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    SPPL2A signal peptide peptidase like 2A [ Homo sapiens (human) ]

    Gene ID: 84888, updated on 27-Nov-2024

    Summary

    Official Symbol
    SPPL2Aprovided by HGNC
    Official Full Name
    signal peptide peptidase like 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:30227
    See related
    Ensembl:ENSG00000138600 MIM:608238; AllianceGenome:HGNC:30227
    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
    Also known as
    IMP3; PSL2; IMD86
    Summary
    This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in colon (RPKM 15.8), duodenum (RPKM 10.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SPPL2A in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (50702266..50765706, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (48509322..48573674, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50994463..51057903, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene transient receptor potential cation channel subfamily M member 7 Neighboring gene uncharacterized LOC128092252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:50969254-50969754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:50969755-50970255 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:50978082-50978946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9397 Neighboring gene RNA, 7SL, cytoplasmic 354, pseudogene Neighboring gene MPRA-validated peak2334 silencer Neighboring gene HNF4 motif-containing MPRA enhancer 243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6430 Neighboring gene Sharpr-MPRA regulatory region 3374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:51104171-51104690 Neighboring gene ribosomal protein L32 pseudogene 30 Neighboring gene uncharacterized LOC124903490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9398

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Immunodeficiency 86
    MedGen: C5561995 OMIM: 619549 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    General protein information

    Preferred Names
    signal peptide peptidase-like 2A
    Names
    IMP-3
    SPP-like 2A
    intramembrane cleaving protease
    intramembrane protease 3
    presenilin-like protein 2
    NP_116191.2
    XP_005254779.1
    XP_016878169.1
    XP_016878170.1
    XP_054234976.1
    XP_054234977.1
    XP_054234978.1
    XP_054234979.1

    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.

    mRNA and Protein(s)

    1. NM_032802.4NP_116191.2  signal peptide peptidase-like 2A precursor

      See identical proteins and their annotated locations for NP_116191.2

      Status: REVIEWED

      Source sequence(s)
      AA988423, AC012100, AK027446, AY169314
      Consensus CDS
      CCDS10138.1
      UniProtKB/Swiss-Prot
      B2RDS0, Q8TAW1, Q8TCT8, Q96SZ8
      UniProtKB/TrEMBL
      A0A8V8TN76
      Related
      ENSP00000261854.5, ENST00000261854.10
      Conserved Domains (2) summary
      cd02129
      Location:41160
      PA_hSPPL_like; PA_hSPPL_like: Protease-associated domain containing human signal peptide peptidase-like (hSPPL)-like. This group contains various PA domain-containing proteins similar to hSPPL2a and 2b. These SPPLs are GxGD aspartic proteases. SPPL2a is sorted to the ...
      pfam04258
      Location:210496
      Peptidase_A22B; Signal peptide peptidase

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      50702266..50765706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022681.2XP_016878170.1  signal peptide peptidase-like 2A isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY7, A0A8V8TLZ2
      Related
      ENSP00000513581.1, ENST00000698135.1
    2. XM_017022680.2XP_016878169.1  signal peptide peptidase-like 2A isoform X2

      UniProtKB/TrEMBL
      A0A8V8TLY7
    3. XM_005254722.4XP_005254779.1  signal peptide peptidase-like 2A isoform X1

      UniProtKB/TrEMBL
      A0A8V8TN76
      Conserved Domains (2) summary
      cd02129
      Location:41160
      PA_hSPPL_like; PA_hSPPL_like: Protease-associated domain containing human signal peptide peptidase-like (hSPPL)-like. This group contains various PA domain-containing proteins similar to hSPPL2a and 2b. These SPPLs are GxGD aspartic proteases. SPPL2a is sorted to the ...
      pfam04258
      Location:210514
      Peptidase_A22B; Signal peptide peptidase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      48509322..48573674 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379002.1XP_054234977.1  signal peptide peptidase-like 2A isoform X4

      UniProtKB/Swiss-Prot
      B2RDS0, Q8TAW1, Q8TCT8, Q96SZ8
    2. XM_054379001.1XP_054234976.1  signal peptide peptidase-like 2A isoform X1

    3. XM_054379004.1XP_054234979.1  signal peptide peptidase-like 2A isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLZ2
    4. XM_054379003.1XP_054234978.1  signal peptide peptidase-like 2A isoform X2