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Aliases for ZNF408 Gene

Aliases for ZNF408 Gene

  • Zinc Finger Protein 408 2 3 5
  • PR Domain Zinc Finger Protein 17 3 4
  • PRDM17 4
  • PFM14 4
  • EVR6 3
  • RP72 3

External Ids for ZNF408 Gene

Previous GeneCards Identifiers for ZNF408 Gene

  • GC11P047600
  • GC11P046753
  • GC11P046686
  • GC11P046678
  • GC11P046428

Summaries for ZNF408 Gene

GeneCards Summary for ZNF408 Gene

ZNF408 (Zinc Finger Protein 408) is a Protein Coding gene. Diseases associated with ZNF408 include exudative vitreoretinopathy 6 and retinitis pigmentosa 72. GO annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot for ZNF408 Gene

  • May be involved in transcriptional regulation.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF408 Gene

Genomics for ZNF408 Gene

Regulatory Elements for ZNF408 Gene

Enhancers for ZNF408 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ZNF408 on UCSC Golden Path with GeneCards custom track

Promoters for ZNF408 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ZNF408 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZNF408 Gene

Chromosome:
11
Start:
46,700,767 bp from pter
End:
46,705,916 bp from pter
Size:
5,150 bases
Orientation:
Plus strand

Genomic View for ZNF408 Gene

Genes around ZNF408 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF408 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF408 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF408 Gene

Proteins for ZNF408 Gene

  • Protein details for ZNF408 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9D4-ZN408_HUMAN
    Recommended name:
    Zinc finger protein 408
    Protein Accession:
    Q9H9D4

    Protein attributes for ZNF408 Gene

    Size:
    720 amino acids
    Molecular mass:
    78439 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ZNF408 Gene

Proteomics data for ZNF408 Gene at MOPED

Post-translational modifications for ZNF408 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF408 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZNF408 Gene

Domains & Families for ZNF408 Gene

Gene Families for ZNF408 Gene

Protein Domains for ZNF408 Gene

Suggested Antigen Peptide Sequences for ZNF408 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H9D4

UniProtKB/Swiss-Prot:

ZN408_HUMAN :
  • Contains 10 C2H2-type zinc fingers.
Similarity:
  • Contains 10 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZNF408: view

Function for ZNF408 Gene

Molecular function for ZNF408 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Gene Ontology (GO) - Molecular Function for ZNF408 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042802 identical protein binding IPI 15231747
genes like me logo Genes that share ontologies with ZNF408: view
genes like me logo Genes that share phenotypes with ZNF408: view

Human Phenotype Ontology for ZNF408 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ZNF408 Gene

miRTarBase miRNAs that target ZNF408

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF408 Gene

Localization for ZNF408 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF408 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZNF408 Gene COMPARTMENTS Subcellular localization image for ZNF408 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2

No data available for Gene Ontology (GO) - Cellular Components for ZNF408 Gene

Pathways & Interactions for ZNF408 Gene

SuperPathways for ZNF408 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF408 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ZNF408 Gene

Drugs & Compounds for ZNF408 Gene

No Compound Related Data Available

Transcripts for ZNF408 Gene

Unigene Clusters for ZNF408 Gene

Zinc finger protein 408:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF408 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: -

Relevant External Links for ZNF408 Gene

GeneLoc Exon Structure for
ZNF408
ECgene alternative splicing isoforms for
ZNF408

Expression for ZNF408 Gene

mRNA expression in normal human tissues for ZNF408 Gene

Protein differential expression in normal tissues from HIPED for ZNF408 Gene

This gene is overexpressed in Adipocyte (59.1) and Lymph node (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZNF408 Gene



SOURCE GeneReport for Unigene cluster for ZNF408 Gene Hs.656931

mRNA Expression by UniProt/SwissProt for ZNF408 Gene

Q9H9D4-ZN408_HUMAN
Tissue specificity: Highest expression is observed in adult retina; abundantly expressed in the fetal eye (PubMed:23716654). In the retina, it is detected in the outer nuclear layer, especially cone and rod photoreceptor cells, ganglion cell layer and both outer and inner plexiform layers (at protein level) (PubMed:25882705). Expressed in retinal blood vessels (at protein level) (PubMed:25882705).
genes like me logo Genes that share expression patterns with ZNF408: view

Protein tissue co-expression partners for ZNF408 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ZNF408 Gene

Orthologs for ZNF408 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF408 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ZNF408 35
  • 82.16 (n)
  • 78.65 (a)
ZNF408 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZNF408 35
  • 85.21 (n)
  • 82.75 (a)
ZNF408 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zfp408 35
  • 76.99 (n)
  • 69.18 (a)
Zfp408 16
Zfp408 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ZNF408 35
  • 99.26 (n)
  • 99.17 (a)
ZNF408 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100362202 35
  • 76.16 (n)
  • 68.44 (a)
oppossum
(Monodelphis domestica)
Mammalia ZNF408 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZNF408 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia znf408 35
  • 56.28 (n)
  • 52.95 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC793421 35
  • 50.65 (n)
  • 47.26 (a)
ZNF408 36
  • 35 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7747 35
Species with no ortholog for ZNF408:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZNF408 Gene

ENSEMBL:
Gene Tree for ZNF408 (if available)
TreeFam:
Gene Tree for ZNF408 (if available)

Paralogs for ZNF408 Gene

genes like me logo Genes that share paralogs with ZNF408: view

No data available for Paralogs for ZNF408 Gene

Variants for ZNF408 Gene

Sequence variations from dbSNP and Humsavar for ZNF408 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs36017347 - 46,704,710(-) GGCTC(C/G/T)GCGAG reference, missense
VAR_074612 -
VAR_074613 Vitreoretinopathy, exudative 6 (EVR6)
VAR_074614 -
VAR_074615 Retinitis pigmentosa 72 (RP72)

Variation tolerance for ZNF408 Gene

Residual Variation Intolerance Score: 11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.00; 87.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF408 Gene

HapMap Linkage Disequilibrium report
ZNF408
Human Gene Mutation Database (HGMD)
ZNF408

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ZNF408 Gene

Disorders for ZNF408 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ZNF408 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
exudative vitreoretinopathy 6
  • vitreoretinopathy, exudative 6
retinitis pigmentosa 72
  • rp72
exudative vitreoretinopathy
  • exudative vitreoretinopathy 1
retinitis pigmentosa
  • retinitis pigmentosa 1
retinal detachment
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZN408_HUMAN
  • Retinitis pigmentosa 72 (RP72) [MIM:616469]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:25882705}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Vitreoretinopathy, exudative 6 (EVR6) [MIM:616468]: A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. {ECO:0000269 PubMed:23716654}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZNF408

Genetic Association Database (GAD)
ZNF408
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF408
genes like me logo Genes that share disorders with ZNF408: view

No data available for Genatlas for ZNF408 Gene

Publications for ZNF408 Gene

  1. Whole Exome Sequencing Reveals ZNF408 as a New Gene Associated With Autosomal Recessive Retinitis Pigmentosa with Vitreal Alterations. (PMID: 25882705) Avila-Fernandez A. … Ayuso C. (Hum. Mol. Genet. 2015) 3 4 67
  2. A protein interaction framework for human mRNA degradation. (PMID: 15231747) Lehner B. … Sanderson C.M. (Genome Res. 2004) 2 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. (PMID: 23716654) Collin R.W. … Cremers F.P. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3

Products for ZNF408 Gene

Sources for ZNF408 Gene

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