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    SPATS2L spermatogenesis associated serine rich 2 like [ Homo sapiens (human) ]

    Gene ID: 26010, updated on 12-Oct-2019

    Summary

    Official Symbol
    SPATS2Lprovided by HGNC
    Official Full Name
    spermatogenesis associated serine rich 2 likeprovided by HGNC
    Primary source
    HGNC:HGNC:24574
    See related
    Ensembl:ENSG00000196141 MIM:613817
    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
    SGNP; DNAPTP6
    Expression
    Ubiquitous expression in gall bladder (RPKM 14.3), heart (RPKM 9.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See SPATS2L in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (200305879..200482264)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201170604..201346986)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tRNA-yW synthesizing protein 5 Neighboring gene matrix AAA peptidase interacting protein 1 Neighboring gene uncharacterized LOC105373833 Neighboring gene RNY4 pseudogene 34 Neighboring gene uncharacterized LOC107985786 Neighboring gene uncharacterized LOC101927741 Neighboring gene potassium channel tetramerization domain containing 18 Neighboring gene shugoshin 2

    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

    NHGRI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    NHGRI GWA Catalog
    Genome-wide association analysis in asthma subjects identifies SPATS2L as a novel bronchodilator response gene.
    NHGRI GWA Catalog
    Genome-wide association study of exercise behavior in Dutch and American adults.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of discs, large (Drosophila) homolog-associated protein 1 (DLGAP1; LOC26010) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ14138, DKFZp564A2416

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    SPATS2-like protein
    Names
    DNA polymerase-transactivated protein 6
    stress granule and nucleolar protein

    NCBI Reference Sequences (RefSeq)

    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_001100422.1NP_001093892.1  SPATS2-like protein isoform a

      See identical proteins and their annotated locations for NP_001093892.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon, compared to variant 1. Variants 1, 2, 3 and 5 encode the same isoform a.
      Source sequence(s)
      AC012459, AK002064, BC018736, BQ030316, CN480518, DB206952
      Consensus CDS
      CCDS46483.1
      UniProtKB/Swiss-Prot
      Q9NUQ6
      UniProtKB/TrEMBL
      A0A024R3V0
      Related
      ENSP00000386931.3, ENST00000409988.7
      Conserved Domains (1) summary
      pfam07139
      Location:59368
      DUF1387; Protein of unknown function (DUF1387)
    2. NM_001100423.2NP_001093893.1  SPATS2-like protein isoform a

      See identical proteins and their annotated locations for NP_001093893.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR exon, compared to variant 1. Variants 1, 2, 3 and 5 encode the same isoform a.
      Source sequence(s)
      AC012459, AF193059, AL525852, BQ030316, DB454965
      Consensus CDS
      CCDS46483.1
      UniProtKB/Swiss-Prot
      Q9NUQ6
      UniProtKB/TrEMBL
      A0A024R3V0
      Related
      ENSP00000386730.3, ENST00000409140.8
      Conserved Domains (1) summary
      pfam07139
      Location:59368
      DUF1387; Protein of unknown function (DUF1387)
    3. NM_001100424.1NP_001093894.1  SPATS2-like protein isoform b

      See identical proteins and their annotated locations for NP_001093894.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate 5' UTR exon and lacks an in-frame coding exon, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AC012459, BC010848, BQ030316, CN480518, DB206952
      Consensus CDS
      CCDS46484.1
      UniProtKB/Swiss-Prot
      Q9NUQ6
      Related
      ENSP00000353989.5, ENST00000360760.9
      Conserved Domains (1) summary
      pfam07139
      Location:59299
      DUF1387; Protein of unknown function (DUF1387)
    4. NM_001282735.1NP_001269664.1  SPATS2-like protein isoform a

      See identical proteins and their annotated locations for NP_001269664.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has an alternate splice site in the 5' UTR, which results in a longer 5' UTR, compared to variant 1. Variants 1, 2, 3 and 5 encode the same isoform a.
      Source sequence(s)
      AC012459, AK290496, AL110124, BP310992, BQ030316
      Consensus CDS
      CCDS46483.1
      UniProtKB/Swiss-Prot
      Q9NUQ6
      UniProtKB/TrEMBL
      A0A024R3V0
      Related
      ENSP00000386336.1, ENST00000409718.5
      Conserved Domains (1) summary
      pfam07139
      Location:59368
      DUF1387; Protein of unknown function (DUF1387)
    5. NM_001282743.1NP_001269672.1  SPATS2-like protein isoform c

      See identical proteins and their annotated locations for NP_001269672.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has an alternate splice site in the 5' UTR, lacks an internal exon which contains the translation start codon, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC012459, AF193059, AK090867, AK290496, BP310992, BQ030316
      Consensus CDS
      CCDS74622.1
      UniProtKB/Swiss-Prot
      Q9NUQ6
      UniProtKB/TrEMBL
      B8ZZZ7
      Related
      ENSP00000386391.1, ENST00000409385.5
      Conserved Domains (1) summary
      pfam07139
      Location:17308
      DUF1387; Protein of unknown function (DUF1387)
    6. NM_001282744.1NP_001269673.1  SPATS2-like protein isoform d

