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  2. ZNF687 - zinc finger protein 687 Gene

ZNF687 - zinc finger protein 687 Gene

中文名称:锌指蛋白 687

种属: Homo sapiens

同用名: PDB6

基因 ID: 57592 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 C2H2 锌指蛋白。编码的蛋白质可能在骨骼分化和发育中发挥作用。该基因的突变是导致骨 6 佩吉特病的原因。交替剪接导致多个转录本变体。[RefSeq 提供,2016 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
26496610 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ZNF687 蛋白结构

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)

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  • 1237 a.a.
蛋白主名 其他名称

zinc finger protein 687

ZNF687 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra ZNF687 Q8N1G0 TSPYL2 Homo sapiens Q9H2G4
Anti Tag CoIP
26496610
Intra ZNF687 Q8N1G0 TSPYL2 Homo sapiens Q9H2G4
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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