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    SPAG11A sperm associated antigen 11A [ Homo sapiens (human) ]

    Gene ID: 653423, updated on 3-Apr-2024

    Summary

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    Official Symbol
    SPAG11Aprovided by HGNC
    Official Full Name
    sperm associated antigen 11Aprovided by HGNC
    Primary source
    HGNC:HGNC:33342
    See related
    Ensembl:ENSG00000178287 AllianceGenome:HGNC:33342
    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
    HE2; EDDM2A
    Summary
    Involved in antimicrobial humoral immune response mediated by antimicrobial peptide and cytolysis by host of symbiont cells. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    Location:
    8p23.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (7848008..7863797)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (11994024..12009796)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (7705530..7721319)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene translation initiation factor IF-2-like Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:7700121-7700622 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:7700623-7701122 Neighboring gene defensin beta 106A Neighboring gene defensin beta 104A Neighboring gene defensin beta 103A Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Organization of the human gene encoding the epididymis-specific EP2 protein variants and its relationship to defensin genes. Fröhlich O, et al. Biol Reprod, 2001 Apr. PMID 11259252
    2. HE2beta and HE2gamma, new members of an epididymis-specific family of androgen-regulated proteins in the human. Hamil KG, et al. Endocrinology, 2000 Mar. PMID 10698202
    3. Molecular cloning and characterization of a novel human sperm antigen (HE2) specifically expressed in the proximal epididymis. Osterhoff C, et al. Biol Reprod, 1994 Mar. PMID 8167223
    4. DNA sequence and analysis of human chromosome 8. Nusbaum C, et al. Nature, 2006 Jan 19. PMID 16421571
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sperm-associated antigen 11A
    Names
    antimicrobial-like protein Bin-1b
    epididymal protein 2A
    human epididymis-specific protein 2
    sperm antigen HE2

    NCBI Reference Sequences (RefSeq)

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    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_001081552.3 → NP_001075021.2  sperm-associated antigen 11A isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC130365, AF168618, AF170797
      Consensus CDS
      CCDS43700.1
      UniProtKB/TrEMBL
      A0A0A0MR37, A0A0G2JNX7
      Related
      ENSP00000316012.5, ENST00000326558.9
      Conserved Domains (1) summary
      pfam05324
      Location:8 → 72
      Sperm_Ag_HE2; Sperm antigen HE2

    2. NM_001363726.3 → NP_001350655.1  sperm-associated antigen 11A isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC130365
      Consensus CDS
      CCDS87575.1
      UniProtKB/TrEMBL
      A0A0G2JNB2, J3KR45
      Related
      ENSP00000416991.2, ENST00000434307.6
      Conserved Domains (1) summary
      pfam05324
      Location:8 → 71
      Sperm_Ag_HE2; Sperm antigen HE2

    3. NM_001395484.1 → NP_001382413.1  sperm-associated antigen 11A isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC130365
      Consensus CDS
      CCDS94257.1
      UniProtKB/TrEMBL
      A0A0G2JN59, A0A2R8Y853
      Related
      ENSP00000496500.1, ENST00000642566.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      7848008..7863797
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272392.6 → XP_005272449.3  sperm-associated antigen 11A isoform X1

      UniProtKB/TrEMBL
      A0A0G2JLP6
      Related
      ENSP00000382990.2, ENST00000400125.6
      Conserved Domains (1) summary
      pfam05324
      Location:8 → 74
      Sperm_Ag_HE2; Sperm antigen HE2

    2. XM_017013744.2 → XP_016869233.1  sperm-associated antigen 11A isoform X2

      UniProtKB/TrEMBL
      C9IZU7
      Related
      ENSP00000316648.5, ENST00000326625.5

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      755806..771611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332258.1 → XP_054188233.1  sperm-associated antigen 11A isoform X1

    2. XM_054332259.1 → XP_054188234.1  sperm-associated antigen 11A isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      11994024..12009796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361026.1 → XP_054217001.1  sperm-associated antigen 11A isoform X1

    2. XM_054361027.1 → XP_054217002.1  sperm-associated antigen 11A isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PDA7.3 GenPept UniProtKB/Swiss-Prot:Q6PDA7

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