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

    Gene ID: 6706, updated on 7-Apr-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 be located in cornified envelope and cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    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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    Location:
    1q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (153149582..153203278, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (152286400..152339804, complement)
    105.20220307 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
    • 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 (15) 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_2023_10

    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

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