RNF212B (ring finger protein 212B)

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Gene Gene information from NCBI Gene database.
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Entrez ID 100507650
Gene name Ring finger protein 212B
Gene symbol RNF212B
Synonyms (NCBI Gene)
C14orf164
Chromosome 14
Chromosome location 14q11.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
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GO ID Ontology Definition Evidence Reference
GO:0000795 Component Synaptonemal complex IBA
GO:0000795 Component Synaptonemal complex IEA
GO:0000795 Component Synaptonemal complex ISS
GO:0005694 Component Chromosome IEA
GO:0007129 Process Homologous chromosome pairing at meiosis IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
621020 20438 ENSG00000215277
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A8MTL3
Protein name E3 ubiquitin-protein ligase RNF212B (EC 2.3.2.27) (RING finger protein 212B)
Protein function Ubiquitin E3 ligase that acts as a crucial factor for crossing-over (CO) formation during meiosis. Essential for normal prophase I progression and for ensuring appropriate CO designation in meiosis. Recruits key components of the cross-over mach
Family and domains
Sequence 
MDWFHCNQCFRKDGAHFFVTSCGHIFCKKCVTLEKCAVCGTACKHLALSDNLKPQEKMFF
KSPVETALQYFSHISQVWSFQKKQTDLLIAFYKHRITKLETAMQEAQQALVSQDKELSVL
RKENGELKKFLAILKESPSRYQGSRSITPRPVGITSPSQSVTPRPSFQHSSQVVSRSSSA
ESIPYREAGFGSLGQGGRGLQGRRTPRDSYNETPSPASTHSLSYRTSSASSGQGIFSFRP
SPNGHSGHTRVLTPNNFAQRESTTTLESLPSFQLPVLQTLYQQRRHMGLPSGREAWTTSR
Sequence length 300
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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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
Female infertility Likely pathogenic rs773783502 RCV003985949
★★★★★
★★★★☆
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 Reference Evidence Score
LUNG ADENOCARCINOMA — GWAS catalog 40829600
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CANCER — GWAS catalog 40829600
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA — GWAS catalog 40829600
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA — GWAS catalog 40829600
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aneuploidy Aneuploidy Pubtator 37124137 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 37124137 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for RNF212B.

No additional diseases found yet through genes similar to RNF212B.