ZNF37A

protein-coding

zinc finger protein 37A, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001324250.3

Inheritance

—

ClinVar variants

U:83B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr10:38,094,334-38,150,293

External References & Databases

Ensembl (ENSG00000075407)

Transcript & Mutation Effects

hg38 • Region Span ~56.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Tourette syndromeNO_KNOWN

Inheritance Pattern: Unknown

Disease ID:MONDO:0007661

Submitter: Labcorp Genetics (formerly Invitae)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZNF37A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 81

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001324250.3. 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
missense			81 clinvar	1 clinvar		82
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	83	1	0	84

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 104 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001324250.3	RefSeq	NP_001311179.1	4	MANE Select
ENST00000685332.1	Ensembl	ENSP00000508865.1	4	MANE Select
NM_001007094.4	RefSeq	NP_001007095.1	4	Standard
NM_001178101.3	RefSeq	NP_001171572.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Gene expression (Transcription)
Generic Transcription Pathway
RNA Polymerase II Transcription

Biological Process

regulation of transcription, DNA-templated
regulation of transcription by RNA polymerase II

Molecular Function

DNA-binding transcription factor activity, RNA polymerase II-specific
DNA binding
DNA-binding transcription factor activity
metal ion binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000361085
Coding exons: 4
Length: 31209
Individuals with no LoFs: 125582
Homozygous LoFs: 0
Heterozygous LoFs: 145
Defined: 125727
p: 0.000577

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0822	288	284	1.01	0.0000127	3726
Missense (PolyPhen)		115	127.56	0.90153		1637
Synonymous	0.620	94	102	0.922	0.00000486	967
Loss of Function	0.871	16	20.2	0.791	8.42e-7	310

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00049	rare
Latino/Admixed American	0.0015	0.0014	notable
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.0016	0.0016	notable
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00034	0.00033	rare
South Asian	0.00053	0.00052	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in transcriptional regulation.;

Recessive Scores

pRec: 0.0957

Intolerance Scores

LoFtool: 0.970
RVIS EVS: 0.09
RVIS percentile EVS: 60.57

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.234

Gene Damage Prediction

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