SPRR2F small proline rich protein 2F [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPRR2Fprovided by HGNC
Official Full Name: small proline rich protein 2Fprovided by HGNC
Primary source: HGNC:HGNC:11266
See related: Ensembl:ENSG00000244094 MIM:617589; AllianceGenome:HGNC:11266
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 nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in esophagus (RPKM 38.5) and ovary (RPKM 21.7) See more
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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 (153112121..153119468, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152248934..152256280, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153084597..153091944, 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPRR2F expression is significantly downregulated in healthy palatal mucosa of smokers
Title: Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.
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.

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of small proline-rich protein 2F (SPRR2F) in peptide-treated PBMCs	PubMed

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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

NoName (e-PCR)
- UniSTS:483919

RH71351 (e-PCR)
- UniSTS:24460

RH18104 (e-PCR)
- UniSTS:12025

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 2F

Names: SPR-2F

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.