      See identical proteins and their annotated locations for NP_001269673.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) has an alternate 5' terminal exon which contains an upstream in-frame AUG codon, compared to variant 1. The resulting isoform (d) has a longer N-terminus, compared to isoform a.
      Source sequence(s)
      AC012459, AC074213, AK300075, BQ030316
      Consensus CDS
      CCDS74621.1
      UniProtKB/Swiss-Prot
      Q9NUQ6
      Related
      ENSP00000482515.1, ENST00000619961.4
      Conserved Domains (1) summary
      pfam07139
      Location:89397
      DUF1387; Protein of unknown function (DUF1387)
    7. NM_015535.3NP_056350.2  SPATS2-like protein isoform a

      See identical proteins and their annotated locations for NP_056350.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variants 2, 3 and 5 encode the same isoform (a).
      Source sequence(s)
      AC012459, AC074213, AY450394, BC018736, BP310992, BQ030316
      Consensus CDS
      CCDS46483.1
      UniProtKB/Swiss-Prot
      Q9NUQ6
      UniProtKB/TrEMBL
      A0A024R3V0
      Related
      ENSP00000351503.4, ENST00000358677.9
      Conserved Domains (1) summary
      pfam07139
      Location:59368
      DUF1387; Protein of unknown function (DUF1387)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      200305879..200482264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452788.1XP_024308556.1  SPATS2-like protein isoform X4

      Conserved Domains (1) summary
      pfam07139
      Location:59299
      DUF1387; Protein of unknown function (DUF1387)
    2. XM_011510939.1XP_011509241.1  SPATS2-like protein isoform X2

      See identical proteins and their annotated locations for XP_011509241.1

      UniProtKB/Swiss-Prot
      Q9NUQ6
      UniProtKB/TrEMBL
      A0A024R3V0
      Conserved Domains (1) summary
      pfam07139
      Location:59368
      DUF1387; Protein of unknown function (DUF1387)
    3. XM_005246457.1XP_005246514.1  SPATS2-like protein isoform X2

      See identical proteins and their annotated locations for XP_005246514.1

      UniProtKB/Swiss-Prot
      Q9NUQ6
      UniProtKB/TrEMBL
      A0A024R3V0
      Related
      ENSP00000391467.2, ENST00000451764.6
      Conserved Domains (1) summary
      pfam07139
      Location:59368
      DUF1387; Protein of unknown function (DUF1387)
    4. XM_017003787.1XP_016859276.1  SPATS2-like protein isoform X4

      UniProtKB/Swiss-Prot
      Q9NUQ6
      Conserved Domains (1) summary
      pfam07139
      Location:59299
      DUF1387; Protein of unknown function (DUF1387)
    5. XM_011510938.1XP_011509240.1  SPATS2-like protein isoform X1

      See identical proteins and their annotated locations for XP_011509240.1

      UniProtKB/Swiss-Prot
      Q9NUQ6
      Conserved Domains (1) summary
      pfam07139
      Location:89397
      DUF1387; Protein of unknown function (DUF1387)
    6. XM_005246456.1XP_005246513.1  SPATS2-like protein isoform X2

      See identical proteins and their annotated locations for XP_005246513.1

      UniProtKB/Swiss-Prot
      Q9NUQ6
      UniProtKB/TrEMBL
      A0A024R3V0
      Conserved Domains (1) summary
      pfam07139
      Location:59368
      DUF1387; Protein of unknown function (DUF1387)
    7. XM_017003786.1XP_016859275.1  SPATS2-like protein isoform X4

      UniProtKB/Swiss-Prot
      Q9NUQ6
      Conserved Domains (1) summary
      pfam07139
      Location:59299
      DUF1387; Protein of unknown function (DUF1387)
    8. XM_024452786.1XP_024308554.1  SPATS2-like protein isoform X2

      Conserved Domains (1) summary
      pfam07139
      Location:59368
      DUF1387; Protein of unknown function (DUF1387)
    9. XM_005246459.1XP_005246516.1  SPATS2-like protein isoform X4

      See identical proteins and their annotated locations for XP_005246516.1

      UniProtKB/Swiss-Prot
      Q9NUQ6
      Conserved Domains (1) summary
      pfam07139
      Location:59299
      DUF1387; Protein of unknown function (DUF1387)
    10. XM_024452785.1XP_024308553.1  SPATS2-like protein isoform X2

      Conserved Domains (1) summary
      pfam07139
      Location:59368
      DUF1387; Protein of unknown function (DUF1387)
    11. XM_017003784.2XP_016859273.1  SPATS2-like protein isoform X3

    12. XM_024452787.1XP_024308555.1  SPATS2-like protein isoform X2

      Related
      ENSP00000386310.1, ENST00000409151.5
      Conserved Domains (1) summary
      pfam07139
      Location:59368
      DUF1387; Protein of unknown function (DUF1387)
    13. XM_005246458.2XP_005246515.1  SPATS2-like protein isoform X2

      See identical proteins and their annotated locations for XP_005246515.1

      UniProtKB/Swiss-Prot
      Q9NUQ6
      UniProtKB/TrEMBL
      A0A024R3V0
      Conserved Domains (1) summary
      pfam07139
      Location:59368
      DUF1387; Protein of unknown function (DUF1387)
    14. XM_017003785.2XP_016859274.1  SPATS2-like protein isoform X4

      UniProtKB/Swiss-Prot
      Q9NUQ6
      Conserved Domains (1) summary
      pfam07139
      Location:59299
      DUF1387; Protein of unknown function (DUF1387)
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