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	57592
Gene name	Zinc finger protein 687
Gene symbol	ZNF687
Synonyms (NCBI Gene)	PDB6
Chromosome	1
Chromosome location	1q21.3
Summary	This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs148402804	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs869025582	G>T	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (92)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051985	hsa-let-7b-5p	CLASH	23622248
MIRT049844	hsa-miR-92a-3p	CLASH	23622248
MIRT049844	hsa-miR-92a-3p	CLASH	23622248
MIRT047954	hsa-miR-30c-5p	CLASH	23622248
MIRT040423	hsa-miR-615-3p	CLASH	23622248
MIRT036906	hsa-miR-877-3p	CLASH	23622248
MIRT036351	hsa-miR-1229-3p	CLASH	23622248
MIRT1535643	hsa-miR-103a	CLIP-seq
MIRT1535644	hsa-miR-107	CLIP-seq
MIRT1535645	hsa-miR-1184	CLIP-seq
MIRT1535646	hsa-miR-1205	CLIP-seq
MIRT1535647	hsa-miR-1224-3p	CLIP-seq
MIRT1535648	hsa-miR-125a-5p	CLIP-seq
MIRT1535649	hsa-miR-125b	CLIP-seq
MIRT1535650	hsa-miR-1260	CLIP-seq
MIRT1535651	hsa-miR-1260b	CLIP-seq
MIRT1535652	hsa-miR-1270	CLIP-seq
MIRT1535653	hsa-miR-1280	CLIP-seq
MIRT1535654	hsa-miR-185	CLIP-seq
MIRT1535655	hsa-miR-1909	CLIP-seq
MIRT1535656	hsa-miR-1910	CLIP-seq
MIRT1535657	hsa-miR-214	CLIP-seq
MIRT1535658	hsa-miR-219-1-3p	CLIP-seq
MIRT1535659	hsa-miR-3158-5p	CLIP-seq
MIRT1535660	hsa-miR-3162-3p	CLIP-seq
MIRT1535661	hsa-miR-3163	CLIP-seq
MIRT1535662	hsa-miR-3170	CLIP-seq
MIRT1535663	hsa-miR-3174	CLIP-seq
MIRT1535664	hsa-miR-361-3p	CLIP-seq
MIRT1535665	hsa-miR-3619-5p	CLIP-seq
MIRT1535666	hsa-miR-3667-3p	CLIP-seq
MIRT1535667	hsa-miR-4259	CLIP-seq
MIRT1535668	hsa-miR-4278	CLIP-seq
MIRT1535669	hsa-miR-4282	CLIP-seq
MIRT1535670	hsa-miR-4306	CLIP-seq
MIRT1535671	hsa-miR-4319	CLIP-seq
MIRT1535672	hsa-miR-4418	CLIP-seq
MIRT1535673	hsa-miR-4421	CLIP-seq
MIRT1535674	hsa-miR-4531	CLIP-seq
MIRT1535675	hsa-miR-455-3p	CLIP-seq
MIRT1535676	hsa-miR-4644	CLIP-seq
MIRT1535677	hsa-miR-4658	CLIP-seq
MIRT1535678	hsa-miR-4716-3p	CLIP-seq
MIRT1535679	hsa-miR-4722-5p	CLIP-seq
MIRT1535680	hsa-miR-4732-3p	CLIP-seq
MIRT1535681	hsa-miR-4758-5p	CLIP-seq
MIRT1535682	hsa-miR-4778-3p	CLIP-seq
MIRT1535683	hsa-miR-509-3-5p	CLIP-seq
MIRT1535684	hsa-miR-509-5p	CLIP-seq
MIRT1535685	hsa-miR-532-3p	CLIP-seq
MIRT1535686	hsa-miR-544	CLIP-seq
MIRT1535687	hsa-miR-571	CLIP-seq
MIRT1535688	hsa-miR-620	CLIP-seq
MIRT1535689	hsa-miR-637	CLIP-seq
MIRT1535690	hsa-miR-649	CLIP-seq
MIRT1535691	hsa-miR-670	CLIP-seq
MIRT1535692	hsa-miR-761	CLIP-seq
MIRT1535646	hsa-miR-1205	CLIP-seq
MIRT1535647	hsa-miR-1224-3p	CLIP-seq
MIRT1535650	hsa-miR-1260	CLIP-seq
MIRT1535651	hsa-miR-1260b	CLIP-seq
MIRT1535653	hsa-miR-1280	CLIP-seq
MIRT1535655	hsa-miR-1909	CLIP-seq
MIRT1535658	hsa-miR-219-1-3p	CLIP-seq
MIRT2161781	hsa-miR-3147	CLIP-seq
MIRT1535662	hsa-miR-3170	CLIP-seq
MIRT1535663	hsa-miR-3174	CLIP-seq
MIRT1535664	hsa-miR-361-3p	CLIP-seq
MIRT1535667	hsa-miR-4259	CLIP-seq
MIRT1535668	hsa-miR-4278	CLIP-seq
MIRT1535672	hsa-miR-4418	CLIP-seq
MIRT1535673	hsa-miR-4421	CLIP-seq
MIRT1535677	hsa-miR-4658	CLIP-seq
MIRT2161782	hsa-miR-4690-5p	CLIP-seq
MIRT1535678	hsa-miR-4716-3p	CLIP-seq
MIRT1535681	hsa-miR-4758-5p	CLIP-seq
MIRT1535683	hsa-miR-509-3-5p	CLIP-seq
MIRT1535684	hsa-miR-509-5p	CLIP-seq
MIRT1535685	hsa-miR-532-3p	CLIP-seq
MIRT1535687	hsa-miR-571	CLIP-seq
MIRT1535689	hsa-miR-637	CLIP-seq
MIRT1535690	hsa-miR-649	CLIP-seq
MIRT1535646	hsa-miR-1205	CLIP-seq
MIRT1535655	hsa-miR-1909	CLIP-seq
MIRT1535663	hsa-miR-3174	CLIP-seq
MIRT1535668	hsa-miR-4278	CLIP-seq
MIRT1535672	hsa-miR-4418	CLIP-seq
MIRT1535677	hsa-miR-4658	CLIP-seq
MIRT1535678	hsa-miR-4716-3p	CLIP-seq
MIRT1535681	hsa-miR-4758-5p	CLIP-seq
MIRT1535683	hsa-miR-509-3-5p	CLIP-seq
MIRT1535684	hsa-miR-509-5p	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	34673265
GO:0005515	Function	Protein binding	IPI	26496610, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
610568	29277	ENSG00000143373

