ZNF212

protein-coding

zinc finger protein 212, the group of Zinc fingers C2H2-type

Gene summary

This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]

MANE transcript

NM_012256.4

Inheritance

—

ClinVar variants

U:88B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.61

Max pathogenic AF

—

Genomic locus

chr7:149,239,651-149,255,606

External References & Databases

Ensembl (ENSG00000170260)

Transcript & Mutation Effects

hg38 • Region Span ~16.0 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 ZNF212 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 85

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_012256.4. 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			84 clinvar	4 clinvar		88
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	88	5	0	93

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_012256.4	RefSeq	NP_036388.2	5	MANE Select
ENST00000335870.7	Ensembl	ENSP00000338572.2	5	MANE Select
ENST00000462724.1	Ensembl	ENSP00000418167.1	1	Standard
ENST00000481584.1	Ensembl	ENSP00000419419.1	5	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
protein binding
zinc ion binding
identical protein binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000335870
Coding exons: 5
Length: 15959
Individuals with no LoFs: 125587
Homozygous LoFs: 0
Heterozygous LoFs: 161
Defined: 125748
p: 0.000640

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.605	261	290	0.900	0.0000172	3200
Missense (PolyPhen)		94	108.66	0.86507		1178
Synonymous	0.0118	121	121	0.999	0.00000708	1001
Loss of Function	1.59	12	19.6	0.612	9.32e-7	229

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00058	0.00058	rare
Ashkenazi Jewish	0.00015	0.000099	rare
East Asian	0.00038	0.00038	rare
Finnish	0.00023	0.00023	rare
European (Non-Finnish)	0.0011	0.0011	notable
South Asian	0.000065	0.000065	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.112

Intolerance Scores

LoFtool: 0.883
RVIS EVS: 0.29
RVIS percentile EVS: 71.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.898

Gene Damage Prediction

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