1. Gene
  2. HOMER2 - homer scaffold protein 2 Gene

HOMER2 - homer scaffold protein 2 Gene

中文名称:荷马支架蛋白 2

种属: Homo sapiens

同用名: CPD; ACPD; DFNA68; VESL-2; HOMER-2

基因 ID: 9455 | 基因类型: protein coding

关于 HOMER2

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:82,834,661-82,986,157 (from NCBI)

This gene has 10 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in prostate (RPKM 9.3), pancreas (RPKM 6.8) and 16 other tissues.

功能概要

该基因编码树突状蛋白荷马家族的一个成员。该家族的成员调节第 1 组代谢型谷氨酸受体功能。编码的蛋白质是突触后密度支架蛋白。可变剪接导致多个转录本变体。已在 14 号染色体上鉴定出两个相关的假基因。[RefSeq 提供,2011 年 6 月]

This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011]

HOMER2 基因产物(2)

mRNA Protein Name
NM_004839.4 NP_004830.2 homer protein homolog 2 isoform 1
NM_199330.3 NP_955362.1 homer protein homolog 2 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
18218901 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of calcineurin-NFAT signaling cascade IMP
IMP: 通过突变表型推断
18218901 GOA
involved in negative regulation of interleukin-2 production IMP
IMP: 通过突变表型推断
18218901 GOA
involved in sensory perception of sound IMP
IMP: 通过突变表型推断
25816005 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
25816005 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

HOMER2 蛋白结构

WH1

WH1: WH1 domain (4 - 106)

  • 0
  • 100
  • 200
  • 300
  • 354 a.a.
蛋白主名 其他名称

homer protein homolog 2

cupidin

HOMER2 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 HOMER2 Q9NSB8 RNF41 Homo sapiens Q9H4P4
Validated Y2H
25416956
Intra HOMER2 Q9NSB8 RNF41 Homo sapiens Q9H4P4
Y2H Prey Pooling
25416956
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
Deafness, Autosomal Dominant 68

DFNA68

Autosomal Dominant Nonsyndromic Deafness 68

Autosomal Dominant Deafness 68

Deafness, Autosomal Dominant, 68

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Deafness, Autosomal Recessive 104

DFNB104

Autosomal Recessive Nonsyndromic Deafness 104

Autosomal Recessive Deafness 104

Deafness, Autosomal Recessive, 104

Deafness, Autosomal Recessive, Type 104

Achilles Bursitis

Achilles Bursitis Or Tendinitis

Capped Hock

Haglund'S Deformity

Haglund'S Disease

Osteochondritis Of The Talus

Deafness, Autosomal Dominant 67

DFNA67

Autosomal Dominant Nonsyndromic Deafness 67

Autosomal Dominant Deafness 67

Deafness, Autosomal Dominant, 67

Deafness, Autosomal Dominant, Type 67

Diamond-Blackfan Anemia 4

DBA4

Rps17-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 4

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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
Macaca mulatta HOMER2 VGNC VGNC:73406
Bos taurus HOMER2 VGNC VGNC:29902
Mus musculus HOMER2 MGD MGI:1347354
Felis catus HOMER2 VGNC VGNC:62831
Rattus norvegicus HOMER2 RGD RGD:620705