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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SPRR2B Gene

protein-coding GIFtS: 41
GCID: GC01M153029

Small Proline-Rich Protein 2B

5 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Small Proline-Rich Protein 2B¹ ²
SPR-2B² ³

External Ids:	HGNC: 11262¹	Entrez Gene: 6701²	Ensembl: ENSG00000196805⁷	OMIM: 182268⁵	UniProtKB: P35325³

Export aliases for SPRR2B gene to outside databases

Previous GC identifers: GC01M150859 GC01M148825 GC01M149818 GC01M150259 GC01M149825 GC01M151278 GC01M151309 GC01M124405

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SPRR2B Gene:

SPRR2B (small proline-rich protein 2B) is a protein-coding gene. Diseases associated with SPRR2B include eczema, and psoriasis. An important paralog of this gene is SPRR2A.

UniProtKB/Swiss-Prot: SPR2B_HUMAN, P35325

Function: Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell

cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the

formation of an insoluble envelope beneath the plasma membrane

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.2 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SPRR2B gene promoter:
C/EBPbeta POU2F1 Nkx6-1 p53 POU2F1b POU2F1a c-Myb POU2F1c RORalpha2
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPRR2B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21-q22 Ensembl cytogenetic band: 1q21.3 HGNC cytogenetic band: 1q21-q22

SPRR2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPRR2B gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M153029: view genomic region (about GC identifiers)

Start:	153,042,700 bp from pter	End:	153,113,927 bp from pter
Size:	71,228 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
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About This Section

UniProtKB/Swiss-Prot: SPR2B_HUMAN, P35325 (See protein sequence)

Recommended Name: Small proline-rich protein 2B

Size: 72 amino acids; 7975 Da

Subcellular location: Cytoplasm

Developmental stage: Expressed during differentiation of squamous cells

Secondary accessions: Q5T528

Explore the universe of human proteins at neXtProt for SPRR2B: NX_P35325

Explore proteomics data for SPRR2B at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P35325

SPRR2B Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_001017418.1

ENSEMBL proteins:

ENSP00000357744 ENSP00000340703 ENSP00000357741

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001533	cornified envelope	NAS	8325635
GO:0005737	cytoplasm	NAS	--

SPRR2B for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

1 InterPro protein domain:

IPR026075 SPRR/LCE

Graphical View of Domain Structure for InterPro Entry P35325

ProtoNet protein and cluster: P35325

1 Blocks protein domain: IPB003267 Small proline-rich protein signature

UniProtKB/Swiss-Prot: SPR2B_HUMAN, P35325

Similarity: Belongs to the cornifin (SPRR) family

SPRR2B for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SPR2B_HUMAN, P35325

Function: Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell

cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the

formation of an insoluble envelope beneath the plasma membrane

Induction: By UV irradiation and carcinogenic agents. During squamous differentiation of epidermal keratinocytes

Genatlas biochemistry entry for SPRR2B:

small proline rich protein 2B,precursor of cornified cell envelope,cornifin,clustered in the epidermal differentiation

complex (EDC)

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SPRR2B

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008544	epidermis development	NAS	8325635
GO:0030216	keratinocyte differentiation	NAS	8325635
GO:0031424	keratinization	IEA	--

SPRR2B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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Search CenterWatch for drugs/clinical trials and news about SPRR2B / SPR2B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for SPRR2B gene:

NM_001017418.1

Unigene Cluster for SPRR2B:

Small proline-rich protein 2B

Hs.568239 [show with all ESTs]

Unigene Representative Sequence: BG205263

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000368755 ENST00000341611(uc001fbg.3) ENST00000368752(uc001fbj.3)

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2 DOTS entries:

DT.91674741 DT.91758274

24/87 AceView cDNA sequences (see all 87):

AW238280 BG183546 AI860616 BV199889 BG197467 BV199887 BG220895 BV203384

AW780258 BG218533 BG187580 BG201115 AI276842 BE182189 BV199888 BV199891

BG185626 BG192407 NM_006945 AI432162 BE932422 M21302 BG214712 BG194482

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SPRR2B expression in normal human tissues (normalized intensities) SPRR2B embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

SPRR2B expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/1 selected tissues (see all 1) fully expand


Lung (Respiratory System)
Basal Cells Respiratory Bronchioles

See SPRR2B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPRR2B

SOURCE GeneReport for Unigene cluster: Hs.568239

UniProtKB/Swiss-Prot: SPR2B_HUMAN, P35325

Tissue specificity: Suprabasal layers of squamous-differentiated tissues such as epidermis, esophagus, tongue and

trachea

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

--

ENSEMBL Gene Tree for SPRR2B (if available)
TreeFam Gene Tree for SPRR2B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SPRR2B gene

SPRR2A²

SPRR2B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_034518⁴		--	--	see VAR_034518	2	P S	mis⁴		0	--	--	--	--
rs79584867^1,2	F	--	159543718(+)	`GGAAAC/TGATGA`	1	--	ds500¹		1		WA	118
rs310102^1,2	C,F,A,H	--	159543828(-)	`AAATAG/ATCTAA`	1	--	ds500¹		12		NA WA CSA EA	374
rs71918470^1,2	C	--	159543874(+)	`AAAAG-/ATAGACA`	1	--	ds500¹		0	--	--	--	--
rs72477402^1,2		--	159543875(+)	`AAAGAG/TAGACA`	1	--	ds500¹		0	--	--	--	--
rs310103^1,2	C,F,A,H	--	159543959(+)	`CAGAAA/CTAATA`	1	--	ds500¹		18		NS EA NA WA CSA	966
rs2275301^1,2	C,F,H	--	159544197(+)	`ACACAG/CAACAC`	1	--	ut3¹		6		EA NS	2018
rs180980083^1,2		--	159544244(+)	`CTGCAA/GCTCTT`	1	--	ut3¹		0	--	--	--	--
rs117850648^1,2	C,F	--	159544317(+)	`TGGCAG/ATATGG`	1	--	ut3¹		1		EA	120
rs112227433^1,2	C	--	159544378(+)	`ACAGG-/CTAAGG`	1	--	ut3¹		1		CSA	2

HapMap Linkage Disequilibrium report for SPRR2B (153042700 - 153113927 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for SPRR2B: About this table

Variant ID	Type	Subtype	PubMed ID
esv2718239	CNV	Deletion	23290073
nsv464017	CNV	Loss	19166990

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SPRR2B for disorders           About GeneDecksing

OMIM gene information: 182268    OMIM disorders: --

5 diseases for SPRR2B:    About MalaCards

eczema psoriasis oral squamous cell carcinoma asthma

squamous cell carcinoma

Export disorders for SPRR2B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SPRR2B gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with SPRR2B)

Utopia: connect your pdf to the dynamic
world of online information

Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins. (PubMed id 8325635)^{1, 2, 3} Gibbs S.... Backendorf C. (1993)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
Structural organization and regulation of the small proline-rich family of cornified envelope precursors suggest a role in adaptive barrier function. (PubMed id 11279051)^{1, 2} Cabral A....Backendorf C. (2001)
Infection with Human Papillomavirus alters expression of the small proline rich proteins 2 and 3. (PubMed id 14748073)^{1, 9} Lehr E....Brown D. (2004)
Genetic variation in small proline rich protein 2B as a predictor for asthma among children with eczema. (PubMed id 22374195)¹ Epstein T.G....Khurana Hershey G.K. (2012)
Four-gene expression model predictive of lymph node me tastases in oral squamous cell carcinoma. (PubMed id 21985131)¹ Pasini F.S....Federico M.H. (2012)
Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)¹ Hutchins J.R....Peters J.M. (2010)
Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families. (PubMed id 18643845)¹ Kainu K....Saarialho-Kere U. (2009)
Expression and regulation of cornified envelope proteins in human corneal epithelium. (PubMed id 16639001)¹ Tong L....Pflugfelder S.C. (2006)
Estrogen regulates the expression of the small proline-rich 2 gene family in the mouse uterus. (PubMed id 15232223)¹ Hong S.H....Kim M.K. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6701	HGNC: 11262	AceView: SPRR2B	Ensembl:ENSG00000196805	euGenes: HUgn6701
ECgene: SPRR2B	H-InvDB: SPRR2B

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SPRR2B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SPRR2B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SPRR2B gene:
Search GeneIP for patents involving SPRR2B

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes SPRR2B gene at Home site.

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SPRR2B Gene

Small Proline-Rich Protein 2B

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SPRR2B Gene

Small Proline-Rich Protein 2B

Aliasesfor SPRR2B gene

Summariesfor SPRR2B gene

Genomic Viewsfor SPRR2B gene

Proteinsfor SPRR2B gene

Protein Domains /Familiesfor SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene