MKRN2

makorin ring finger protein 2, the group of Ring finger proteins

Basic information

Region (hg38): 3:12557057-12586208

Links

ENSG00000075975 ∙ NCBI:23609 ∙ OMIM:608426 ∙ HGNC:7113 ∙ Uniprot:Q9H000 ∙ 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 MKRN2 gene.

• not_specified (68 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MKRN2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014160.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			65	1		66
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MKRN2	protein_coding	protein_coding	ENST00000170447	8	26700

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00882	0.989	125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.519	225	248	0.907	0.0000144	2776
Missense in Polyphen		86	103.19	0.8334		1157
Synonymous	-0.669	103	94.7	1.09	0.00000596	758
Loss of Function	2.67	7	19.8	0.354	0.00000100	239

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000123	0.000123
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. {ECO:0000250}.
• Pathway: Androgen Receptor Network in Prostate Cancer (Consensus)

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.418
• rvis_EVS: -0.67
• rvis_percentile_EVS: 15.62

Haploinsufficiency Scores

• pHI: 0.164
• hipred: Y
• hipred_score: 0.530
• ghis: 0.671

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.569

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mkrn2
• Phenotype: endocrine/exocrine gland phenotype; growth/size/body region phenotype; cellular phenotype; hematopoietic system phenotype; reproductive system phenotype; immune system phenotype

Gene ontology

• Biological process: biological_process;protein ubiquitination
• Molecular function: RNA binding;protein binding;transferase activity;metal ion binding