SPRR2B small proline rich protein 2B [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPRR2Bprovided by HGNC
Official Full Name: small proline rich protein 2Bprovided by HGNC
Primary source: HGNC:HGNC:11262
See related: Ensembl:ENSG00000196805 MIM:182268; AllianceGenome:HGNC:11262
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to be involved in keratinization. Predicted to act upstream of or within response to estradiol. Predicted to be located in cornified envelope and cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward esophagus (RPKM 318.4) See more
Orthologs: all
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Genomic context

Location:: 1q21.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153070226..153087799, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152206987..152208372, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153042702..153044087, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of the Sprr2b gene or inhibition of SPRR2B phosphorylation attenuates USP7/MDM2 binding and p53 degradation, leading to fibroblasts cell cycle arrest.
Title: Small proline-rich protein 2B drives stress-dependent p53 degradation and fibroblast proliferation in heart failure.
An SNP in SPRR2B was predictive of asthma among white children with eczema from 2 independent populations.
Title: Genetic variation in small proline rich protein 2B as a predictor for asthma among children with eczema.
We showed that just four genes, G3BP2, SCARB2, CSNK1A1 and SPRR2B, can classify patients as presence of lymph node metastasis negative or positive, with 80.0% accuracy.
Title: Four-gene expression model predictive of lymph node metastases in oral squamous cell carcinoma.
Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families.
Title: Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families.
SPR2B transcripts and protein were moderately increased in the human papillomaviurs 11- and 59-infected tissues.
Title: Infection with Human Papillomavirus alters expression of the small proline rich proteins 2 and 3.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17673 (e-PCR)
- UniSTS:6678

NoName (e-PCR)
- UniSTS:483391

RH71351 (e-PCR)
- UniSTS:24460

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in epidermis development	NAS Non-traceable Author Statement more info	PubMed
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cornified envelope	NAS Non-traceable Author Statement more info	PubMed
located_in cornified envelope	TAS Traceable Author Statement more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: small proline-rich protein 2B

Names: SPR-2B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.