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    SPRR2E small proline rich protein 2E [ Homo sapiens (human) ]

    Gene ID: 6704, updated on 27-Nov-2024

    Summary

    Official Symbol
    SPRR2Eprovided by HGNC
    Official Full Name
    small proline rich protein 2Eprovided by HGNC
    Primary source
    HGNC:HGNC:11265
    See related
    Ensembl:ENSG00000203785 MIM:617588; AllianceGenome:HGNC:11265
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along with other family members, is a component of the cornified cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia. This envelope serves as a barrier against extracellular and environmental factors. The seven SPRR2 genes (A-G) appear to have been homogenized by gene conversion compared to others in the cluster that exhibit greater differences in protein structure. [provided by RefSeq, Feb 2014]
    Expression
    Restricted expression toward esophagus (RPKM 706.9) See more
    Orthologs
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    Genomic context

    See SPRR2E in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (153093135..153094526, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (152229947..152231338, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153065611..153067002, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small proline rich protein 2A Neighboring gene small proline rich protein 2B Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:153072092-153073291 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)

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of skin epidermis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables structural molecule activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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 peptide cross-linking IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cornified envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    small proline-rich protein 2E
    Names
    SPR-2E
    SPR-II
    small proline-rich protein II

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_033987.1 RefSeqGene

      Range
      5003..6394
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001024209.4NP_001019380.2  small proline-rich protein 2E

      See identical proteins and their annotated locations for NP_001019380.2

      Status: REVIEWED

      Source sequence(s)
      BE714447, BG185829, DA761491, DA761769
      Consensus CDS
      CCDS30866.1
      UniProtKB/Swiss-Prot
      P22531, Q5T9T4, Q96RM2
      Related
      ENSP00000357739.3, ENST00000368750.8

    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
      153093135..153094526 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      152229947..152231338 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)