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ZNF408 zinc finger protein 408 [ Homo sapiens (human) ]

Gene ID: 79797, updated on 10-Oct-2019

Summary

Official Symbol
ZNF408provided by HGNC
Official Full Name
zinc finger protein 408provided by HGNC
Primary source
HGNC:HGNC:20041
See related
Ensembl:ENSG00000175213 MIM:616454
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EVR6; RP72
Summary
The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]
Expression
Ubiquitous expression in bone marrow (RPKM 5.1), ovary (RPKM 3.1) and 25 other tissues See more
Orthologs

Genomic context

See ZNF408 in Genome Data Viewer
Location:
11p11.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (46701031..46705912)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46722317..46727466)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene harbinger transposase derived 1 Neighboring gene autophagy related 13 Neighboring gene Rho GTPase activating protein 1 Neighboring gene coagulation factor II, thrombin Neighboring gene cytoskeleton associated protein 5 Neighboring gene microRNA 5582

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Exudative vitreoretinopathy 6
MedGen: C4225316 OMIM: 616468 GeneReviews: Not available
Compare labs
Retinitis pigmentosa 72
MedGen: C4225315 OMIM: 616469 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12827

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
zinc finger protein 408
Names
PR domain zinc finger protein 17

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_052967.1 RefSeqGene

    Range
    5265..10146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184751.2NP_001171680.1  zinc finger protein 408 isoform 2

    See identical proteins and their annotated locations for NP_001171680.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC115088, AK022889, AK302180, AW246726, BC015708
    UniProtKB/Swiss-Prot
    Q9H9D4
    UniProtKB/TrEMBL
    B4DXY4
    Conserved Domains (3) summary
    COG5048
    Location:300508
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:403423
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:474499
    zf-H2C2_2; Zinc-finger double domain
  2. NM_024741.3NP_079017.1  zinc finger protein 408 isoform 1

    See identical proteins and their annotated locations for NP_079017.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK022889, AW246726, BC015708
    Consensus CDS
    CCDS7923.1
    UniProtKB/Swiss-Prot
    Q9H9D4
    Related
    ENSP00000309606.2, ENST00000311764.3
    Conserved Domains (3) summary
    COG5048
    Location:308516
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:411431
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:482507
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    46701031..46705912
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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