C1orf146 (chromosome 1 open reading frame 146)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 388649
Gene name Chromosome 1 open reading frame 146
Gene symbol C1orf146
Synonyms (NCBI Gene)
SCRESPO16
Chromosome 1
Chromosome location 1p22.1
miRNA miRNA information provided by mirtarbase database.
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT839930 hsa-miR-3121-3p CLIP-seq
MIRT839931 hsa-miR-4795-3p CLIP-seq
MIRT839932 hsa-miR-511 CLIP-seq
MIRT839933 hsa-miR-568 CLIP-seq
MIRT839934 hsa-miR-889 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0005694 Component Chromosome IBA
GO:0005694 Component Chromosome IEA
GO:0005694 Component Chromosome ISS
GO:0007130 Process Synaptonemal complex assembly IBA
GO:0007130 Process Synaptonemal complex assembly IEA
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
618968 24032 ENSG00000203910
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.
Q5VVC0
Protein name Protein SPO16 homolog (Synaptonemal complex reinforcing element)
Protein function Plays a key role in reinforcing the integrity of the central element of the synaptonemal complex (SC) thereby stabilizing SC, ensuring progression of meiotic prophase I in male and female germ cells (By similarity). Promotes homologous recombina
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15162 DUF4580 9 → 170 Domain of unknown function (DUF4580) Family
Sequence
Sequence length 180
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
MALE INFERTILITY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations