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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)

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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.

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)