Aliases for ZNF408 Gene
Aliases for ZNF408 Gene
External Ids for ZNF408 Gene
- HGNC: 20041
- Entrez Gene: 79797
- Ensembl: ENSG00000175213
- OMIM: 616454
- UniProtKB: Q9H9D4
Previous GeneCards Identifiers for ZNF408 Gene
- GC11P047600
- GC11P046753
- GC11P046686
- GC11P046678
- GC11P046428
Summaries for ZNF408 Gene
-
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]
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. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is ZNF668.
UniProtKB/Swiss-Prot for ZNF408 Gene
-
May be involved in transcriptional regulation.
Additional gene information for ZNF408 Gene
- Monarch Initiative
- Search for ZNF408 at DataMed
- Search for ZNF408 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF408 Gene
Genomics for ZNF408 Gene
GeneHancer (GH) Regulatory Elements for ZNF408 Gene
Promoters and enhancers for ZNF408 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ZNF408 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ZNF408 Gene
Genomic Locations for ZNF408 Gene
- chr11:46,700,767-46,705,916
- (GRCh38/hg38)
- Size:
- 5,150 bases
- Orientation:
- Plus strand
- chr11:46,722,317-46,727,466
- (GRCh37/hg19)
Genomic View for ZNF408 Gene
Genes around ZNF408 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p11.2 by Ensembl
- 11p11.2 by Entrez Gene
- 11p11.2 by HGNC
ZNF408 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
Protein Expression for ZNF408 Gene
Post-translational modifications for ZNF408 Gene
Other Protein References for ZNF408 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ZNF408
-
Abcam antibodies for ZNF408
- Invitrogen Antibodies for ZNF408
- GeneTex ZNF408 antibody for ZNF408
Protein Products
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OriGene Purified Proteins for ZNF408
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- antibodies-online: Search results for 2 available ZNF408 Proteins ranked by validation data
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-
Quality Products:
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-
Abcam proteins for ZNF408
Assay Products
No data available for DME Specific Peptides for ZNF408 Gene
Domains & Families for ZNF408 Gene
Gene Families for ZNF408 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for ZNF408 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ZNF408 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ZNF408 Gene
Function for ZNF408 Gene
Molecular function for ZNF408 Gene
- UniProtKB/Swiss-Prot Function:
- May be involved in transcriptional regulation.
Phenotypes From GWAS Catalog for ZNF408 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 14667819 |
| GO:0042802 | identical protein binding | IPI | 15231747 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for ZNF408 Gene
- MGI mutant phenotypes for ZNF408:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ZNF408:
Animal Models for ZNF408 Gene
- MGI Knock Outs for ZNF408:
-
- Zfp408 tm1b(EUCOMM)Wtsi
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-
-
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-
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miRNA for ZNF408 Gene
- miRTarBase miRNAs that target ZNF408
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Inhibitory RNA Products
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ZNF408 Gene
Localization for ZNF408 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ZNF408 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| cytoskeleton | 2 |
- Cytosol (2)
- Microtubule organizing center (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 23716654 |
Pathways & Interactions for ZNF408 Gene
No Data Available
Interacting Proteins for ZNF408 Gene
Selected Interacting proteins:
ENSP00000309606
Q9H9D4-ZN408_HUMAN
for ZNF408 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for ZNF408 Gene
Transcripts for ZNF408 Gene
mRNA/cDNA for ZNF408 Gene
- (2) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (121) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ZNF408 Gene
CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZNF408
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Inhibitory RNA Products
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-
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for ZNF408
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ZNF408
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available ZNF408 gene related products
- orf clones - Search results for available ZNF408 gene related products
- Applied Biological Materials Clones for ZNF408
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||
| SP5: | - |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ZNF408 Gene:
ZNF408SOURCE GeneReport for Unigene cluster for ZNF408 Gene:
Hs.656931mRNA 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).
Evidence on tissue expression from TISSUES for ZNF408 Gene
- Lung(4.2)
- Liver(4.1)
- Nervous system(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF408 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- outer ear
- skull
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
- penis
- testicle
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for ZNF408
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Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ZNF408 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | ZNF408 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | ZNF408 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Zfp408 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC100362202 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ZNF408 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ZNF408 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | znf408 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC793421 33 |
|
||
| ZNF408 34 |
|
OneToOne | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7747 33 |
|
- Species where no ortholog for ZNF408 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for ZNF408 Gene
(46) SIMAP similar genes for ZNF408 Gene using alignment to 1 proteins:
- ZNF
- ZNF709
- ZNF697
- ZNF844
- ZNF323
- ZNF92
- ZNF589
- ZNF565
- ZNF558
- ZNF419
- ZNF37A
- ZNF157
- ZNF75A
- ZNF702P
- ZNF561
- ZNF345
- ZNF32
- ZNF582
- ZNF564
- ZNF426
- ZNF416
- ZNF664
- ZNF585B
- ZNF566
- ZNF524
- ZNF501
- ZNF286A
- ZFP82
- GFI1B
- ZNF672
- ZNF587
- ZNF527
- ZNF137P
- ZFP3
- KIAA1829
- ZNF696
- ZNF682
- ZNF627
- ZNF625
- ZNF563
- ZNF80
- ZNF70
- ZNF670
- ZNF669
- ZNF514
- ZNF101
Variants for ZNF408 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs373273223 | pathogenic, Exudative vitreoretinopathy 6, Vitreoretinopathy, exudative 6 (EVR6) [MIM:616468] | 46,705,063(+) | C/T | coding_sequence_variant, missense_variant | |
| rs536561101 | uncertain-significance, Exudative vitreoretinopathy 6, Vitreoretinopathy, exudative 6 (EVR6) [MIM:616468] | 46,702,750(+) | G/A | coding_sequence_variant, missense_variant | |
| rs547169524 | uncertain-significance, Exudative vitreoretinopathy 1 | 46,705,550(+) | C/A | coding_sequence_variant, missense_variant | |
| rs561320549 | uncertain-significance, Exudative vitreoretinopathy 1 | 46,702,993(+) | A/G | coding_sequence_variant, synonymous_variant | |
| rs781192528 | pathogenic, Retinitis pigmentosa 72, Retinitis pigmentosa 72 (RP72) [MIM:616469] | 46,705,321(+) | C/T | coding_sequence_variant, missense_variant |
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)
Additional Variant Information for ZNF408 Gene
SNP Genotyping and Copy Number Assay Products
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
(5) MalaCards diseases for ZNF408 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| exudative vitreoretinopathy 6 |
|
|
| retinitis pigmentosa 72 |
|
|
| exudative vitreoretinopathy |
|
|
| retinitis pigmentosa |
|
|
| retinal vascular disease |
|
|
Search ZNF408 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for ZNF408
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ZNF408 Gene
Publications for ZNF408 Gene
- 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 (Human molecular genetics 2015) 3 4 58
- ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. (PMID: 23716654) Collin RW … Cremers FP (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58
- Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. (PMID: 19801982) Rivadeneira F … Genetic Factors for Osteoporosis (GEFOS) Consortium (Nature genetics 2009) 3 44 58
- A protein interaction framework for human mRNA degradation. (PMID: 15231747) Lehner B … Sanderson CM (Genome research 2004) 2 3 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
Products for ZNF408 Gene
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- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
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Sources for ZNF408 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
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- (47) Atlas
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