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SPRR2G small proline rich protein 2G [ Homo sapiens (human) ]

Gene ID: 6706, updated on 2-Nov-2024

Summary

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Official Symbol
SPRR2Gprovided by HGNC
Official Full Name
small proline rich protein 2Gprovided by HGNC
Primary source
HGNC:HGNC:11267
See related
Ensembl:ENSG00000159516 MIM:617590; AllianceGenome:HGNC:11267
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, Nov 2024]
Expression
Biased expression in esophagus (RPKM 33.8) and skin (RPKM 27.5) See more
Orthologs
all
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Genomic context

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See SPRR2G in Genome Data Viewer
Location:
1q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (153149582..153203278, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (152286400..152339804, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153122058..153123366, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small proline rich protein 2F Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:153095261-153096004 Neighboring gene NANOG hESC enhancer GRCh37_chr1:153107702-153108203 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:153112641-153113840 Neighboring gene small proline rich protein 2C (pseudogene) Neighboring gene uncharacterized LOC101928009 Neighboring gene late cornified envelope like proline rich 1 Neighboring gene proline rich 9

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Genomic aberration patterns and expression profiles of squamous cell carcinomas of the vulva. Micci F, et al. Genes Chromosomes Cancer, 2013 Jun. PMID 23404381
  2. Structural organization and regulation of the small proline-rich family of cornified envelope precursors suggest a role in adaptive barrier function. Cabral A, et al. J Biol Chem, 2001 Jun 1. PMID 11279051
  3. Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families. Kainu K, et al. Exp Dermatol, 2009 Feb. PMID 18643845
  4. Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins. Gibbs S, et al. Genomics, 1993 Jun. PMID 8325635
  5. Estrogen regulates the expression of the small proline-rich 2 gene family in the mouse uterus. Hong SH, et al. Mol Cells, 2004 Jun 30. PMID 15232223

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. High SPRR2G expression is associated with squamous cell carcinomas of the vulva.
    Title: Genomic aberration patterns and expression profiles of squamous cell carcinomas of the vulva.
  2. 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.
Submit: New GeneRIF Correction

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 2G
Names
SPR-2G

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.

mRNA and Protein(s)

  1. NM_001014291.4 → NP_001014313.1  small proline-rich protein 2G

    See identical proteins and their annotated locations for NP_001014313.1

    Status: VALIDATED

    Source sequence(s)
    AL157405, BC133041
    Consensus CDS
    CCDS30868.1
    UniProtKB/Swiss-Prot
    Q9BYE4
    Related
    ENSP00000357737.4, ENST00000368748.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    153149582..153203278 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002177.2 → XP_016857666.1  small proline-rich protein 2G isoform X1

    UniProtKB/Swiss-Prot
    Q9BYE4

  2. XM_017002178.2 → XP_016857667.1  small proline-rich protein 2G isoform X1

    UniProtKB/Swiss-Prot
    Q9BYE4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    152286400..152339804 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338463.1 → XP_054194438.1  small proline-rich protein 2G isoform X1

    UniProtKB/Swiss-Prot
    Q9BYE4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYE4.1 GenPept UniProtKB/Swiss-Prot:Q9BYE4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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