C16orf92 (chromosome 16 open reading frame 92)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 146378
Gene name Chromosome 16 open reading frame 92
Gene symbol C16orf92
Synonyms (NCBI Gene)
FIMP
Chromosome 16
Chromosome location 16p11.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IEA
GO:0007338 Process Single fertilization IEA
GO:0007342 Process Fusion of sperm to egg plasma membrane involved in single fertilization IBA
GO:0007342 Process Fusion of sperm to egg plasma membrane involved in single fertilization IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618911 26346 ENSG00000167194
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96LL3
Protein name Fertilization-influencing membrane protein
Protein function May play a role in sperm-oocyte fusion during fertilization.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17672 DUF5589 3 → 132 Family of unknown function (DUF5589) Family
Tissue specificity TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:32295885}.
Sequence
Sequence length 132
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene 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 (3)
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
CONE-ROD DYSTROPHY 22 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Decreased total lymphocyte count Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Decreased total neutrophil count Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations