ZNF446 zinc finger protein 446 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF446provided by HGNC
Official Full Name: zinc finger protein 446provided by HGNC
Primary source: HGNC:HGNC:21036
See related: Ensembl:ENSG00000083838 AllianceGenome:HGNC:21036
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: ZSCAN30; ZSCAN52; ZKSCAN20
Summary: Enables identical protein binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 4.7), ovary (RPKM 4.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.43

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (58476352..58489533)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (61572319..61585623)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (58987719..59000900)

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?

Overexpression of ZNF446 in COS-7 cells inhibits the transcriptional activities of SRE and AP-1.
Title: A novel human KRAB-containing zinc-finger gene ZNF446 inhibits transcriptional activities of SRE and AP-1.

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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in extracellular space	HDA more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: zinc finger protein 446

Names: zinc finger protein with KRAB and SCAN domains 20

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_001304453.1 → NP_001291382.1 zinc finger protein 446 isoform 2

See identical proteins and their annotated locations for NP_001291382.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has a shorter 5' UTR and differs in the 3' exon structure, compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus compared to isoform 1.

Source sequence(s)

AL833955, BQ441187, DA162028

UniProtKB/TrEMBL

Q8NDK2

Conserved Domains (3) summary

smart00431
Location:22 → 137

SCAN; leucine rich region

pfam01352
Location:209 → 237

KRAB; KRAB box

pfam02023
Location:22 → 110

SCAN; SCAN domain
NM_017908.4 → NP_060378.1 zinc finger protein 446 isoform 1

See identical proteins and their annotated locations for NP_060378.1

Status: VALIDATED

Description

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

Source sequence(s)

AK000633, AL122108, DA162028

Consensus CDS

CCDS12982.1

UniProtKB/Swiss-Prot

Q96AF5, Q9NWS9

UniProtKB/TrEMBL

M0R202

Related

ENSP00000472802.1, ENST00000594369.6

Conserved Domains (3) summary

sd00017
Location:334 → 354

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:209 → 238

KRAB; KRAB box

cl02605
Location:22 → 137

SCAN; SCAN oligomerization domain