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SPRR2B Gene

protein-coding GIFtS: 41
GCID: GC01M153029

Small Proline-Rich Protein 2B

See SPRR2B-related disease
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, GeneCards, 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 oral squamous cell carcinoma. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000001.10 NC_018912.2 NT_004487.20

Regulatory elements:

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

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Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
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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

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:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See SPRR2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001017418.1

ENSEMBL proteins:

ENSP00000357744 ENSP00000340703 ENSP00000357741

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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

Find genes that share domains with SPRR2B About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

SPR2B_HUMAN, P35325: Cytoplasm

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	5
cytosol	2
extracellular	2

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

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

Find genes that share ontologies with SPRR2B About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to 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 GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

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Interactions:

Search GeneGlobe Interaction Network for SPRR2B

Gene Ontology (GO): 3 biological process terms: 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	--

Find genes that share ontologies with SPRR2B About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

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(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
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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

Selected AceView cDNA sequences (see all 87):

AW238280 AI860616 BG183546 AI276842 BG185626 BV203384 BE182189 BG187580

BG201115 BV199889 BV199888 AW780258 BG220895 BG218533 BV199887 BG197467

BV199891 AW470486 BG192407 NM_006945 AI432162 BG214712 AW572396 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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SPRR2B expression in normal human tissues (normalized intensities)
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
selected tissues (see all 2) fully expand


Lung (Respiratory System)
Basal Cells Respiratory Bronchioles

Tonsil (Hematopoietic System)

SPRR2B Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

SPRR2B Protein Expression

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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(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

This gene was present in the common ancestor of human and chimp.

Orthologs for SPRR2B gene from 1 species (see representative species ) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chimpanzee (Pan troglodytes)	Mammalia	SPRR2B⁶	small proline-rich protein 2B	100(a)	1 ↔ 1	1(131295599-131296962)

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,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for SPRR2B gene

SPRR2A²

Find genes that share paralogs with SPRR2B About GenesLikeMe

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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
				--	--	--		--	--
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
rs371939310^1,2	C	--	159544474(+)	`ATCCTC/TTCATG`	1	--	ut3¹		0	--	--	--	--

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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 182268 OMIM disorders: --

1 disease for SPRR2B:
About MalaCards

oral squamous cell carcinoma

Find genes that share disorders with SPRR2B About GenesLikeMe

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 10 sources (see all 13):
(articles sorted by number of sources associating them with SPRR2B)

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. (Genomics 1993)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (Nature 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. (J. Biol. Chem. 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. (J. Med. Virol. 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. (amp 2012)
Four-gene expression model predictive of lymph node metastases in oral squamous cell carcinoma. (PubMed id 21985131)¹ Pasini F.S....Federico M.H. (Acta Oncol 2012)
Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)¹ Hutchins J.R.... Peters J.M. (Science 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. (Exp. Dermatol. 2009)
Expression and regulation of cornified envelope proteins in human corneal epithelium. (PubMed id 16639001)¹ Tong L....Pflugfelder S.C. (amp 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. (Mol. Cells 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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and 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

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Advanced Cell Diagnostics, Animal models from genOway)
About This Section


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SPRR2B Gene

Small Proline-Rich Protein 2B

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GeneCards Suite

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Export list of displayed genes

SPRR2B Gene

Small Proline-Rich Protein 2B

Aliasesfor SPRR2B gene

Summariesfor SPRR2B gene

Genomic Viewsfor SPRR2B gene

Proteinsfor SPRR2B gene

SPRR2B Human Recombinant Protein Products:

SPRR2B Antibody Products:

SPRR2B Assay Products:

Domains /Familiesfor SPRR2B gene

Functionfor SPRR2B gene

Localizationfor SPRR2B gene

Pathways & Interactionsfor SPRR2B gene

Drugs & Compoundsfor SPRR2B gene

Transcriptsfor SPRR2B gene

Expression for SPRR2B gene

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Disorders / Diseasesfor SPRR2B gene

Publicationsfor SPRR2B gene

External Searches for SPRR2B gene

Genome Databases showing SPRR2B gene

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Specialized Databases showing SPRR2B gene

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for SPRR2B gene

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for SPRR2B gene

Genomic Views
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

Pathways & Interactions
for SPRR2B gene

Drugs & Compounds
for SPRR2B gene

Transcripts
for SPRR2B gene

Expression
for SPRR2B gene

Orthologs
for SPRR2B gene

Paralogs
for SPRR2B gene

Genomic Variants
for SPRR2B gene

Disorders / Diseases
for SPRR2B gene

Publications
for SPRR2B gene

Intellectual Property
for SPRR2B gene

Products
for SPRR2B gene