Seroatlas · Human Serome Atlas

RNF212

Probable E3 SUMO-protein ligase RNF212

Also known as: FLJ38841, LOC285498, RN212_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q495C1
Gene: RNF212
Ensembl: ENSG00000178222
Chromosome: 4
Canonical length: 297 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

Canonical amino-acid sequenceUniProt

297 residues, UniProt reviewed canonical sequence.

>Q495C1|RNF212
     1  MANWVFCNRC FQPPHRTSCF SLTNCGHVYC DACLGKGKKN ECLICKAPCR TVLLSKHTDA
    61  DIQAFFMSID SLCKKYSRET SQILEFQEKH RKRLLAFYRE KISRLEESLR KSVLQIEQLQ
   121  SMRSSQQTAF STIKSSVSTK PHGCLLPPHS SAPDRLESME VDLSPSPIRK SEIAAGPARI
   181  SMISPPQDGR MGPHLTASFC FIPWLTLSKP PVPGECVISR GSPCFCIDVC PHWLLLLAFS
   241  SGRHGELTNS KTLPIYAEVQ RAVLFPFQQA EGTLDTFRTP AVSVVFPLCQ FERKKSF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RNF212 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.59
Highest tissue expression: 8.5 nTPM

Expression across tissuesHPA

Tissue

pancreas: 8.5 nTPM
pituitary gland: 6.9 nTPM
ovary: 4.8 nTPM
testis: 4.5 nTPM
kidney: 4.3 nTPM
thyroid gland: 4.2 nTPM

Single-cell type

oocytes: 74 nCPM
early primary spermatocytes: 71 nCPM
lactotrophs: 68 nCPM
somatotrophs: 49 nCPM
undifferentiated spermatogonia: 46 nCPM
differentiating spermatogonia: 42 nCPM

Immune cell

naive CD4 T-cell: 2.4 nTPM
memory CD4 T-cell: 1.7 nTPM
naive B-cell: 1 nTPM
T-reg: 1 nTPM
gdT-cell: 0.9 nTPM
MAIT T-cell: 0.7 nTPM

Brain region

cerebellum: 11 nTPM
basal ganglia: 5.6 nTPM
choroid plexus: 4.5 nTPM
amygdala: 4.3 nTPM
white matter: 4.3 nTPM
cerebral cortex: 4.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RNF212.

Disease | AllUniProt

Conditions RNF212 is implicated in, by any mechanism.

Spermatogenic failure 62 (SPGF62) MIM:619673

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 79 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 62

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.86
gnomAD pLI: 0
gnomAD missense Z: 0.07
DepMap mean gene effect: 0.1
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

synaptonemal complex

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RNF212 as an antibody target. Whether an autoantibody or antibody against RNF212 could matter depends on whether native RNF212 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RNF212 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RNF212 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...