Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26206
Gene name	Sperm associated antigen 8
Gene symbol	SPAG8
Synonyms (NCBI Gene)	BS-84CILD28CT142HSD-1SMP1SPAG3hSMP-1
Chromosome	9
Chromosome location	9p13.3
Summary	The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targete

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miRTarBase ID	miRNA	Experiments
MIRT1381748	hsa-miR-1208	CLIP-seq
MIRT1381749	hsa-miR-3607-3p	CLIP-seq
MIRT1381750	hsa-miR-3686	CLIP-seq
MIRT1381751	hsa-miR-4420	CLIP-seq
MIRT1381752	hsa-miR-4426	CLIP-seq
MIRT1381753	hsa-miR-4647	CLIP-seq
MIRT1381754	hsa-miR-4662b	CLIP-seq
MIRT1381755	hsa-miR-548ac	CLIP-seq
MIRT1381756	hsa-miR-548ae	CLIP-seq
MIRT1381757	hsa-miR-548aj	CLIP-seq
MIRT1381758	hsa-miR-548am	CLIP-seq
MIRT1381759	hsa-miR-548d-3p	CLIP-seq
MIRT1381760	hsa-miR-548x	CLIP-seq
MIRT1381761	hsa-miR-548z	CLIP-seq
MIRT1381762	hsa-miR-892a	CLIP-seq
MIRT1557086	hsa-miR-2861	CLIP-seq
MIRT1381751	hsa-miR-4420	CLIP-seq
MIRT2114211	hsa-miR-587	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0005515	Function	Protein binding	IPI	24722188, 25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005879	Component	Axonemal microtubule	ISS
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0016020	Component	Membrane	NAS	8788182
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	ISS

MIM	HGNC	e!Ensembl
605731	14105	ENSG00000137098

Q99932

Protein name

Sperm-associated antigen 8 (HSD-1) (Sperm membrane protein 1) (SMP-1) (Sperm membrane protein BS-84)

Protein function

Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Plays a role in spermatogenesis by enhancing the binding of CREM isoform tau

PDB

7UNG , 8J07

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis (germ cells), but not in liver, kidney, prostate and small intestine. Expressed in airway epithelial cells (PubMed:36191189). {ECO:0000269|PubMed:36191189, ECO:0000269|PubMed:8788182}.

Sequence

METNESTEGSRSRSRSLDIQPSSEGLGPTSEPFPSSDDSPRSALAAATAAAAAAASAAAA
TAAFTTAKAAALSTKTPAPCSEFMEPSSDPSLLGEPCAGPGFTHNIAHGSLGFEPVYVSC
IAQDTCTTTDHSSNPGPVPGSSSGPVLGSSSGAGHGSGSGSGPGCGSVPGSGSGPGPGSG
PGSGPGHGSGSHPGPASGPGPDTGPDSELSPCIPPGFRNLVADRVPNYTSWSQHCPWEPQ
KQPPWEFLQVLEPGARGLWKPPDIKGKLMVCYETLPRGQCLLYNWEEERATNHLDQVPSM
QDGSESFFFRHGHRGLLTMQLKSPMPSSTTQKDSYQPPGNVYWPLRGKREAMLEMLLQHQ
ICKEVQAEQEPTRKLFEVESVTHHDYRMELAQAGTPAPTKPHDYRQEQPETFWIQRAPQL
PGVSNIRTLDTPFRKNCSFSTPVPLSLGKLLPYEPENYPYQLGEISSLPCPGGRLGGGGG
RMTPF

Sequence length

485

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE	Acromesomelic dysplasia	CLINVAR_DG	15146390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22343411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	24943041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16556483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16303840		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2	Epilepsy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	10924871		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE	Epiphyseal Chondrodysplasia	CLINVAR_DG	15146390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	22343411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	22343411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	24189521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16556483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	12050237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	11739957, 16855188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12050237, 15356040, 9405715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10333548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	22343411		★★★★★ ★☆☆☆☆ Found in Text Mining only

SPAG8 (sperm associated antigen 8)