SPAG11A

Summary

SPAG11A (sperm associated antigen 11A, HGNC:33342) is a protein-coding gene on chromosome 8p23.1, encoding Sperm-associated antigen 11A (Q6PDA7). Has antimicrobial activity against E.coli.

Involved in antimicrobial humoral immune response mediated by antimicrobial peptide. Predicted to be located in extracellular region.

Source: NCBI Gene 653423 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 9 total
• MANE Select transcript: NM_001395484

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33342
Approved symbol	SPAG11A
Name	sperm associated antigen 11A
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Aliases	HE2, EDDM2A
Ensembl gene	ENSG00000178287
Ensembl biotype	protein_coding
Entrez	653423

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 nonsense_mediated_decay

ENST00000326558, ENST00000326625, ENST00000351436, ENST00000400125, ENST00000434307, ENST00000454911, ENST00000525884, ENST00000528033, ENST00000642566

RefSeq mRNA: 3 — MANE Select: NM_001395484 NM_001081552, NM_001363726, NM_001395484

CCDS: CCDS43700, CCDS87575, CCDS94257

Canonical transcript exons

ENST00000642566 — 3 exons

Exon	Start	End
ENSE00001634679	7848691	7848843
ENSE00003978154	7848008	7848107
ENSE00003978155	7860646	7860943

Expression profiles

Bgee: expression breadth broad, 55 present calls, max score 86.12.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1993 / max 359.5963, expressed in 3 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
205058	0.1886	3
205057	0.0108	1

Top tissues by expression

105 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.12	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.65	gold quality
lower esophagus mucosa	UBERON:0035834	45.26	silver quality
colonic epithelium	UBERON:0000397	42.64	gold quality
ganglionic eminence	UBERON:0004023	39.52	silver quality
monocyte	CL:0000576	37.59	gold quality
leukocyte	CL:0000738	36.69	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
endocervix	UBERON:0000458	35.94	silver quality
skeletal muscle tissue	UBERON:0001134	35.26	gold quality
esophagus mucosa	UBERON:0002469	35.14	gold quality
endometrium	UBERON:0001295	34.99	gold quality
fallopian tube	UBERON:0003889	33.88	gold quality
muscle tissue	UBERON:0002385	32.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
left uterine tube	UBERON:0001303	30.73	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.86	silver quality
lymph node	UBERON:0000029	29.47	silver quality
esophagus	UBERON:0001043	29.32	gold quality
urinary bladder	UBERON:0001255	28.35	gold quality
duodenum	UBERON:0002114	28.14	gold quality
subcutaneous adipose tissue	UBERON:0002190	27.76	gold quality
kidney	UBERON:0002113	27.50	gold quality
cortex of kidney	UBERON:0001225	27.31	silver quality
tonsil	UBERON:0002372	27.05	gold quality
vagina	UBERON:0000996	27.04	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting SPAG11A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-34B-3P	98.70	67.40	1171
HSA-MIR-12125	98.59	67.54	1044

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Spag11b	ENSMUSG00000059463
rattus_norvegicus		ENSRNOG00000081099
rattus_norvegicus		ENSRNOG00000083831

Paralogs (1): SPAG11B (ENSG00000164871)

Protein

Protein identifiers

Sperm-associated antigen 11A — Q6PDA7 (reviewed: Q6PDA7)

Alternative names: Antimicrobial-like protein Bin-1b, Human epididymis-specific protein 2, Protein EP2, Sperm antigen HE2

All UniProt accessions (8): Q6PDA7, A0A0A0MR37, A0A0B4J218, A0A2R8Y853, C9IZU7, C9JP82, H0YEK6, J3KR45

UniProt curated annotations — full annotation on UniProt →

Function. Has antimicrobial activity against E.coli. Plays a role in the defense response in the male reproductive tract, contributing to sperm maturation, storage and protection.

Subcellular location. Secreted.

Similarity. Belongs to the SPAG11 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6PDA7-1	1, HE2 alpha1	yes
Q6PDA7-2	2, EP2G, HE2 beta2
Q6PDA7-3	3, EP2H, HE2 gamma1
Q6PDA7-4	4, EP2I, HE2 gamma2

RefSeq proteins (3): NP_001075021, NP_001350655, NP_001382413* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007988	Sperm_Ag_11A_B	Family

Pfam: PF05324

UniProt features (11 total): splice variant 4, sequence conflict 3, signal peptide 1, chain 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PDA7-F1	57.34	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 29

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 19 (showing top): GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_RESPONSE_TO_BACTERIUM, ATM_DN.V1_DN, E2F3_UP.V1_DN, PRC2_EZH2_UP.V1_DN, IL15_UP.V1_UP, KRAS.AMP.LUNG_UP.V1_DN, JAK2_DN.V1_UP, KRAS.600.LUNG.BREAST_UP.V1_DN, KRAS.LUNG.BREAST_UP.V1_DN, GSE10325_BCELL_VS_LUPUS_BCELL_UP, GSE13411_IGM_VS_SWITCHED_MEMORY_BCELL_UP, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, GSE1740_MCSF_VS_MCSF_AND_IFNG_DAY2_DERIVED_MACROPHAGE_UP

