Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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

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
rs1425566595	T>A	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042778	hsa-miR-339-5p	CLASH	23622248

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
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0042802	Function	Identical protein binding	IPI	15231747, 18255255, 25416956, 32296183
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
616454	20041	ENSG00000175213

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

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Pathogenic	rs2064733634	RCV001257833
Exudative vitreoretinopathy 6	Likely pathogenic; Pathogenic	rs373273223, rs781192528, rs1565695139	RCV000186509 RCV002492860 RCV001197448
Familial exudative vitreoretinopathy	Pathogenic	rs1425566595	RCV001003294
Retinal dystrophy	Likely pathogenic; Pathogenic	rs373273223, rs781192528, rs1384722572, rs1160126418	RCV004816315 RCV001073959 RCV003889570 RCV003889573
Retinitis pigmentosa 72	Pathogenic; Likely pathogenic	rs875989821, rs781192528	RCV000186511 RCV000186512

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Exudative vitreoretinopathy 1	Uncertain significance; Likely benign	rs796065313, rs796065314, rs796065315, rs561320549, rs796065316, rs547169524, rs796065317	RCV000190407 RCV000190408 RCV000190409 RCV000190410 RCV000190411 RCV000190412 RCV000190413
Sarcoma	Likely benign	rs111794632	RCV005917782
Thyroid cancer, nonmedullary, 1	Likely benign	rs561320549	RCV005888585
ZNF408-related disorder	Uncertain significance; Likely benign; Benign	rs748261520, rs769453151, rs144460540, rs150894525, rs763129315, rs371159153, rs147850078, rs376536252, rs199531284	RCV004758788 RCV003953680 RCV004758799 RCV003938829 RCV003956099 RCV004758864 RCV003962921 RCV004758747 RCV003963206

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Familial Exudative Vitreoretinopathies	Associate	27316669, 34860240, 35918671, 37089697, 37684015
Norrie disease	Associate	35328049
Retinitis Pigmentosa	Associate	37968604

ZNF408 (zinc finger protein 408)