SPAG6 (sperm associated antigen 6)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 9576
Gene name Sperm associated antigen 6
Gene symbol SPAG6
Synonyms (NCBI Gene)
CFAP194CT141FAP194Repro-SA-1pf16
Chromosome 10
Chromosome location 10p12.2
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
miRNA miRNA information provided by mirtarbase database.
11
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
miRTarBase ID miRNA Experiments Reference
MIRT1381720 hsa-miR-1273g CLIP-seq
MIRT1381721 hsa-miR-147 CLIP-seq
MIRT1381722 hsa-miR-3911 CLIP-seq
MIRT1381723 hsa-miR-4668-3p CLIP-seq
MIRT1381724 hsa-miR-4773 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
SOX5 Unknown 20668334
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IBA
GO:0003351 Process Epithelial cilium movement involved in extracellular fluid movement IBA
GO:0005576 Component Extracellular region IEA
GO:0005634 Component Nucleus HDA 21630459
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605730 11215 ENSG00000077327
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75602
Protein name Sperm-associated antigen 6 (Protein PF16 homolog) (Repro-SA-1) (Sperm flagellar protein)
Protein function Important for structural integrity of the central apparatus in the sperm tail and for flagellar motility.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00514 Arm 114 → 154 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 156 → 196 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 198 → 238 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 324 → 365 Armadillo/beta-catenin-like repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|PubMed:10493827}.
Sequence 
MSQRQVLQVFEQYQKARTQFVQMVAELATRPQNIETLQNAGVMSLLRTLLLDVVPTIQQT
AALALGRLANYNDDLAEAVVKCDILPQLVYSLAEQNRFYKKAAAFVLRAVGKHSPQLAQA
IVDCGALDTLVICLEDFDPGVKEAAAWALRYIARHNAELSQAVVDAGAVPLLVLCIQEPE
IALKRIAASALSDIAKHSPELAQTVVDAGAVAHLAQMILNPDAKLKHQILSALSQVSKHS
VDLAEMVVEAEIFPVVLTCLKDKDEYVKKNASTLIREIAKHTPELSQLVVNAGGVAAVID
CIGSCKGNTRLPGIMMLGYVAAHSENLAMAVIISKGVPQLSVCLSEEPEDHIKAAAAWAL
GQIGRHTPEHARAVAVTNTLPVLLSLYMSTESSEDLQVKSKKAIKNILQKCTYLPALEPF
LYDAPPNILKHVVGQFSKVLPHDSKARRLFVTSGGLKKVQEIKAEPGSLLQEYINSINSC
YPEEIVRYYSPGYSDTLLQRVDSYQPLNN
Sequence length 509
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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 (5)
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthenozoospermia Asthenozoospermia Pubtator 35232447 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21150711
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders Ciliary dyskinesia Pubtator 32124190, 35232447 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathy Pubtator 32124190 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cryptorchidism Cryptorchidism Pubtator 38027210 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hydrocephalus Hydrocephalus BEFREE 17394468
★★★★★
★☆☆☆☆
Found in Text Mining only
Immunologic Deficiency Syndromes Immunologic Deficiency Syndromes BEFREE 29749435
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Infertility Pubtator 32124190 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 32124190 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only