2. Gene
  3. LIM2 - lens intrinsic membrane protein 2 Gene

LIM2 - lens intrinsic membrane protein 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：晶状体固有膜蛋白 2

种属: Homo sapiens

同用名: MP17; MP19; CTRCT19

基因 ID: 3982 | 基因类型: protein coding

关于 LIM2

Cytogenetic location: 19q13.41 Genomic coordinates (GRCh38): 19:51,379,909-51,387,974 (from NCBI)

This gene has 2 transcripts (splice variants), 244 orthologues, 10 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码一种在晶状体纤维细胞连接处发现的眼睛晶状体特异性蛋白质，它可能有助于细胞连接组织。它作为钙调蛋白的受体，可能在晶状体发育和白内障发生中发挥重要作用。该基因的突变与白内障的形成有关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2009 年 9 月]

This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for Calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

LIM2 基因产物(2)

mRNA Protein Name
NM_001161748.2 NP_001155220.1 lens fiber membrane intrinsic protein isoform 2
NM_030657.4 NP_085915.2 lens fiber membrane intrinsic protein isoform 1

LIM2 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (1 - 157)

  • 0
  • 100
  • 173 a.a.
蛋白主名 其他名称

lens fiber membrane intrinsic protein

MP18

关联疾病

疾病名称 别名
Cataract 19, Multiple Types

CTRCT19

Cataract 19 Multiple Types

Cataract, Multiple Types 19

Cataract 19
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44
Retinitis Pigmentosa 50

RP50

Retinitis Pigmentosa, Concentric

Retinitis Pigmentosa-50

Retinitis Pigmentosa Concentric
Scapuloperoneal Myopathy
Myopathy, X-Linked, With Postural Muscle Atrophy

Emery-Dreifuss Muscular Dystrophy 6, X-Linked

XMPMA

X-Linked Myopathy With Postural Muscle Atrophy

X-Linked Emery-Dreifuss Muscular Dystrophy 6

EDMD6

Emd6
Galactosemia Ii

Galactokinase Deficiency

Galk Deficiency

Galactokinase Deficiency With Cataracts

Deficiency Of Galactokinase

GALAC2

Galk-D

Galactokinase Deficiency Galactosemia

Galactosemia 2

Galactosemia Type 2

Hereditary Galactokinase Deficiency

Galactokinase Deficiency, Cataract

Galactosemias

Galk - [Galactokinase Deficiency]
Deafness, Autosomal Dominant 7

DFNA7

Autosomal Dominant Nonsyndromic Deafness 7

Autosomal Dominant Deafness 7

Deafness, Autosomal Dominant, 7

Deafness, Autosomal Dominant, Type 7
Cataract 28

CTRCT28

Cataract, Age-Related Cortical, 1

Arcc1

Cataract 28, Age-Related Cortical, Susceptibility To

Cataract 28, Age-Related Cortical

Age-Related Cortical Cataract 1
Alzheimer Disease 8

Ad8

Alzheimer'S Disease 8

Alzheimer Disease, Familial, 8

Alzheimer Disease, Familial 8

Alzheimer'S Disease 8, Late Onset
Axenfeld-Rieger Syndrome, Type 3

Axenfeld-Rieger Syndrome Type 3

RIEG3

Anterior Chamber Cleavage Syndrome

Anterior Segment Mesenchymal Dysgenesis

Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss

Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss

Rieger Syndrome Type 3

Axenfeld-Rieger Anomaly

Rieger Syndrome, Type 3

Axenfeld-Rieger Syndrome 3

Axenfeld Anomaly

Rieger Anomaly

Rieger Syndrome

Rieger Eye Malformation Sequence
Nance-Horan Syndrome

NHS

Cataract-Dental Syndrome

Cataract, X-Linked, With Hutchinsonian Teeth

Mesiodens-Cataract Syndrome

Cataract X-Linked With Hutchinsonian Teeth

Cataract Dental Syndrome

Mesiodens Cataract Syndrome
Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age
Amblyopia

Lazy Eye
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

相关产品

Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07656 LIM2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS07669 LIMS2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20764 Lhx5 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21366 Lhx2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus LIM2 VGNC VGNC:68051
Canis familiaris LIM2 VGNC VGNC:42676
Bos taurus LIM2 VGNC VGNC:30885
Mus musculus LIM2 MGD MGI:104698
Rattus norvegicus LIM2 RGD RGD:621482
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z