ZNF408 (zinc finger protein 408)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79797
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger protein 408
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZNF408
Synonyms (NCBI Gene) Gene synonyms aliases
EVR6, PRDM17, RP72
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
Summary Summary of gene provided in NCBI Entrez 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, defe
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs373273223 C>T Pathogenic Missense variant, coding sequence variant
rs774627405 C>T Likely-pathogenic Coding sequence variant, stop gained
rs781192528 C>T Pathogenic Missense variant, coding sequence variant
rs875989821 TG>- Pathogenic Frameshift variant, coding sequence variant
rs966073464 T>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT042778 hsa-miR-339-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 14667819, 15231747, 16189514, 18255255, 19060904, 20211142, 25416956, 25910212, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IDA 23716654, 25882705
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616454 20041 ENSG00000175213
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9H9D4
Protein name Zinc finger protein 408 (PR domain zinc finger protein 17)
Protein function May be involved in transcriptional regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 381 → 403 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 409 → 431 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 437 → 459 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 468 → 490 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 496 → 518 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 551 → 573 Zinc finger, C2H2 type Domain
PF13894 zf-C2H2_4 579 → 602 Domain
PF00096 zf-C2H2 607 → 629 Zinc finger, C2H2 type Domain
Tissue specificity 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 bot
Sequence 
MEEAEELLLEGKKALQLAREPRLGLDLGWNPSGEGCTQGLKDVPPEPTRDILALKSLPRG
LALGPSLAKEQRLGVWCVGDPLQPGLLWGPLEEESASKEKGEGVKPRQEENLSLGPWGDV
CACEQSSGWTSLVQRGRLESEGNVAPVRISERLHLQVYQLVLPGSELLLWPQPSSEGPSL
TQPGLDKEAAVAVVTEVESAVQQEVASPGEDAAEPCIDPGSQSPSGIQAENMVSPGLKFP
TQDRISKDSQPLGPLLQDGDVDEECPAQAQMPPELQSNSATQQDPDGSGASFSSSARGTQ
PHGYLAKKLHSPSDQCPPRAKTPEPGAQQSGFPTLSRSPPGPAGSSPKQGRRYRCGECGK
AFLQLCHLKKHAFVHTGHKPFLCTECGKSYSSEESFKAHMLGHRGVRPFPCPQCDKAYGT
QRDLKEHQVVHSGARPFACDQCGKAFARRPSLRLHRKTHQVPAAPAPCPCPVCGRPLANQ
GSLRNHMRLHTGEKPFLCPHCGRAFRQRGNLRGHLRLHTGERPYRCPHCADAFPQLPELR
RHLISHTGEAHLCPVCGKALRDPHTLRAHERLHSGERPFPCPQCGRAYTLATKLRRHLKS
HLEDKPYRCPTCGMGYTLPQSLRRHQLSHRPEAPCSPPSVPSAASEPTVVLLQAEPQLLD
THREEEVSPARDVVEVTISESQEKCFVVPEEPDAAPSLVLIHKDMGLGAWAEVVEVEMGT
Sequence length 720
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Exudative Vitreoretinopathy familial exudative vitreoretinopathy, exudative vitreoretinopathy 6 rs1425566595, rs373273223 N/A
retinal dystrophy Retinal dystrophy rs781192528, rs373273223 N/A
Retinitis Pigmentosa retinitis pigmentosa 72 rs875989821, rs781192528 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Familial Exudative Vitreoretinopathies Associate 27316669, 34860240, 35918671, 37089697, 37684015
Norrie disease Associate 35328049
Retinitis Pigmentosa Associate 37968604