Q8N1G0

Protein name

Zinc finger protein 687

Protein function

May be involved in transcriptional regulation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	993 → 1016	Zinc finger, C2H2 type	Domain
PF16622	zf-C2H2_11	1131 → 1159	zinc-finger C2H2-type	Domain
PF00096	zf-C2H2	1200 → 1222	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with highest levels in obvary, muscle, blood and lung. {ECO:0000269|PubMed:26849110}.

Sequence

MGDMKTPDFDDLLAAFDIPDIDANEAIHSGPEENEGPGGPGKPEPGVGSESEDTAAASAG
DGPGVPAQASDHGLPPPDISVVSVIVKNTVCPEQSEALAGGSAGDGAQAAGVTKEGPVGP
HRMQNGFGSPEPSLPGTPHSPAPPSGGTWKEKGMEGKTPLDLFAHFGPEPGDHSDPLPPS
APSPTREGALTPPPFPSSFELAQENGPGMQPPVSSPPLGALKQESCSPHHPQVLAQQGSG
SSPKATDIPASASPPPVAGVPFFKQSPGHQSPLASPKVPVCQPLKEEDDDEGPVDKSSPG
SPQSPSSGAEAADEDSNDSPASSSSRPLKVRIKTIKTSCGNITRTVTQVPSDPDPPAPLA
EGAFLAEASLLKLSPATPTSEGPKVVSVQLGDGTRLKGTVLPVATIQNASTAMLMAASVA
RKAVVLPGGTATSPKMIAKNVLGLVPQALPKADGRAGLGTGGQKVNGASVVMVQPSKTAT
GPSTGGGTVISRTQSSLVEAFNKILNSKNLLPAYRPNLSPPAEAGLALPPTGYRCLECGD
AFSLEKSLARHYDRRSMRIEVTCNHCARRLVFFNKCSLLLHAREHKDKGLVMQCSHLVMR
PVALDQMVGQPDITPLLPVAVPPVSGPLALPALGKGEGAITSSAITTVAAEAPVLPLSTE
PPAAPATSAYTCFRCLECKEQCRDKAGMAAHFQQLGPPAPGATSNVCPTCPMMLPNRCSF
SAHQRMHKNRPPHVCPECGGNFLQANFQTHLREACLHVSRRVGYRCPSCSVVFGGVNSIK
SHIQTSHCEVFHKCPICPMAFKSGPSAHAHLYSQHPSFQTQQAKLIYKCAMCDTVFTHKP
LLSSHFDQHLLPQRVSVFKCPSCPLLFAQKRTMLEHLKNTHQSGRLEETAGKGAGGALLT
PKTEPEELAVSQGGAAPATEESSSSSEEEEVPSSPEPPRPAKRPRRELGSKGLKGGGGGP
GGWTCGLCHSWFPERDEYVAHMKKEHGKSVKKFPCRLCERSFCSAPSLRRHVRVNHEGIK
RVYPCRYCTEGKRTFSSRLILEKHVQVRHGLQLGAQSPGRGTTLARGSSARAQGPGRKRR
QSSDSCSEEPDSTTPPAKSPRGGPGSGGHGPLRYRSSSSTEQSLMMGLRVEDGAQQCLDC
GLCFASPGSLSRHRFISHKKRRGVGKASALGLGDGEEEAPPSRSDPDGGDSPLPASGGPL
TCKVCGKSCDSPLNLKTHFRTHGMAFIRARQGAVGDN

Sequence length

1237

Interactions

View interactions

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Paget disease of bone 6	Pathogenic	rs869025582	RCV000208590	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

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.
Thymoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZNF687-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bone Diseases Metabolic	Bone disease	Pubtator	29782529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36944484, 39377570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	36944484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36944484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16858696, 28737756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28737756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28737756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28737756		★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Paget disease of bone	Paget disease	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	22796589, 26849110, 29493781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32106343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PAGET DISEASE OF BONE 6	Paget disease	UNIPROT_DG	26849110		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PAGET DISEASE OF BONE 6	Paget disease	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

ZNF687 (zinc finger protein 687)