Gene Gene information from NCBI Gene database.
Entrez ID 283461
Gene name Regulator of DNA class I crossover intermediates 1
Gene symbol REDIC1
Synonyms (NCBI Gene)
C12orf40HEIP1HEL-206HEL-S-94
Chromosome 12
Chromosome location 12q12
miRNA miRNA information provided by mirtarbase database.
15
miRTarBase ID miRNA Experiments Reference
MIRT018817 hsa-miR-335-5p Microarray 18185580
MIRT019425 hsa-miR-148b-3p Microarray 17612493
MIRT023102 hsa-miR-124-3p Microarray 18668037
MIRT024013 hsa-miR-1-3p Microarray 18668037
MIRT1945943 hsa-miR-548ae CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183
GO:0005694 Component Chromosome IEA
GO:0051321 Process Meiotic cell cycle IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620495 26846 ENSG00000180116
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86WS4
Protein name Regulator of DNA class I crossover intermediates 1
Protein function Involved in recombination, probably acting by stabilizing recombination intermediates during meiotic crossover formation. Required for normal germline development and fertility. Required for meiotic progression, complete chromosomal synapsis and
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15089 DUF4552 229 652 Domain of unknown function (DUF4552) Family
Sequence
Sequence length 652
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spermatogenic Failure Pathogenic rs746071945 RCV003228067
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations