MIER2

protein-coding

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

Gene summary

Enables histone deacetylase binding activity. Contributes to histone deacetylase activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA1193

MANE transcript

NM_017550.3

Inheritance

—

ClinVar variants

U:104B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.17

Max pathogenic AF

—

Genomic locus

chr19:305,573-344,815

External References & Databases

Ensembl (ENSG00000105556)

Transcript & Mutation Effects

hg38 • Region Span ~39.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MIER2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 100

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017550.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			96 clinvar	6 clinvar		102
nonsense			1 clinvar			1
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	104	7	0	111

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 42 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017550.3	RefSeq	NP_060020.1	14	MANE Select
ENST00000264819.7	Ensembl	ENSP00000264819.3	14	MANE Select
NM_001346105.2	RefSeq	NP_001333034.1	12	Standard
NM_001387152.1	RefSeq	NP_001374081.1	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of transcription by RNA polymerase II
histone deacetylation

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

Cellular Component

nucleus
nucleoplasm
cytoplasm
protein-containing complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000264819
Coding exons: 14
Length: 39224
Individuals with no LoFs: 125712
Homozygous LoFs: 0
Heterozygous LoFs: 36
Defined: 125748
p: 0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.559	323	353	0.916	0.0000236	3512
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.000054	0.000054	rare
Finnish	0.00028	0.00028	rare
European (Non-Finnish)	0.00022	0.00022	rare
South Asian	0	0.0	absent
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Intolerance Scores

LoFtool: 0.346
RVIS EVS: -1.15
RVIS percentile EVS: 6.32

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.891

Gene Damage Prediction

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