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SPAG11B sperm associated antigen 11B [ Homo sapiens (human) ]

Gene ID: 10407, updated on 5-Mar-2024

Summary

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Official Symbol
SPAG11Bprovided by HGNC
Official Full Name
sperm associated antigen 11Bprovided by HGNC
Primary source
HGNC:HGNC:14534
See related
Ensembl:ENSG00000164871 MIM:606560; AllianceGenome:HGNC:14534
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
EP2; HE2; EP2C; EP2D; HE2C; EDDM2B; SPAG11; SPAG11A
Summary
This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences are encoded by the splice variants. Two additional variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
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 (7447754..7463542, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7176751..7192550, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (7305276..7321064, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 3 Neighboring gene defensin beta 103B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:7304810-7305404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:7305405-7305999 Neighboring gene defensin beta 104B Neighboring gene defensin beta 106B

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. Molecular modeling of the human sperm associated antigen 11 B (SPAG11B) proteins. Narmadha G, et al. Syst Biol Reprod Med, 2015 Apr. PMID 25573789
  2. Novel antimicrobial peptide of human epididymal duct origin. von Horsten HH, et al. Biol Reprod, 2002 Sep. PMID 12193388
  3. Verification of male infertility biomarkers in seminal plasma by multiplex selected reaction monitoring assay. Drabovich AP, et al. Mol Cell Proteomics, 2011 Dec. PMID 21933954, Free PMC Article
  4. Differential expression and antibacterial activity of epididymis protein 2 isoforms in the male reproductive tract of human and rhesus monkey (Macaca mulatta). Avellar MC, et al. Biol Reprod, 2004 Nov. PMID 15229135
  5. 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

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. we report the three dimensional structure of the human SPAG11B proteins and their C-terminal peptides. web-based hydropathy, amphipathicity, and topology (WHAT) analyses and grand average of hydropathy
    Title: Molecular modeling of the human sperm associated antigen 11 B (SPAG11B) proteins.
  2. Isoform C of SPAG11B encodes a peptide with antimicrobial activity against E. coli.
    Title: Antimicrobial actions of human and macaque sperm associated antigen (SPAG) 11 isoforms: influence of the N-terminal peptide.
  3. Combination of two proteins, SPAG11B and TEX101, can be used for differential diagnosis of azoospermia
    Title: Verification of male infertility biomarkers in seminal plasma by multiplex selected reaction monitoring assay.
  4. SPAG11B/D is both a substrate and a potent inhibitor of TPSAB1 activity.
    Title: Novel partners of SPAG11B isoform D in the human male reproductive tract.
  5. HE2 peptides were detected in human epididymal epithelium, epididymal fluid, and ejaculate
    Title: Novel antimicrobial peptide of human epididymal duct origin.
  6. EP2 expression is more widespread in male reproductive tract than realized previously. Activity of every EP2 variant tested is antibacterial. Further investigation may reveal additional roles for EP2 peptides in primate male reproductive tract.
    Title: Differential expression and antibacterial activity of epididymis protein 2 isoforms in the male reproductive tract of human and rhesus monkey (Macaca mulatta).
  7. HE2 transcriptional and translational products normally expressed in the caput epididymidis were not affected by vasectomy.
    Title: Vasectomy influences expression of HE1 but not HE2 and HE5 genes in human epididymis.
  8. The human HE2/EP2 gene is the fusion product of two ancestral beta-defensin genes. During its evolution, the gene has acquired additional exons whose inclusion produces new message variants that encode peptides unrelated to defensins.
    Title: Organization of the human gene encoding the epididymis-specific EP2 protein variants and its relationship to defensin genes.
  9. In the chimpanzee epididymis, several mRNA HE2/EP2 variants are produced. Of these, three cDNAs code for two different protein sequences that have a cysteine distribution characteristic for beta-defensins.
    Title: Multiple promoter and splicing mRNA variants of the epididymis-specific gene EP2.
Submit: New GeneRIF Correction

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

Clone Names

  • MGC61846

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
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
  
involved_in spermatogenesis TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
sperm-associated antigen 11B
Names
Protein EP2
Sperm-associated antigen 11A
epididymal protein 2B
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.

Genomic

  1. NG_029571.1 RefSeqGene

    Range
    5129..18068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016512.5 → NP_057596.1  sperm-associated antigen 11B isoform A preproprotein

    See identical proteins and their annotated locations for NP_057596.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) is also called the alpha1 transcript. It lacks two internal exons and encodes an isoform (A) whose C-terminus is identical to that of isoform B encoded by variant B.
    Source sequence(s)
    AC130360, AF168616
    Consensus CDS
    CCDS5966.1
    UniProtKB/Swiss-Prot
    E9PFH0, Q08648, Q546A0, Q6ZYB2, Q9H4P8, Q9H4P9, Q9H4Q0, Q9H4Q1, Q9H4Q2, Q9NRT3, Q9NRV4, Q9NRV5, Q9NRV6, Q9NRV7, Q9NRV8
    UniProtKB/TrEMBL
    A0A0G2JNB2
    Related
    ENSP00000297498.2, ENST00000297498.6
    Conserved Domains (1) summary
    pfam05324
    Location:8 → 71
    Sperm_Ag_HE2; Sperm antigen HE2

  2. NM_058200.4 → NP_478107.2  sperm-associated antigen 11B isoform G preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (G) is also called the beta2 transcript. It lacks four internal exons. The C-terminus of the resulting isoform (G) is identical to that of isoform H encoded by variant H.
    Source sequence(s)
    AA694479, AC130360, AF168617
    Consensus CDS
    CCDS5964.1
    UniProtKB/TrEMBL
    A0A0A0MRG4, A0A0G2JNX7
    Related
    ENSP00000352797.5, ENST00000359758.9
    Conserved Domains (1) summary
    pfam05324
    Location:8 → 72
    Sperm_Ag_HE2; Sperm antigen HE2

  3. NM_058201.4 → NP_478108.2  sperm-associated antigen 11B isoform D preproprotein

    See identical proteins and their annotated locations for NP_478108.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (D) is also called the beta1 transcript. It lacks three internal exons. The C-terminus of the encoded isoform (D) is identical to that of isoform E encoded by variant E. Isoform D has a region with similarity to beta-defensins.
    Source sequence(s)
    AC130360, AF168617
    Consensus CDS
    CCDS47774.1
    UniProtKB/TrEMBL
    A0A0G2JN59
    Related
    ENSP00000381480.2, ENST00000398462.7
    Conserved Domains (2) summary
    pfam00711
    Location:80 → 113
    Defensin_beta; Beta defensin
    pfam05324
    Location:8 → 72
    Sperm_Ag_HE2; Sperm antigen HE2

  4. NM_058202.4 → NP_478109.1  sperm-associated antigen 11B isoform H preproprotein

    See identical proteins and their annotated locations for NP_478109.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (H) is also called the gamma1 transcript. It lacks five internal exons. The C-terminus of the resulting isoform (H) is identical to that of isoform G encoded by variant G.
    Source sequence(s)
    AC130360, AF168617
    Consensus CDS
    CCDS5965.1
    UniProtKB/TrEMBL
    A0A0G2JPD9
    Related
    ENSP00000354411.2, ENST00000361111.6
    Conserved Domains (1) summary
    pfam05324
    Location:8 → 74
    Sperm_Ag_HE2; Sperm antigen HE2

  5. NM_058203.4 → NP_478110.1  sperm-associated antigen 11B isoform C preproprotein

    See identical proteins and their annotated locations for NP_478110.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) has an alternate 3' UTR, compared to variant A. The resulting isoform (C) has an unique C-terminus and a region with similarity to beta-defensins.
    Source sequence(s)
    AC130360, AF168616, AJ635328
    Consensus CDS
    CCDS5967.1
    UniProtKB/TrEMBL
    A0A0G2JLP6
    Related
    ENSP00000322591.5, ENST00000317900.7
    Conserved Domains (1) summary
    pfam05324
    Location:8 → 74
    Sperm_Ag_HE2; Sperm antigen HE2

  6. NM_058206.5 → NP_478113.2  sperm-associated antigen 11B isoform B precursor

    See identical proteins and their annotated locations for NP_478113.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) has an alternate 5' UTR compared to variant A. The N-terminus of the encoded isoform (B) is identical to that of isoform E, but the remainder of the protein is identical to isoform A.
    Source sequence(s)
    AC130360, AF168616
    UniProtKB/Swiss-Prot
    Q08648
    Related
    ENSP00000431230.1, ENST00000528168.3

  7. NM_058207.4 → NP_478114.2  sperm-associated antigen 11B isoform E precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (E) has an alternate 5' UTR and lacks one internal exon, compared to variant A. The N-terminus of the encoded isoform (E) is identical to isoform B, and its C-terminus is identical to isoform D. Isoform E has a region of similarity to beta-defensins.
    Source sequence(s)
    AA694479, AC130360
    UniProtKB/Swiss-Prot
    Q08648
    Related
    ENSP00000398550.1, ENST00000458665.5
    Conserved Domains (1) summary
    pfam00711
    Location:27 → 60
    Defensin_beta; Beta defensin

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
    7447754..7463542 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    5445301..5461083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187570.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    130827..146652 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    7176751..7192550 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q08648.4 GenPept UniProtKB/Swiss-Prot:Q08648

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