ZNF408 (zinc finger protein 408)

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Gene Gene information from NCBI Gene database.
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Entrez ID 79797
Gene name Zinc finger protein 408
Gene symbol ZNF408
Synonyms (NCBI Gene)
EVR6PRDM17RP72
Chromosome 11
Chromosome location 11p11.2
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, defe
SNPs SNP information provided by dbSNP.
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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.
1
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miRTarBase ID miRNA Experiments Reference
MIRT042778 hsa-miR-339-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
616454 20041 ENSG00000175213
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 496 → 518 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 468 → 490 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 437 → 459 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 381 → 403 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 607 → 629 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 409 → 431 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 551 → 573 Zinc finger, C2H2 type Domain
PF13894 zf-C2H2_4 579 → 602 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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal recessive retinitis pigmentosa Pathogenic rs2064733634 RCV001257833
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exudative vitreoretinopathy 6 Likely pathogenic; Pathogenic rs373273223, rs781192528, rs1565695139 RCV000186509
RCV002492860
RCV001197448
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial exudative vitreoretinopathy Pathogenic rs1425566595 RCV001003294
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy Likely pathogenic; Pathogenic rs373273223, rs781192528, rs1384722572, rs1160126418 RCV004816315
RCV001073959
RCV003889570
RCV003889573
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 72 Pathogenic; Likely pathogenic rs875989821, rs781192528 RCV000186511
RCV000186512
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (9)
Phenotype Name Clinical Significance Source Reference Evidence Score
EXUDATIVE VITREORETINOPATHY — GWAS catalog 23716659
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Exudative vitreoretinopathy 1 Uncertain significance; Likely benign ClinVar
Disgenet 		—
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
OPTIC ATROPHY — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA — Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet 		25882705, 25882705
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1 — CTD —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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TSPAN12 2 shared diseasesOptic atrophy, Exudative vitreoretinopathy 6 shared evidence sourcesDisgenet (Optic atrophy), GWAS catalog (Exudative vitreoretinopathy), Disgenet (Exudative vitreoretinopathy), CTD (Exudative vitreoretinopathy), ClinVar (Exudative vitreoretinopathy), HPO (Exudative vitreoretinopathy) Related via 2 shared diseases including Optic atrophy, Exudative vitreoretinopathy — evidence mostly Disgenet. IDH3B 1 shared diseaseOptic atrophy 6 shared evidence sourcesDisgenet (Optic atrophy), Disgenet (Retinitis pigmentosa), GWAS catalog (Retinitis pigmentosa), Orphanet (Retinitis pigmentosa), ClinVar (Retinitis pigmentosa), HPO (Retinitis pigmentosa) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet. ARHGEF18 1 shared diseaseOptic atrophy 6 shared evidence sourcesDisgenet (Optic atrophy), Disgenet (Retinitis pigmentosa), GWAS catalog (Retinitis pigmentosa), Orphanet (Retinitis pigmentosa), ClinVar (Retinitis pigmentosa), HPO (Retinitis pigmentosa) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet. ROM1 1 shared diseaseOptic atrophy 6 shared evidence sourcesDisgenet (Optic atrophy), Disgenet (Retinitis pigmentosa), GWAS catalog (Retinitis pigmentosa), Orphanet (Retinitis pigmentosa), ClinVar (Retinitis pigmentosa), HPO (Retinitis pigmentosa) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet. SLC7A14 1 shared diseaseOptic atrophy 5 shared evidence sourcesDisgenet (Optic atrophy), Disgenet (Retinitis pigmentosa), Orphanet (Retinitis pigmentosa), ClinVar (Retinitis pigmentosa), HPO (Retinitis pigmentosa) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet.
Gestational diabetes Linked via 1 of 5 related genesTSPAN12 Iga nephropathy Linked via 1 of 5 related genesTSPAN12 Migraine Linked via 1 of 5 related genesTSPAN12 Uterine fibroid Linked via 1 of 5 related genesTSPAN12 Vitreoretinal degeneration Linked via 1 of 5 related genesTSPAN12