SPAG6 (sperm associated antigen 6)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9576
Gene name Gene Name - the full gene name approved by the HGNC.
Sperm associated antigen 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPAG6
Synonyms (NCBI Gene) Gene synonyms aliases
CFAP194, CT141, FAP194, Repro-SA-1, pf16
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
SOX5 Unknown 20668334
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(25)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605730 11215 ENSG00000077327
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthenozoospermia Associate 35232447
Capillary Malformation Arteriovenous Malformation Associate 32124190
Ciliary Motility Disorders Associate 32124190, 35232447
Ciliopathies Associate 32124190
Cryptorchidism Associate 38027210
Immunologic Deficiency Syndromes Associate 36742411
Infertility Associate 32124190
Infertility Male Associate 32124190
Leukemia Associate 34600138, 37681349
Leukemia Myeloid Acute Associate 34600138