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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	146434
Gene name	Zinc finger protein 597
Gene symbol	ZNF597
Synonyms (NCBI Gene)	HIT-4
Chromosome	16
Chromosome location	16p13.3
Summary	This gene encodes a protein with multiple zinc finger domains. Loss of the related gene in rodents results in defects in neural development and embryonic lethality in mutant homozygotes. This gene is adjacent to a differentially methylated region (DMR) an

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018782	hsa-miR-335-5p	Microarray	18185580
MIRT711103	hsa-miR-181a-5p	HITS-CLIP	19536157
MIRT711102	hsa-miR-181b-5p	HITS-CLIP	19536157
MIRT711101	hsa-miR-181c-5p	HITS-CLIP	19536157
MIRT711100	hsa-miR-181d-5p	HITS-CLIP	19536157
MIRT711099	hsa-miR-4262	HITS-CLIP	19536157
MIRT711098	hsa-miR-302a-5p	HITS-CLIP	19536157
MIRT711097	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT439194	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439192	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439194	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726031	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726029	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726030	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726028	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439192	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT711103	hsa-miR-181a-5p	HITS-CLIP	19536157
MIRT711102	hsa-miR-181b-5p	HITS-CLIP	19536157
MIRT711101	hsa-miR-181c-5p	HITS-CLIP	19536157
MIRT711100	hsa-miR-181d-5p	HITS-CLIP	19536157
MIRT711099	hsa-miR-4262	HITS-CLIP	19536157
MIRT711098	hsa-miR-302a-5p	HITS-CLIP	19536157
MIRT711097	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT2160605	hsa-miR-101	CLIP-seq
MIRT2160606	hsa-miR-128	CLIP-seq
MIRT2160607	hsa-miR-144	CLIP-seq
MIRT2160608	hsa-miR-24	CLIP-seq
MIRT2160609	hsa-miR-27a	CLIP-seq
MIRT2160610	hsa-miR-27b	CLIP-seq
MIRT2160611	hsa-miR-3613-5p	CLIP-seq
MIRT2160612	hsa-miR-4284	CLIP-seq
MIRT2160613	hsa-miR-4682	CLIP-seq
MIRT2672005	hsa-miR-1290	CLIP-seq
MIRT2672006	hsa-miR-218	CLIP-seq
MIRT2672007	hsa-miR-3162-3p	CLIP-seq
MIRT2672008	hsa-miR-3163	CLIP-seq
MIRT2672009	hsa-miR-324-5p	CLIP-seq
MIRT2672010	hsa-miR-340	CLIP-seq
MIRT2672011	hsa-miR-3662	CLIP-seq
MIRT2672012	hsa-miR-3688-3p	CLIP-seq
MIRT2672013	hsa-miR-4462	CLIP-seq
MIRT2672014	hsa-miR-450b-5p	CLIP-seq
MIRT2672015	hsa-miR-4694-3p	CLIP-seq
MIRT2672016	hsa-miR-507	CLIP-seq
MIRT2672017	hsa-miR-557	CLIP-seq

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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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
614685	26573	ENSG00000167981

Q96LX8

Protein name

Zinc finger protein 597

Protein function

May be involved in transcriptional regulation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01352	KRAB	13 → 54	KRAB box	Family
PF00096	zf-C2H2	156 → 178	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	184 → 206	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	212 → 234	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	341 → 363	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	397 → 419	Zinc finger, C2H2 type	Domain

Sequence

MASMPPTPEAQGPILFEDLAVYFSQEECVTLHPAQRSLSKDGTKESLEDAALMGEEGKPE
INQQLSLESMELDELALEKYPIAAPLVPYPEKSSEDGVGNPEAKILSGTPTYKRRVISLL
VTIENHTPLVELSEYLGTNTLSEILDSPWEGAKNVYKCPECDQNFSDHSYLVLHQKIHSG
EKKHKCGDCGKIFNHRANLRTHRRIHTGEKPYKCAKCSASFRQHSHLSRHMNSHVKEKPY
TCSICGRGFMWLPGLAQHQKSHSAENTYESTNCDKHFNEKPNLALPEETFVSGPQYQHTK
CMKSFRQSLYPALSEKSHDEDSERCSDDGDNFFSFSKFKPLQCPDCDMTFPCFSELISHQ
NIHTEERPHKCKTCEESFALDSELACHQKSHMLAEPFKCTVCGKTFKSNLHLITHKRTHI
KNTT

Sequence length

424

Interactions

View interactions

	Reactome
			Generic Transcription Pathway

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Chromosome 16 uniparental disomy	Stimulate	32576657	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Associate	32576657	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	32576657	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia 16	Associate	30242100	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia 16	Stimulate	32576657	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Associate	32576657	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Associate	28864461	★★★★★ ★☆☆☆☆ Found in Text Mining only
Silver Russell Syndrome	Associate	32576657	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uniparental Disomy	Associate	28864461	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uniparental disomy of chromosome 2	Associate	28864461	★★★★★ ★☆☆☆☆ Found in Text Mining only

ZNF597 (zinc finger protein 597)