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    SPATA2 spermatogenesis associated 2 [ Homo sapiens (human) ]

    Gene ID: 9825, updated on 3-Dec-2024

    Summary

    Official Symbol
    SPATA2provided by HGNC
    Official Full Name
    spermatogenesis associated 2provided by HGNC
    Primary source
    HGNC:HGNC:14681
    See related
    Ensembl:ENSG00000158480 MIM:607662; AllianceGenome:HGNC:14681
    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
    Also known as
    PD1; tamo; PPP1R145
    Summary
    Enables signaling receptor complex adaptor activity and ubiquitin-specific protease binding activity. Involved in several processes, including protein deubiquitination; regulation of necroptotic process; and regulation of tumor necrosis factor-mediated signaling pathway. Located in cytoplasm; fibrillar center; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 8.7), brain (RPKM 8.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SPATA2 in Genome Data Viewer
    Location:
    20q13.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (49903391..49915529, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (51672830..51685863, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (48519928..48532066, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 9 member A8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:48452608-48453108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:48453109-48453609 Neighboring gene GLYR1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18076 Neighboring gene microRNA 12122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48504605-48505416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48505417-48506228 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60689 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60693 Neighboring gene Sharpr-MPRA regulatory region 10189 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18077 Neighboring gene uncharacterized LOC105372653 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60723 Neighboring gene Sharpr-MPRA regulatory region 9917 Neighboring gene MPRA-validated peak4247 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13007 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48552583-48553188 Neighboring gene Sharpr-MPRA regulatory region 103 Neighboring gene Sharpr-MPRA regulatory region 7979 Neighboring gene Sharpr-MPRA regulatory region 5689 Neighboring gene small nucleolar RNA U13 Neighboring gene ring finger protein 114

    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

    EBI GWAS Catalog

    Description
    Genome-wide association analysis identifies three psoriasis susceptibility loci.
    EBI GWAS Catalog
    Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13167, KIAA0757

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor complex adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor complex adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin-specific protease binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    spermatogenesis-associated protein 2
    Names
    protein phosphatase 1, regulatory subunit 145
    spermatogenesis associated PD1
    spermatogenesis-associated protein PD1

    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_001135773.2NP_001129245.1  spermatogenesis-associated protein 2

      See identical proteins and their annotated locations for NP_001129245.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon, as compared to variant 1.
      Source sequence(s)
      AK289644, AL031685, BC009481, N62318
      Consensus CDS
      CCDS13422.1
      UniProtKB/Swiss-Prot
      E1P626, O94857, Q9UM82
      UniProtKB/TrEMBL
      A8K0S9
      Related
      ENSP00000416799.1, ENST00000422556.1
      Conserved Domains (2) summary
      cl15262
      Location:88176
      PUB; PNGase/UBA or UBX (PUB) domain of p97 adaptor proteins
      cl22851
      Location:459511
      PHD_SF; PHD finger superfamily
    2. NM_006038.4NP_006029.1  spermatogenesis-associated protein 2

      See identical proteins and their annotated locations for NP_006029.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same protein.
      Source sequence(s)
      AK295536, AL031685, BC009481, N62318
      Consensus CDS
      CCDS13422.1
      UniProtKB/Swiss-Prot
      E1P626, O94857, Q9UM82
      UniProtKB/TrEMBL
      A8K0S9
      Related
      ENSP00000289431.5, ENST00000289431.10
      Conserved Domains (2) summary
      cl15262
      Location:88176
      PUB; PNGase/UBA or UBX (PUB) domain of p97 adaptor proteins
      cl22851
      Location:459511
      PHD_SF; PHD finger superfamily

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      49903391..49915529 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723894.2XP_006723957.1  spermatogenesis-associated protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006723957.1

      UniProtKB/Swiss-Prot
      E1P626, O94857, Q9UM82
      UniProtKB/TrEMBL
      A8K0S9
      Conserved Domains (2) summary
      cl15262
      Location:88176
      PUB; PNGase/UBA or UBX (PUB) domain of p97 adaptor proteins
      cl22851
      Location:459511
      PHD_SF; PHD finger superfamily
    2. XM_047440624.1XP_047296580.1  spermatogenesis-associated protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E1P626, O94857, Q9UM82
      UniProtKB/TrEMBL
      A8K0S9
    3. XM_047440623.1XP_047296579.1  spermatogenesis-associated protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E1P626, O94857, Q9UM82
      UniProtKB/TrEMBL
      A8K0S9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      51672830..51685863 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324293.1XP_054180268.1  spermatogenesis-associated protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E1P626, O94857, Q9UM82
      UniProtKB/TrEMBL
      A8K0S9
    2. XM_054324295.1XP_054180270.1  spermatogenesis-associated protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E1P626, O94857, Q9UM82
      UniProtKB/TrEMBL
      A8K0S9
    3. XM_054324294.1XP_054180269.1  spermatogenesis-associated protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E1P626, O94857, Q9UM82
      UniProtKB/TrEMBL
      A8K0S9