RNF212B (ring finger protein 212B)

Gene

• 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)

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
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	ISS
GO:0007131	Process	Reciprocal meiotic recombination	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0019789	Function	SUMO transferase activity	IBA
GO:0019789	Function	SUMO transferase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051026	Process	Chiasma assembly	IEA
GO:0051026	Process	Chiasma assembly	ISS
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	ISS

Other IDs

• MIM: 621020
• HGNC: 20438
• e!Ensembl: ENSG00000215277

Protein

• UniProt ID: 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
• Sequence:

  MDWFHCNQCFRKDGAHFFVTSCGHIFCKKCVTLEKCAVCGTACKHLALSDNLKPQEKMFF
  KSPVETALQYFSHISQVWSFQKKQTDLLIAFYKHRITKLETAMQEAQQALVSQDKELSVL
  RKENGELKKFLAILKESPSRYQGSRSITPRPVGITSPSQSVTPRPSFQHSSQVVSRSSSA
  ESIPYREAGFGSLGQGGRGLQGRRTPRDSYNETPSPASTHSLSYRTSSASSGQGIFSFRP
  SPNGHSGHTRVLTPNNFAQRESTTTLESLPSFQLPVLQTLYQQRRHMGLPSGREAWTTSR
  

• Sequence length: 300

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)

Causal
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
Phenotype Name	Clinical Significance	Source	Evidence Score
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Aneuploidy	Associate	37124137	★☆☆☆☆ Found in Text Mining only
Infertility Male	Associate	37124137	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Associate	37124137	★☆☆☆☆ Found in Text Mining only