ZNF668 (zinc finger protein 668)

Gene

• Entrez ID: 79759
• Gene name: Zinc finger protein 668
• Gene symbol: ZNF668
• Synonyms (NCBI Gene): NEDGEF
• Chromosome: 16
• Chromosome location: 16p11.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047905	hsa-miR-30c-5p	CLASH	23622248
MIRT1534505	hsa-miR-4305	CLIP-seq
MIRT1534506	hsa-miR-4704-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006281	Process	DNA repair	IMP	34313816
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 617103
• HGNC: 25821
• e!Ensembl: ENSG00000167394

Protein

• UniProt ID: Q96K58
• Protein name: Zinc finger protein 668
• Protein function: May be involved in transcriptional regulation. May play a role in DNA repair process.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	84 → 106	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	112 → 134	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	140 → 162	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	168 → 190	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	224 → 246	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	252 → 274	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	280 → 302	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	308 → 330	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	336 → 358	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	364 → 386	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	392 → 414	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	516 → 538	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	544 → 566	Zinc finger, C2H2 type	Domain
  PF13894	zf-C2H2_4	572 → 595		Domain

• Sequence:

  MEVEAAEARSPAPGYKRSGRRYKCVSCTKTFPNAPRAARHAATHGPADCSEEVAEVKPKP
  ETEAKAEEASGEKVSGSAAKPRPYACPLCPKAYKTAPELRSHGRSHTGEKPFPCPECGRR
  FMQPVCLRVHLASHAGELPFRCAHCPKAYGALSKLKIHQRGHTGERPYACADCGKSFADP
  SVFRKHRRTHAGLRPYSCERCGKAYAELKDLRNHERSHTGERPFLCSECGKSFSRSSSLT
  CHQRIHAAQKPYRCPACGKGFTQLSSYQSHERTHSGEKPFLCPRCGRMFSDPSSFRRHQR
  AHEGVKPYHCEKCGKDFRQPADLAMHRRVHTGDRPFKCLQCDKTFVASWDLKRHALVHSG
  QRPFRCEECGRAFAERASLTKHSRVHSGERPFHCNACGKSFVVSSSLRKHERTHRSSEAA
  GVPPAQELVVGLALPVGVAGESSAAPAAGAGLGDPPAGLLGLPPESGGVMATQWQVVGMT
  VEHVECQDAGVREAPGPLEGAGEAGGEEADEKPPQFVCRECKETFSTMTLLRRHERSHPE
  LRPFPCTQCGKSFSDRAGLRKHSRTHSSVRPYTCPHCPKAFLSASDLRKHERTHPVPMGT
  PTPLEPLVALLGMPEEGPA

• Sequence length: 619

Pathways

Reactome:

Generic Transcription Pathway

Associated diseases

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Failure to thrive	Pathogenic	rs1178162893, rs2143756208	RCV001542807 RCV001542806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
marked facial dysmorphism	Pathogenic	rs1178162893, rs2143756208	RCV001542807 RCV001542806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies	Pathogenic	rs1178162893, rs2143756208	RCV003222336 RCV003222335	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Profound global developmental delay	Pathogenic	rs1178162893, rs2143756208	RCV001542807 RCV001542806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive microcephaly	Pathogenic	rs1178162893, rs2143756208	RCV001542807 RCV001542806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe short-limb dwarfism	Pathogenic	rs2143756208	RCV001844298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBACEOUS GLAND DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZNF668-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anaplastic Ependymoma	Anaplastic Ependymoma	CTD_human_DG	26075792		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21852383		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21852383, 37240013	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23777805	Associate	★☆☆☆☆ Found in Text Mining only
Cellular Ependymoma	Ependymoma	CTD_human_DG	26075792		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	CTD_human_DG	26075792		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21852383		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21852383		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21343389	Associate	★☆☆☆☆ Found in Text Mining only
Myxopapillary ependymoma	Myxopapillary Ependymoma	CTD_human_DG	26075792		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21852383		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29556277		★☆☆☆☆ Found in Text Mining only
Papillary ependymoma	Papillary Ependymoma	CTD_human_DG	26075792		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37240013	Associate	★☆☆☆☆ Found in Text Mining only