ZNF208 zinc finger protein 208 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF208provided by HGNC
Official Full Name: zinc finger protein 208provided by HGNC
Primary source: HGNC:HGNC:12999
See related: Ensembl:ENSG00000160321 MIM:603977; AllianceGenome:HGNC:12999
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PMIDP; ZNF95
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]
Expression: Broad expression in thyroid (RPKM 2.0), testis (RPKM 1.5) and 23 other tissues See more
Orthologs: all
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Genomic context

Location:: 19p12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (21939815..22010943, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (22078235..22149333, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (22122617..22193745, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

three variants were associated with the risk of ischemic stroke under allele models (rs2188971, rs2188972, rs8103163 and rs7248488). The variant rs2188972 was also associated with the risk of ischemic stroke in a recessive model after adjustment for age and sex
Title: ZNF208 polymorphisms associated with ischemic stroke in a southern Chinese Han population.
Data indicate that variants in ZNF208 are contribute to the susceptibility to esophageal cancer in a Chinese Han population.
Title: Genetic variants in the ZNF208 gene are associated with esophageal cancer in a Chinese Han population.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-112428 (e-PCR)
- UniSTS:183197

RH80873 (e-PCR)
- UniSTS:88223

RH39204 (e-PCR)
- UniSTS:91319

D17S1691 (e-PCR)
- UniSTS:18656

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: zinc finger protein 208

Names: zinc finger protein 95

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001329971.2 → NP_001316900.1 zinc finger protein 208 isoform 2

Status: VALIDATED

Source sequence(s)

AC003973
NM_001329972.1 → NP_001316901.1 zinc finger protein 208 isoform 3

Status: VALIDATED

Source sequence(s)

AC003973
NM_001329973.1 → NP_001316902.1 zinc finger protein 208 isoform 4

Status: VALIDATED

Source sequence(s)

AC003973
NM_001329974.2 → NP_001316903.1 zinc finger protein 208 isoform 5

Status: VALIDATED

Source sequence(s)

AC003973

Consensus CDS

CCDS86734.1

UniProtKB/TrEMBL

M0QYK4

Related

ENSP00000469887.1, ENST00000601773.5
NM_007153.3 → NP_009084.2 zinc finger protein 208 isoform 1

See identical proteins and their annotated locations for NP_009084.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC003973

Consensus CDS

CCDS54240.1

UniProtKB/Swiss-Prot

O43345

Related

ENSP00000380315.3, ENST00000397126.9

Conserved Domains (5) summary

smart00349
Location:4 → 64

KRAB; krueppel associated box

COG5048
Location:691 → 1133

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:667 → 687

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:4 → 43

KRAB; KRAB box

pfam13465
Location:511 → 536

zf-H2C2_2; Zinc-finger double domain