ZNF208

protein-coding

zinc finger protein 208, the group of Zinc fingers C2H2-type

Gene summary

Zinc finger proteins (ZNFs), such as ZNF208, bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug 2009]

MANE transcript

NM_007153.3

Inheritance

—

ClinVar variants

U:264B:15

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 1.14

Max pathogenic AF

—

Genomic locus

chr19:21,932,958-22,010,949

External References & Databases

Ensembl (ENSG00000160321)

Transcript & Mutation Effects

hg38 • Region Span ~78.0 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 ZNF208 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 263

not providedTotal: 12

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

CIC-rearranged sarcomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007153.3. 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				11 clinvar		11
missense			264 clinvar	4 clinvar		268
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	264	15	0	279

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007153.3	RefSeq	NP_009084.2	4	MANE Select
ENST00000397126.9	Ensembl	ENSP00000380315.3	4	MANE Select
NM_001329971.2	RefSeq	NP_001316900.1	5	Standard
NM_001329972.1	RefSeq	NP_001316901.1	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 by RNA polymerase II

Molecular Function

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

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000397126
Coding exons: 4
Length: 77992
Individuals with no LoFs: 125694
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 125698
p: 0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-4.17	919	626	1.47	0.0000274	8413
Missense (PolyPhen)		171	121.63	1.4059		1706
Synonymous	-3.45	275	211	1.30	0.00000962	2109
Loss of Function	-0.291	6	5.28	1.14	2.24e-7	64

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000026	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Intolerance Scores

LoFtool: 0.991
RVIS EVS: 3.72
RVIS percentile EVS: 99.58

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0897

Gene Damage Prediction

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