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

Gene ID: 653423, updated on 27-Nov-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. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See SPAG11A in Genome Data Viewer
Location:
8p23.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (7848008..7863797)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (11994024..12009796)
RS_2024_09 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)

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 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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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, A0AAG2TUM7
    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
    A0A2R8Y853, A0AAG2TUK4
    Related
    ENSP00000496500.1, ENST00000642566.2

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_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

    UniProtKB/TrEMBL
    A0AAG2UY95

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

    UniProtKB/TrEMBL
    A0AAG2UXL4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PDA7.3 GenPept UniProtKB/Swiss-Prot:Q6PDA7

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