,557,801 - 96,559,486 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1

Variants

.
Variants in SPRR2E
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.3(chr1:152951169-153495655)x3 copy number gain See cases [RCV000136561] Chr1:152951169..153495655 [GRCh38]
Chr1:152923645..153468131 [GRCh37]
Chr1:151190269..151734755 [NCBI36]
Chr1:1q21.3		 uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 copy number gain not provided [RCV000684655] Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.3(chr1:153061323-153904594)x3 copy number gain not provided [RCV001005141] Chr1:153061323..153904594 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.3(chr1:153007105-153463223)x3 copy number gain not provided [RCV001258470] Chr1:153007105..153463223 [GRCh37]
Chr1:1q21.3		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1		 uncertain significance
GRCh37/hg19 1q21.3(chr1:152648864-153286218)x3 copy number gain not provided [RCV002475654] Chr1:152648864..153286218 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
NM_001024209.4(SPRR2E):c.148T>C (p.Cys50Arg) single nucleotide variant not specified [RCV004336686] Chr1:153093604 [GRCh38]
Chr1:153066080 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.3(chr1:152976928-153106311)x1 copy number loss not provided [RCV003483394] Chr1:152976928..153106311 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NM_001024209.4(SPRR2E):c.89C>T (p.Pro30Leu) single nucleotide variant not specified [RCV004465281] Chr1:153093663 [GRCh38]
Chr1:153066139 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001024209.4(SPRR2E):c.94T>G (p.Cys32Gly) single nucleotide variant not specified [RCV004465282] Chr1:153093658 [GRCh38]
Chr1:153066134 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001024209.4(SPRR2E):c.83C>A (p.Pro28Gln) single nucleotide variant not specified [RCV004465280] Chr1:153093669 [GRCh38]
Chr1:153066145 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001024209.4(SPRR2E):c.208A>G (p.Lys70Glu) single nucleotide variant not specified [RCV004465279] Chr1:153093544 [GRCh38]
Chr1:153066020 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001024209.4(SPRR2E):c.170T>A (p.Val57Glu) single nucleotide variant not specified [RCV004675161] Chr1:153093582 [GRCh38]
Chr1:153066058 [GRCh37]
Chr1:1q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:370
Count of miRNA genes:176
Interacting mature miRNAs:180
Transcripts:ENST00000368750, ENST00000368751
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human

Markers in Region
SHGC-35293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,065,769 - 153,065,968UniSTSGRCh37
Build 361151,332,393 - 151,332,592RGDNCBI36
Celera1126,136,540 - 126,136,739RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1124,428,862 - 124,429,061UniSTS
TNG Radiation Hybrid Map168556.0UniSTS
GeneMap99-GB4 RH Map1542.98UniSTS
GeneMap99-GB4 RH Map1552.19UniSTS
Whitehead-RH Map1638.0UniSTS
NCBI RH Map11025.9UniSTS
RH17673  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21-q22UniSTS
GeneMap99-GB4 RH Map1553.58UniSTS
NCBI RH Map11256.8UniSTS
RH71351  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21-q22UniSTS
GeneMap99-GB4 RH Map1553.58UniSTS
NCBI RH Map11352.9UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1094 2041 2524 1917 3692 1241 1612 1 371 1037 216 1949 5144 5019 7 2666 497 1436 1174 167

Sequence


Ensembl Acc Id: ENST00000368750   ⟹   ENSP00000357739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1153,093,135 - 153,094,526 (-)Ensembl
Ensembl Acc Id: ENST00000368751   ⟹   ENSP00000357740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1153,093,135 - 153,106,184 (-)Ensembl
RefSeq Acc Id: NM_001024209   ⟹   NP_001019380
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,093,135 - 153,094,526 (-)NCBI
GRCh371153,065,611 - 153,067,001 (-)RGD
Build 361151,332,235 - 151,333,625 (-)NCBI Archive
Celera1126,136,382 - 126,137,772 (-)RGD
HuRef1124,428,704 - 124,430,094 (-)RGD
CHM1_11154,461,485 - 154,462,878 (-)NCBI
T2T-CHM13v2.01152,229,947 - 152,231,338 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001019380 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36639 (Get FASTA)   NCBI Sequence Viewer  
  AAK70942 (Get FASTA)   NCBI Sequence Viewer  
  EAW53344 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000357739
  ENSP00000357739.3
  ENSP00000357740.1
GenBank Protein P22531 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001019380   ⟸   NM_001024209
- UniProtKB: Q5T9T4 (UniProtKB/Swiss-Prot),   Q96RM2 (UniProtKB/Swiss-Prot),   P22531 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000357740   ⟸   ENST00000368751
Ensembl Acc Id: ENSP00000357739   ⟸   ENST00000368750

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22531-F1-model_v2 AlphaFold P22531 1-72 view protein structure

Promoters
RGD ID:6857168
Promoter ID:EPDNEW_H1749
Type:multiple initiation site
Name:SPRR2E_1
Description:small proline rich protein 2E
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1750  EPDNEW_H1751  EPDNEW_H1752  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,094,525 - 153,094,585EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11265 AgrOrtholog
COSMIC SPRR2E COSMIC
Ensembl Genes ENSG00000203785 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368750 ENTREZGENE
  ENST00000368750.8 UniProtKB/Swiss-Prot
  ENST00000368751.1 UniProtKB/Swiss-Prot
GTEx ENSG00000203785 GTEx
HGNC ID HGNC:11265 ENTREZGENE
Human Proteome Map SPRR2E Human Proteome Map
InterPro SPRR2 UniProtKB/Swiss-Prot
KEGG Report hsa:6704 UniProtKB/Swiss-Prot
NCBI Gene 6704 ENTREZGENE
OMIM 617588 OMIM
Pfam SPRR2 UniProtKB/Swiss-Prot
PharmGKB PA36094 PharmGKB
PRINTS PRICHEXTENSN UniProtKB/Swiss-Prot
  PRORICH UniProtKB/Swiss-Prot
UniProt P22531 ENTREZGENE
  Q5T9T4 ENTREZGENE
  Q96RM2 ENTREZGENE
  SPR2E_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5T9T4 UniProtKB/Swiss-Prot
  Q96RM2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 SPRR2E  small proline rich protein 2E    small proline-rich protein 2E  Symbol and/or name change 5135510 APPROVED