GO Biological Process (3): defense response to bacterium (GO:0042742), defense response (GO:0006952), defense response to other organism (GO:0098542)

GO Molecular Function (0):

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response	2
response to bacterium	1
response to stress	1
response to other organism	1
cellular anatomical structure	1

Protein interactions and networks

STRING

272 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPAG11A	DEFB113	Q30KQ7	512
SPAG11A	C10orf71	Q711Q0	507
SPAG11A	DEFB126	Q9BYW3	493
SPAG11A	TRIM64B	A6NI03	449
SPAG11A	WFDC9	Q8NEX5	449
SPAG11A	OR5H14	A6NHG9	445
SPAG11A	TRIM64	A6NGJ6	430
SPAG11A	DEFB130A	P0DP74	409
SPAG11A	WFDC11	Q8NEX6	408
SPAG11A	LCN8	Q6JVE9	407
SPAG11A	PTH2R	P49190	399
SPAG11A	CCDC198	Q9NVL8	398
SPAG11A	WFDC8	Q8IUA0	396
SPAG11A	DEFB129	Q9H1M3	392
SPAG11A	DEFB118	Q96PH6	391

IntAct

0 interactions, top by confidence:

BioGRID (13): SPAG11B (Synthetic Lethality), SPAG11B (Two-hybrid), UBQLN2 (Two-hybrid), MAEA (Affinity Capture-MS), MANBA (Affinity Capture-MS), SEL1L (Affinity Capture-MS), FAM118B (Affinity Capture-MS), WDR26 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), ZMYND19 (Affinity Capture-MS), ITGAV (Affinity Capture-MS), UBR1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0B4J1N3, A0A1B0GTK4, A0A1B0GTR0, A0JNL8, A2RUT3, A4IFR0, C9JUS6, D3ZKM3, E9PXB6, F2Z3F1, O70899, O71302, O93195, O95411, P03165, P04610, P0C7M3, P12912, P13206, P20976, P20977, P29560, P47939, P47940, P69714, Q02919, Q08648, Q1RN00, Q1WG82, Q5PR19, Q66669, Q67923, Q69027, Q69604, Q6PDA7, Q6UWK7, Q80IU5, Q80IU8, Q8N5N4, Q913A9

Diamond homologs: Q08648, Q3UW43, Q6PDA7, Q9MZ28, Q8K4N2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

9 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

221 predictions. Top by Δscore:

Variant	Effect	Δscore
8:7850009:A:AG	acceptor_gain	1.0000
8:7850014:A:AG	acceptor_gain	1.0000
8:7850015:G:GA	acceptor_gain	1.0000
8:7848687:ACAG:A	acceptor_gain	0.9900
8:7848840:CAAGG:C	donor_loss	0.9900
8:7848841:AAGG:A	donor_loss	0.9900
8:7848842:AGG:A	donor_loss	0.9900
8:7848844:G:A	donor_loss	0.9900
8:7848845:T:A	donor_loss	0.9900
8:7850009:AAT:A	acceptor_gain	0.9900
8:7850010:A:G	acceptor_gain	0.9900
8:7850011:T:G	acceptor_gain	0.9900
8:7850011:T:TA	acceptor_gain	0.9900
8:7850013:CAG:C	acceptor_loss	0.9900
8:7850014:A:G	acceptor_loss	0.9900
8:7850015:GA:G	acceptor_gain	0.9900
8:7850015:GAA:G	acceptor_gain	0.9900
8:7850015:GAACC:G	acceptor_gain	0.9900
8:7848685:GCACA:G	acceptor_loss	0.9800
8:7848686:CACAG:C	acceptor_loss	0.9800
8:7848688:C:G	acceptor_gain	0.9800
8:7848688:CAG:C	acceptor_loss	0.9800
8:7848689:A:AG	acceptor_gain	0.9800
8:7848689:AG:A	acceptor_gain	0.9800
8:7848689:AGG:A	acceptor_loss	0.9800
8:7848690:G:GA	acceptor_loss	0.9800
8:7848690:G:GG	acceptor_gain	0.9800
8:7848690:GG:G	acceptor_gain	0.9800
8:7848690:GGATC:G	acceptor_gain	0.9800
8:7850015:GAAC:G	acceptor_gain	0.9800

AlphaMissense

856 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001447241 (8:7857231 T>A), RS1001814961 (8:7852468 G>A), RS1002414627 (8:7863618 C>T), RS1005286935 (8:7860856 G>A), RS1005729495 (8:7861656 T>A,C,G), RS1006994252 (8:7848334 T>C), RS1009794837 (8:7861917 C>G), RS1009826073 (8:7863393 C>T), RS1011360664 (8:7856978 A>G), RS1011497175 (8:7852095 C>A,T), RS1017919945 (8:7858229 C>T), RS1017981992 (8:7861746 G>A), RS1018369472 (8:7860891 G>T), RS1020077101 (8:7848344 A>G), RS1021469095 (8:7848859 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases expression	1
Phosphorus	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.