ACTL9 (actin like 9)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 284382
Gene name Actin like 9
Gene symbol ACTL9
Synonyms (NCBI Gene)
HSD21SPGF53
Chromosome 19
Chromosome location 19p13.2
miRNA miRNA information provided by mirtarbase database.
7
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619251 28494 ENSG00000181786
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spermatogenic failure 53 Pathogenic rs1478948010, rs532021673, rs34687433 RCV001353192
RCV001353193
RCV001353194
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACTL9-related disorder Likely benign rs112957538 RCV003923884
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Infertility Associate 36896575
Infertility Male Associate 36896575
Neoplasms Associate 33707600
Neurofibrosarcoma Associate 33707600