RNF112

ring finger protein 112, the group of Ring finger proteins

Basic information

Region (hg38): 17:19411125-19417276

Previous symbols: [ "ZNF179" ]

Links

ENSG00000128482 ∙ NCBI:7732 ∙ OMIM:601237 ∙ HGNC:12968 ∙ Uniprot:Q9ULX5 ∙ 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 RNF112 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF112 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			29	2		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	2	2

Variants in RNF112

This is a list of pathogenic ClinVar variants found in the RNF112 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-19412524-A-G		not specified	Uncertain significance (Mar 03, 2022)
17-19412526-C-A		not specified	Uncertain significance (Nov 12, 2021)
17-19412557-G-A		not specified	Uncertain significance (Aug 04, 2021)
17-19412596-G-A		not specified	Uncertain significance (Jun 28, 2022)
17-19412637-C-T		not specified	Uncertain significance (May 20, 2024)
17-19413058-C-G		not specified	Uncertain significance (Mar 03, 2022)
17-19413073-G-A		not specified	Uncertain significance (Jun 22, 2021)
17-19413136-C-T		not specified	Uncertain significance (Dec 22, 2023)
17-19413295-G-A		not specified	Likely benign (Jan 02, 2024)
17-19413319-T-A		not specified	Uncertain significance (Nov 03, 2022)
17-19413352-C-T		not specified	Uncertain significance (Jan 17, 2023)
17-19413355-G-A		not specified	Likely benign (Mar 06, 2023)
17-19413600-A-G			Benign (Nov 10, 2017)
17-19413613-A-T		not specified	Uncertain significance (May 09, 2023)
17-19414122-G-T		not specified	Uncertain significance (Mar 14, 2023)
17-19414128-G-A		not specified	Uncertain significance (Dec 15, 2023)
17-19414592-G-T		not specified	Uncertain significance (Oct 06, 2021)
17-19414613-T-A		not specified	Uncertain significance (Oct 05, 2023)
17-19414654-C-G		not specified	Uncertain significance (Jan 24, 2023)
17-19414855-G-A		not specified	Uncertain significance (Jul 06, 2022)
17-19414869-G-A		not specified	Uncertain significance (Aug 02, 2022)
17-19415076-G-A		not specified	Uncertain significance (Dec 03, 2021)
17-19415091-A-C		not specified	Uncertain significance (Dec 06, 2021)
17-19415109-G-A		not specified	Uncertain significance (Mar 29, 2022)
17-19415119-G-A		not specified	Uncertain significance (Dec 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF112	protein_coding	protein_coding	ENST00000461366	14	6152

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0218	0.978	124628	0	16	124644	0.0000642

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.50	298	380	0.784	0.0000233	4021
Missense in Polyphen		78	116.9	0.66725		1309
Synonymous	-0.564	168	159	1.06	0.0000100	1332
Loss of Function	3.35	8	26.7	0.300	0.00000122	319

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000184	0.000181
Ashkenazi Jewish	0.0000995	0.0000994
East Asian	0.000113	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.0000539	0.0000531
Middle Eastern	0.000113	0.000111
South Asian	0.0000660	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development. During embryonic development initiates neuronal differentiation by inducing cell cycle arrest at the G0/G1 phase through up-regulation of cell- cycle regulatory proteins (PubMed:28684796). Plays a role not only in the fetal period during the development of the nervous system, but also in the adult brain, where it is involved in the maintenance of neural functions and protection of the nervous tissue cells from oxidative stress-induced damage. Exhibits GTPase and E3 ubiquitin-protein ligase activities. Regulates dendritic spine density and synaptic neurotransmission; its ability to hydrolyze GTP is involved in the maintenance of dendritic spine density (By similarity). {ECO:0000250|UniProtKB:Q96DY5, ECO:0000269|PubMed:28684796}.

Recessive Scores

• pRec: 0.242

Haploinsufficiency Scores

• pHI: 0.322
• hipred: N
• hipred_score: 0.484
• ghis: 0.641

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.695

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf112
• Phenotype: reproductive system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: cell cycle arrest;neuron differentiation;response to hydroperoxide;cell death in response to oxidative stress;cell death in response to hydrogen peroxide;positive regulation of neuron differentiation;positive regulation of glial cell differentiation;protein autoubiquitination;positive regulation of cell cycle arrest;embryonic brain development
• Cellular component: nucleus;nucleoplasm;cytoplasm;endosome;synaptic vesicle;postsynaptic density;integral component of membrane;nuclear body;extrinsic component of membrane;cell junction;cell body;postsynaptic membrane
• Molecular function: GTPase activity;GTP binding;zinc ion binding;protein self-association;ubiquitin protein ligase activity