MIER2

MIER family member 2, the group of Myb/SANT domain containing

Basic information

Region (hg38): 19:305573-344815

Previous symbols: [ "KIAA1193" ]

Links

ENSG00000105556 ∙ NCBI:54531 ∙ OMIM:620092 ∙ HGNC:29210 ∙ Uniprot:Q8N344 ∙ 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 MIER2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIER2 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				1		1
missense			36	1		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	2	0

Variants in MIER2

This is a list of pathogenic ClinVar variants found in the MIER2 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-306704-C-T		not specified	Uncertain significance (May 23, 2023)
19-307257-G-A		not specified	Uncertain significance (Jan 03, 2024)
19-307312-C-T		not specified	Uncertain significance (Nov 03, 2022)
19-307321-C-T		not specified	Uncertain significance (May 18, 2023)
19-307348-C-G		not specified	Uncertain significance (Apr 07, 2023)
19-307384-C-T		not specified	Uncertain significance (Jul 30, 2023)
19-307471-G-A		not specified	Uncertain significance (Nov 10, 2022)
19-307510-C-T		not specified	Uncertain significance (Oct 26, 2022)
19-308580-T-G		not specified	Uncertain significance (Jan 25, 2023)
19-308586-T-C		not specified	Uncertain significance (Jun 17, 2024)
19-308631-C-T		not specified	Uncertain significance (Jun 22, 2023)
19-308813-G-A		not specified	Uncertain significance (Feb 15, 2023)
19-308828-C-T		not specified	Uncertain significance (Feb 05, 2024)
19-311911-C-T			Likely benign (Jun 01, 2022)
19-312238-A-C		not specified	Uncertain significance (Jun 22, 2023)
19-312238-A-G		not specified	Likely benign (Aug 31, 2022)
19-312247-T-C		not specified	Uncertain significance (Aug 26, 2022)
19-313509-C-T		not specified	Uncertain significance (Jan 26, 2022)
19-313553-C-A		not specified	Uncertain significance (Jan 08, 2024)
19-313557-G-A		not specified	Uncertain significance (Jan 09, 2024)
19-313589-T-A		not specified	Uncertain significance (Dec 28, 2022)
19-325698-T-C		not specified	Uncertain significance (Dec 14, 2023)
19-326536-C-A		not specified	Uncertain significance (Dec 19, 2022)
19-327139-T-C		not specified	Uncertain significance (Aug 08, 2023)
19-327157-C-G		not specified	Uncertain significance (Mar 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIER2	protein_coding	protein_coding	ENST00000264819	14	39224

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.896	0.104	125712	0	36	125748	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.559	323	353	0.916	0.0000236	3512
Missense in Polyphen		61	100.85	0.60486		1058
Synonymous	-1.98	188	157	1.20	0.0000118	1068
Loss of Function	4.17	5	29.4	0.170	0.00000152	328

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.0000544	0.0000544
Finnish	0.000282	0.000277
European (Non-Finnish)	0.000221	0.000220
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor. {ECO:0000250}.

Intolerance Scores

• loftool: 0.346
• rvis_EVS: -1.15
• rvis_percentile_EVS: 6.32

Haploinsufficiency Scores

• pHI: 0.250
• hipred: N
• hipred_score: 0.481
• ghis: 0.583

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.891

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mier2

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;histone deacetylation
• Cellular component: nucleus;nucleoplasm;cytoplasm;protein-containing complex
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;RNA polymerase II repressing transcription factor binding;DNA binding;transcription corepressor activity;histone deacetylase activity;histone deacetylase binding