IRGC (immunity related GTPase cinema)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 56269
Gene name Immunity related GTPase cinema
Gene symbol IRGC
Synonyms (NCBI Gene)
CINEMAIFGGEIRGC1Iigp5R30953_1
Chromosome 19
Chromosome location 19q13.31
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT029888 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005525 Function GTP binding IEA
GO:0005811 Component Lipid droplet IDA 37195149
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
620634 28835 ENSG00000124449
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.
Q6NXR0
Protein name Interferon-inducible GTPase 5 (EC 3.6.5.-) (Immunity-related GTPase cinema 1)
Protein function Required for sperm motility and therefore male fertility, via positive regulation of spermatozoa fibrous sheath formation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05049 IIGP 20 → 402 Interferon-inducible GTPase (IIGP) Family
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in semen (at protein level). {ECO:0000269|PubMed:37195149}.
Sequence
Sequence length 463
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA 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 (2)
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
DEMENTIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthenozoospermia Asthenozoospermia Pubtator 37195149 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only