RNF152

ring finger protein 152, the group of Ring finger proteins

Basic information

Region (hg38): 18:61808067-61894247

Links

ENSG00000176641

∙ NCBI:220441 ∙ OMIM:616512 ∙ HGNC:26811 ∙ Uniprot:Q8N8N0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNF152 gene.

not_specified (35 variants)
EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF152 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173557.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			35 clinvar			35
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF152	protein_coding	protein_coding	ENST00000312828	1	86185

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.129	0.788	125730	0	11	125741	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.648	116	137	0.844	0.00000919	1307
Missense in Polyphen		50	64.181	0.77905		592
Synonymous	0.715	55	62.2	0.885	0.00000450	437
Loss of Function	1.39	2	5.53	0.362	2.37e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000206	0.000206
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000163	0.000163
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: E3 ubiquitin-protein ligase mediating 'Lys-63'-linked polyubiquitination of RRAGA in response to amino acid starvation. Thereby, regulates mTORC1 signaling and plays a role in the cellular response to amino acid availability (PubMed:25936802). Also mediates 'Lys-48'-linked polyubiquitination of target proteins and their subsequent targeting to the proteasome for degradation. Induces apoptosis when overexpressed (PubMed:21203937). {ECO:0000269|PubMed:21203937, ECO:0000269|PubMed:25936802}.;
Pathway: mTOR signaling pathway - Homo sapiens (human);Post-translational protein modification;Metabolism of proteins;Protein ubiquitination;E3 ubiquitin ligases ubiquitinate target proteins (Consensus)

Recessive Scores

pRec: 0.111

Intolerance Scores

loftool: 0.218
rvis_EVS: -0.09
rvis_percentile_EVS: 46.74

Haploinsufficiency Scores

pHI: 0.708
hipred: N
hipred_score: 0.383
ghis: 0.513

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.906

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Rnf152
Phenotype

Zebrafish Information Network

Gene name: rnf152
Affected structure: neural tube
Phenotype tag: abnormal
Phenotype quality: decreased width

Gene ontology

Biological process: apoptotic process;positive regulation of autophagy;protein ubiquitination;cellular response to amino acid starvation;protein K63-linked ubiquitination;protein K48-linked ubiquitination;negative regulation of TORC1 signaling
Cellular component: lysosome;lysosomal membrane;integral component of organelle membrane
Molecular function: ubiquitin-protein transferase activity;small GTPase binding;metal ion binding;ubiquitin protein ligase activity