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

Summary

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

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 (7447754..7463542, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (7176751..7192550, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (7305276..7321064, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
HE2 peptides were detected in human epididymal epithelium, epididymal fluid, and ejaculate
Title: Novel antimicrobial peptide of human epididymal duct origin.
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).
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.
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.
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.

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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

RH92070 (e-PCR)
- UniSTS:87065

D8S2060 (e-PCR)
- UniSTS:37406

SHGC-132077 (e-PCR)
- UniSTS:184690

SHGC-143062 (e-PCR)
- UniSTS:184706

NoName (e-PCR)
- UniSTS:482453

NoName (e-PCR)
- UniSTS:490472

SHGC-11992 (e-PCR)
- UniSTS:43253

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytolysis by host of symbiont cells	IMP Inferred from Mutant Phenotype more info	PubMed
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

NG_029571.1 RefSeqGene

Range

5129..18068

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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, A0AAG2TUM7

Related

ENSP00000352797.5, ENST00000359758.9

Conserved Domains (1) summary

pfam05324
Location:8 → 72

Sperm_Ag_HE2; Sperm antigen HE2
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, A0AAG2TUK4

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
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
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
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
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