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Aliases for ZNF687 Gene

Aliases for ZNF687 Gene

  • Zinc Finger Protein 687 2 3 3 5
  • KIAA1441 4
  • PDB6 3

External Ids for ZNF687 Gene

Previous GeneCards Identifiers for ZNF687 Gene

  • GC01P148069
  • GC01P149520
  • GC01P122632

Summaries for ZNF687 Gene

Entrez Gene Summary for ZNF687 Gene

  • 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 by RefSeq, Sep 2016]

GeneCards Summary for ZNF687 Gene

ZNF687 (Zinc Finger Protein 687) is a Protein Coding gene. Diseases associated with ZNF687 include Paget Disease Of Bone 6 and Giant Cell Tumor. An important paralog of this gene is ZNF532.

UniProtKB/Swiss-Prot for ZNF687 Gene

  • May be involved in transcriptional regulation.

Gene Wiki entry for ZNF687 Gene

Additional gene information for ZNF687 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF687 Gene

Genomics for ZNF687 Gene

GeneHancer (GH) Regulatory Elements for ZNF687 Gene

Promoters and enhancers for ZNF687 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J151280 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 682.9 +1.0 1032 3.8 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 ZNF687 LOC100507670 GC01P151282 PIP5K1A SETDB1 ARNT GOLPH3L PRPF3 MRPL9 GABPB2
GH01J150486 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 71.6 -793.9 -793915 1.7 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 TARS2 SETDB1 PIP5K1A PRPF3 SF3B4 PI4KB GABPB2 ZNF687 UBE2D3P3 ARNT
GH01J151068 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 68.1 -211.1 -211069 3.3 CLOCK FEZF1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GABPB2 CDC42SE1 SETDB1 PRPF3 PI4KB PIP5K1A MRPL9 UBE2D3P3 ARNT ZNF687
GH01J150969 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 50.6 -306.6 -306598 10.6 CLOCK MLX ZFP64 DMAP1 YY1 E2F8 ZNF143 SP3 SSRP1 GLIS1 CERS2 ENSG00000231073 PRPF3 SETDB1 ZNF687 HORMAD1 PIP5K1A ARNT GOLPH3L PI4KB
GH01J151164 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 62.2 -115.5 -115506 3.1 CLOCK DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC MEF2D ZNF610 LYSMD1 SCNM1 PRPF3 SETDB1 PI4KB ARNT UBE2D3P3 ZNF687 PIP5K1A CTSK
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF687 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZNF687 gene promoter:
  • E2F-3a
  • Spz1
  • MyoD
  • E2F
  • E2F-1
  • E2F-2
  • E2F-4
  • E2F-5
  • MZF-1

Genomic Locations for ZNF687 Gene

Genomic Locations for ZNF687 Gene
chr1:151,281,555-151,292,180
(GRCh38/hg38)
Size:
10,626 bases
Orientation:
Plus strand
chr1:151,254,094-151,264,656
(GRCh37/hg19)
Size:
10,563 bases
Orientation:
Plus strand

Genomic View for ZNF687 Gene

Genes around ZNF687 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF687 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF687 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF687 Gene

Proteins for ZNF687 Gene

  • Protein details for ZNF687 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1G0-ZN687_HUMAN
    Recommended name:
    Zinc finger protein 687
    Protein Accession:
    Q8N1G0
    Secondary Accessions:
    • D3DV17
    • Q68DQ8
    • Q9H937
    • Q9P2A7

    Protein attributes for ZNF687 Gene

    Size:
    1237 amino acids
    Molecular mass:
    129529 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92679.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14406.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH18162.1; Type=Frameshift; Positions=1062; Evidence={ECO:0000305};

    Alternative splice isoforms for ZNF687 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF687 Gene

Post-translational modifications for ZNF687 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF687 Gene

Domains & Families for ZNF687 Gene

Gene Families for ZNF687 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF687 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF687 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N1G0

UniProtKB/Swiss-Prot:

ZN687_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF687: view

Function for ZNF687 Gene

Molecular function for ZNF687 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Phenotypes From GWAS Catalog for ZNF687 Gene

Gene Ontology (GO) - Molecular Function for ZNF687 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 26496610
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF687: view
genes like me logo Genes that share phenotypes with ZNF687: view

Human Phenotype Ontology for ZNF687 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF687

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF687 Gene

Localization for ZNF687 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF687 Gene

Cytoplasm. Nucleus. Note=Predominantly nuclear. {ECO:0000269 PubMed:26849110}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF687 gene
Compartment Confidence
nucleus 5
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF687 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ZNF687: view

Pathways & Interactions for ZNF687 Gene

SuperPathways for ZNF687 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF687 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with ZNF687: view

No data available for Pathways by source and SIGNOR curated interactions for ZNF687 Gene

Drugs & Compounds for ZNF687 Gene

No Compound Related Data Available

Transcripts for ZNF687 Gene

Unigene Clusters for ZNF687 Gene

Zinc finger protein 687:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF687

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF687 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9
SP1: -
SP2:

Relevant External Links for ZNF687 Gene

GeneLoc Exon Structure for
ZNF687
ECgene alternative splicing isoforms for
ZNF687

Expression for ZNF687 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNF687 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZNF687 Gene

This gene is overexpressed in Placenta (14.3), Peripheral blood mononuclear cells (12.9), Pancreas (9.2), Retina (8.4), and Blymphocyte (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNF687 Gene



Protein tissue co-expression partners for ZNF687 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZNF687 Gene:

ZNF687

SOURCE GeneReport for Unigene cluster for ZNF687 Gene:

Hs.186756

mRNA Expression by UniProt/SwissProt for ZNF687 Gene:

Q8N1G0-ZN687_HUMAN
Tissue specificity: Widely expressed with highest levels in obvary, muscle, blood and lung.

Evidence on tissue expression from TISSUES for ZNF687 Gene

  • Nervous system(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with ZNF687: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF687 Gene

Orthologs for ZNF687 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF687 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNF687 34 33
  • 99.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZNF687 34 33
  • 89.03 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZNF687 34 33
  • 87.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Zfp687 16 34 33
  • 84.93 (n)
rat
(Rattus norvegicus)
Mammalia LOC100363361 33
  • 83.71 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNF687 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 27 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ZNF687 34 33
  • 65.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZNF687 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia znf687 33
  • 65.66 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-204a24.9 33
  • 55.17 (n)
znf687a 34
  • 36 (a)
OneToMany
znf687b 34
  • 34 (a)
OneToMany
Dr.16948 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToMany
Species where no ortholog for ZNF687 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZNF687 Gene

ENSEMBL:
Gene Tree for ZNF687 (if available)
TreeFam:
Gene Tree for ZNF687 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF687: view image

Paralogs for ZNF687 Gene

Paralogs for ZNF687 Gene

(1) SIMAP similar genes for ZNF687 Gene using alignment to 5 proteins:

  • ZN687_HUMAN
  • A2A3Q2_HUMAN
  • A6PVV7_HUMAN
  • F8WCX2_HUMAN
  • H0Y5I5_HUMAN
genes like me logo Genes that share paralogs with ZNF687: view

Variants for ZNF687 Gene

Sequence variations from dbSNP and Humsavar for ZNF687 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs148402804 pathogenic, Paget disease of bone 6, Paget disease of bone 6 (PDB6) [MIM:616833] 151,289,853(+) C/A/G/T coding_sequence_variant, missense_variant
rs869025582 pathogenic, Paget disease of bone 6, Paget disease of bone 6 (PDB6) [MIM:616833] 151,287,016(+) G/T coding_sequence_variant, missense_variant
rs1000179997 -- 151,291,336(+) GAAGAAGAAGA/GAAGAAGA 3_prime_UTR_variant
rs1000187800 -- 151,287,873(+) C/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs1000230908 -- 151,291,651(+) C/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for ZNF687 Gene

Variant ID Type Subtype PubMed ID
dgv2n68 CNV loss 17160897
esv34461 CNV gain 17911159
nsv522840 CNV gain 19592680

Variation tolerance for ZNF687 Gene

Residual Variation Intolerance Score: 20.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.63; 65.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF687 Gene

Human Gene Mutation Database (HGMD)
ZNF687
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF687

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF687 Gene

Disorders for ZNF687 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ZNF687 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
paget disease of bone 6
  • pdb6
giant cell tumor
  • giant cell neoplasm
paget's disease of bone
  • familial paget's disease of bone
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZN687_HUMAN
  • Paget disease of bone 6 (PDB6) [MIM:616833]: An autosomal dominant form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB6 is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone. {ECO:0000269 PubMed:26849110}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ZNF687

genes like me logo Genes that share disorders with ZNF687: view

No data available for Genatlas for ZNF687 Gene

Publications for ZNF687 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. (PMID: 26849110) Divisato G … Gianfrancesco F (American journal of human genetics 2016) 3 4 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ZNF687 Gene

Sources for ZNF687 Gene

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