ACTL9 (actin like 9)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
284382
Gene name Gene Name - the full gene name approved by the HGNC.
Actin like 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACTL9
Synonyms (NCBI Gene) Gene synonyms aliases
HSD21, SPGF53
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
miRTarBase ID miRNA Experiments Reference
MIRT048100 hsa-miR-197-3p CLASH 23622248
MIRT2443097 hsa-miR-1913 CLIP-seq
MIRT2443098 hsa-miR-2355-5p CLIP-seq
MIRT2443099 hsa-miR-324-3p CLIP-seq
MIRT2443100 hsa-miR-4267 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IDA 33626338
GO:0001669 Component Acrosomal vesicle IEA
GO:0001675 Process Acrosome assembly IEA
GO:0001675 Process Acrosome assembly IMP 33626338
GO:0005515 Function Protein binding IPI 33626338
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619251 28494 ENSG00000181786
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8TC94
Protein name Actin-like protein 9
Protein function Testis-specic protein that plays an important role in fusion of proacrosomal vesicles and perinuclear theca formation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00022 Actin 47 → 416 Actin Family
Tissue specificity TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:33626338}.
Sequence
Sequence length 416
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 Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
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
Dermatitis Atopic dermatitis N/A N/A GWAS
Non-Syndromic Male Infertility Due To Sperm Motility Disorder non-syndromic male infertility due to sperm motility disorder N/A N/A GenCC
Spermatogenic Failure spermatogenic failure 53 N/A N/A GenCC
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Infertility Associate 36896575
Infertility Male Associate 36896575
Neoplasms Associate 33707600
Neurofibrosarcoma Associate 33707600