RNF212B

protein-coding

ring finger protein 212B, the group of Ring finger proteins

Gene summary

Predicted to enable SUMO transferase activity and ubiquitin protein ligase activity. Predicted to be involved in chiasma assembly and protein ubiquitination. Predicted to be located in chromosome. Predicted to be active in synaptonemal complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C14orf164

MANE transcript

NM_001282322.3

Inheritance

ClinVar variants

P:1B:1

Top phenotype

Female infertility

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr14:23,185,316-23,273,477

External References & Databases

Ensembl (ENSG00000215277)

NCBI Gene (100507650)

Transcript & Mutation Effects

hg38 • Region Span ~88.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

infertility disorderMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0005047

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RNF212B variants in ClinVar

2 Conditions Cataloged

not providedTotal: 1

Female infertilityTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001282322.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense						0
nonsense		1 clinvar				1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	0	1	0	2

Highest pathogenic variant AF is 0.00010836109

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001282322.3	RefSeq	NP_001269251.1	14	MANE Select
ENST00000430154.7	Ensembl	ENSP00000397830.2	14	MANE Select
NM_001370218.3	RefSeq	NP_001357147.1	14	Standard
ENST00000399905.5	Ensembl	ENSP00000382789.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

synapsis
protein sumoylation

Molecular Function

SUMO transferase activity
metal ion binding

Cellular Component

synaptonemal complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000399910
Coding exons: 14
Length: 88162
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.59	81	133	0.611	0.00000643	1930
Missense (PolyPhen)		10	27.803	0.35968		440
Synonymous	2.22	27	46.2	0.584	0.00000215	556
Loss of Function	1.08	15	20.3	0.740	0.00000105	270

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP