1. Gene
  2. AHNAK2 - AHNAK nucleoprotein 2 Gene

AHNAK2 - AHNAK nucleoprotein 2 Gene

中文名称:AHNAK 核蛋白 2

种属: Homo sapiens

同用名: C14orf78

基因 ID: 113146 | 基因类型: protein coding

关于 AHNAK2

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:104,937,253-104,978,374 (from NCBI)

This gene has 4 transcripts (splice variants), 57 orthologues and 2 paralogues. Biased expression in skin (RPKM 54.4), esophagus (RPKM 13.7) and 2 other tissues.

功能概要

该基因编码一个大的核蛋白。编码的蛋白质具有三联结构域结构,具有相对较短的 N 端和较长的 C 端,由大量重复序列隔开。 N 端 PSD-95/Discs-large/ZO-1 (PDZ) 样结构域被认为在稳定同二聚体的形成中发挥作用。编码的蛋白质可能通过与钙通道蛋白结合在钙信号传导中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供,2017 年 4 月]

This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with Calcium Channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

AHNAK2 基因产物(2)

mRNA Protein Name
NM_001350929.2 NP_001337858.1 protein AHNAK2 isoform 2
NM_138420.4 NP_612429.2 protein AHNAK2 isoform 1
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
17185750 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
蛋白主名 其他名称

protein AHNAK2

关联疾病

疾病名称 别名
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Charcot-Marie-Tooth Disease Type 4f

CMT4F

Charcot-Marie-Tooth Disease, Type 4f

Charcot-Marie-Tooth Disease 4f

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f

Charcot-Marie-Tooth Neuropathy Type 4f

Dejerine-Sottas Disease

Developmental And Epileptic Encephalopathy 66

DEE66

Epileptic Encephalopathy, Early Infantile, 66

Eiee66

Developmental And Epileptic Encephalopathy, 66

Early Infantile Epileptic Encephalopathy 66

Encephalopathy, Epileptic, Early Infantile, Type 66

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

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
Rattus norvegicus AHNAK2 RGD RGD:1309696
Macaca mulatta AHNAK2 VGNC VGNC:107992
Bos taurus AHNAK2 VGNC VGNC:55891
Mus musculus AHNAK2 MGD MGI:2144831