ZNF687 - zinc finger protein 687 Gene

Homo sapiens

Also known as PDB6

Gene ID: 57592 | Gene type: protein coding

About ZNF687

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:151,281,522-151,292,176 (from NCBI)

This gene has 7 transcripts (splice variants), 272 orthologues, 51 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 9.1), testis (RPKM 7.2) and 25 other tissues.

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 by RefSeq, Sep 2016]

ZNF687 Products(3)

mRNA	Protein	Name
NM_001304763.2	NP_001291692.1	zinc finger protein 687
NM_001304764.2	NP_001291693.1	zinc finger protein 687
NM_020832.3	NP_065883.1	zinc finger protein 687

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26496610	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ZNF687 Protein Structure

zf-C2H2_4

zf-C2H2

0
200
400
600
800
1000
1237 a.a.

Protein Preferred Names

Protein Names

zinc finger protein 687

ZNF687 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ZNF687	Q8N1G0	TSPYL2	Homo sapiens	Q9H2G4	Anti Tag CoIP	26496610
Intra	ZNF687	Q8N1G0	TSPYL2	Homo sapiens	Q9H2G4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Paget Disease Of Bone 6

PDB6	Paget Disease Of Bone, Type 6

Malignant Giant Cell Tumor

Malignant Tumor, Giant Cell Type

Malignant Giant Cell Neoplasm

Intellectual Developmental Disorder, Autosomal Dominant 43

MRD43	Autosomal Dominant Non-Syndromic Intellectual Disability 43
Autosomal Dominant Intellectual Developmental Disorder 43	Autosomal Dominant Mental Retardation 43

Familial Expansile Osteolysis

FEO	Mccabe Disease
Osteolysis, Familial Expansile	Polyostotic Osteolytic Dysplasia, Hereditary Expansile
Hepod	Expansile Osteolysis, Familial
Eof	Hereditary Expansile Polyostotic Osteolytic Dysplasia

Paget'S Disease Of Bone

Osteitis Deformans	Paget Disease Of Bone
Osseous Paget'S Disease	Paget Disease Of Bone, Familial
Bone Paget Disease	Familial Paget'S Disease Of Bone
Paget'S Bone Disease	Familial Paget Disease Of Bone
Paget Disease, Bone	Pdb
Pagets Bone Disease

Chromosome 10q23 Deletion Syndrome

Macular Dystrophy, Patterned, 2

Patterned Macular Dystrophy 2	MDPT2
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2	Butterfly-Shaped Pigmentary Maculary Dystrophy 2

Ritscher-Schinzel Syndrome 2

RTSC2

Bone Giant Cell Tumor

Giant Cell Tumor Of Bone	Osteoclastoma
Gct Of Bone	Bone Giant Cell Tumour
Giant Cell Myeloma	Giant Cell Neoplasm Of Bone
Giant Cell Tumour Of Bone

Cenani-Lenz Syndactyly Syndrome

Syndactyly Type 7	Cenani Syndactylism
Cenani-Lenz Syndactyly	CLSS
Syndactyly Cenani Lenz Type	Cenani-Lenz Syndrome
Syndactyly, Type Vii	Cenani-Lenz Type Syndactyly
Cenani Syndactyly	Syndactyly Type Vii

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16165	ZNF687 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ZNF687	VGNC	VGNC:37328
Rattus norvegicus	ZNF687	RGD	RGD:2323182
Felis catus	ZNF687	VGNC	VGNC:67350
Macaca mulatta	ZNF687	VGNC	VGNC:79795
Canis familiaris	ZNF687	VGNC	VGNC:48795
Mus musculus	ZNF687	MGD	MGI:1925516

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