ZNF687 - zinc finger protein 687 Gene

Also Known as PDB6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57592

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
Molecular Function GO Annotation Evidence References 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_4: C2H2-type zinc finger (858 - 881)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (963 - 986)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (993 - 1016)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (1201 - 1222)

  • 0
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  • 1000
  • 1237 a.a.
Protein Preferred Names Protein Names

zinc finger protein 687

ZNF687 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ZNF687 Q8N1G0 TSPYL2 Homo sapiens Q9H2G4 26496610
Intra
ZNF687 Q8N1G0 TSPYL2 Homo sapiens Q9H2G4 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

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
Others ZNF687 NCBI