ANKLE2 - ankyrin repeat and LEM domain containing 2 Gene

中文名称：含锚蛋白重复和 LEM 结构域 2

种属: Homo sapiens

同用名: Lem4; LEMD7; MCPH16; KIAA0692

基因 ID: 23141 | 基因类型: protein coding

关于 ANKLE2

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:132,725,503-132,761,832 (from NCBI)

This gene has 12 transcripts (splice variants), 222 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 31.1), lymph node (RPKM 13.1) and 25 other tissues.

功能概要

该基因编码内核膜蛋白 LEM 家族的成员。编码的蛋白质通过核膜的有丝分裂后形成起到有丝分裂调节剂的作用。该基因的突变会导致核膜的形态缺陷和 BAF 过度磷酸化。[RefSeq 提供，2014 年 3 月]

This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]

ANKLE2 基因产物(1)

mRNA	Protein	Name
NM_015114.3	NP_055929.1	ankyrin repeat and LEM domain-containing protein 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	22770216	GOA
enables protein phosphatase 2A binding	IDA IDA: 通过直接分析推断	22770216	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in central nervous system development	IDA IDA: 通过直接分析推断	25259927	GOA
involved in mitotic nuclear membrane reassembly	IMP IMP: 通过突变表型推断	22770216	GOA
involved in negative regulation of apoptotic process	IDA IDA: 通过直接分析推断	25259927	GOA
involved in negative regulation of phosphorylation	IDA IDA: 通过直接分析推断	22770216	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	22770216	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

ANKLE2 蛋白结构

LEM

Ank_3

0
200
400
600
800
938 a.a.

蛋白主名

其他名称

ankyrin repeat and LEM domain-containing protein 2

LEM domain containing 7

ANKLE2 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
种属间	ANKLE2	Q86XL3	vrk-1	Caenorhabditis elegans	Q19848	Pull Down	22770216

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

Microcephaly 16, Primary, Autosomal Recessive

MCPH16

Primary Autosomal Recessive Microcephaly 16

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy	Vanishing White Matter Disease
Ovarioleukodystrophy	Vanishing White Matter Leukodystrophy
Childhood Ataxia With Central Nervous System Hypomyelinization	Cach
Cach Syndrome	Myelinosis Centralis Diffusa
VWM	Cle
Childhood Ataxia With Central Nervous System Hypomyelination	Childhood Ataxia With Diffuse Central Nervous System Hypomyelination
Cach/Vwm	Cach/Vwm Syndrome
Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter	Cree Leukoencehalopathy
Late Infantile Cach Syndrome	Juvenile Or Adult Cach Syndrome
Congenital Or Early Infantile Cach Syndrome	Leukodystrophy With Vanishing White Matter

Hypotonia

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Microcephaly 10, Primary, Autosomal Recessive

MCPH10	Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Primary Autosomal Recessive Microcephaly 10	Microcephalic Primordial Dwarfism, Walsh Type
Microcephaly, Type 10, Primary, Autosomal Recessive

Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities

Microcephaly 15, Primary, Autosomal Recessive	NEDMISBA
Mcph15	Primary Autosomal Recessive Microcephaly 15
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities

Microcephaly 19, Primary, Autosomal Recessive

MCPH19	Primary Autosomal Recessive Microcephaly 19
Microcephaly, Type 19, Primary, Autosomal Recessive

Microcephaly 13, Primary, Autosomal Recessive

MCPH13	Primary Autosomal Recessive Microcephaly 13
Microcephaly, Type 13, Primary, Autosomal Recessive

Microcephaly 18, Primary, Autosomal Dominant

MCPH18

Primary Autosomal Dominant Microcephaly 18

Microcephaly 11, Primary, Autosomal Recessive

MCPH11	Primary Autosomal Recessive Microcephaly 11
Microcephaly, Type 11, Primary, Autosomal Recessive

Microcephaly 17, Primary, Autosomal Recessive

MCPH17

Primary Autosomal Recessive Microcephaly 17

Microcephaly 14, Primary, Autosomal Recessive

MCPH14	Primary Autosomal Recessive Microcephaly 14
Microcephaly, Type 14, Primary, Autosomal Recessive

Chromosome 16p11.2 Duplication Syndrome

Proximal 16p11.2 Microduplication Syndrome	Proximal Dup(16)(P11.2)
Proximal Trisomy 16p11.2	Autism, Susceptibility To, 14b
Autism 14b

Microcephaly 5, Primary, Autosomal Recessive

MCPH5	Primary Autosomal Recessive Microcephaly 5
Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern	Microcephaly, Primary Autosomal Recessive, 5

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00710	ANKLE2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	ANKLE2	VGNC	VGNC:108287
Mus musculus	ANKLE2	MGD	MGI:1261856
Canis familiaris	ANKLE2	VGNC	VGNC:37876
Rattus norvegicus	ANKLE2	RGD	RGD:1310191
Bos taurus	ANKLE2	VGNC	VGNC:25904
Felis catus	ANKLE2	VGNC	VGNC:59792

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