1. Gene
  2. LRIG2 - leucine rich repeats and immunoglobulin like domains 2 Gene

LRIG2 - leucine rich repeats and immunoglobulin like domains 2 Gene

中文名称:富亮氨酸的重复序列和免疫球蛋白样结构域 2

种属: Homo sapiens

同用名: LIG2; UFS2; LIG-2

基因 ID: 9860 | 基因类型: protein coding

关于 LRIG2

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:113,073,198-113,132,260 (from NCBI)

This gene has 5 transcripts (splice variants), 203 orthologues, 22 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 2.7), ovary (RPKM 2.5) and 25 other tissues.

功能概要

该基因编码的跨膜蛋白含有富含亮氨酸的重复序列和免疫球蛋白样结构域。编码的蛋白质促进表皮生长因子信号传导,导致增殖增加。它在神经胶质瘤细胞的细胞质中的表达与较差的存活率相关。该基因的突变可导致尿面部综合征。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 8 月]

This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

LRIG2 基因产物(2)

mRNA Protein Name
NM_001312686.2 NP_001299615.1 leucine-rich repeats and immunoglobulin-like domains protein 2 isoform 2
NM_014813.3 NP_055628.1 leucine-rich repeats and immunoglobulin-like domains protein 2 isoform 1 precursor
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
25353163 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

LRIG2 蛋白结构

LRR_8

LRR_8: Leucine rich repeat (144 - 192)

LRR_8

LRR_8: Leucine rich repeat (240 - 299)

LRR_6

LRR_6: Leucine Rich repeat (310 - 325)

LRR_8

LRR_8: Leucine rich repeat (336 - 398)

LRR_1

LRR_1: Leucine Rich Repeat (411 - 431)

Ig_2

Ig_2: Immunoglobulin domain (497 - 598)

I-set

I-set: Immunoglobulin I-set domain (602 - 692)

I-set

I-set: Immunoglobulin I-set domain (696 - 783)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1065 a.a.
蛋白主名 其他名称

leucine-rich repeats and immunoglobulin-like domains protein 2

LRIG2 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
种属内
LRIG2 O94898 EGFR Homo sapiens P00533 25353163
种属内
LRIG2 O94898 EGFR Homo sapiens P00533 25353163
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
Urofacial Syndrome 2

UFS2

Urofacial Syndrome 1

Urofacial Syndrome

Ochoa Syndrome

Hydronephrosis With Peculiar Facial Expression

Ufs

Inverted Smile And Occult Neuropathic Bladder

Partial Facial Palsy With Urinary Abnormalities

UFS1

Urofacial Ochoa'S Syndrome

Urofacial Syndrome Type 1

Facial Palsy, Partial, With Urinary Abnormalities

Hydronephrosis-Inverted Smile

Inverted Smile-Neurogenic Bladder

Hydronephrosis-Inverted Smile Syndrome

Inverted Smile-Neurogenic Bladder Syndrome

Partial Facial Palsy Partial With Urinary Abnormalities

Urologic Diseases

Prune Belly Syndrome

Eagle-Barrett Syndrome

Abdominal Muscle Deficiency Syndrome

PBS

Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism

Egbrs

Eagle-Barret Syndrome

Urethral Obstruction Sequence

Obrinsky Syndrome

Triad Syndrome

Obrisnksy Syndrome

Euos

Early Urethral Obstruction Sequence

Renal Dysplasia Or Hydronephrosis, Oligohydramnios And Subsequent Lung Hypoplasia Due To Urethral Obstruction

Absence Of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism

Abdomen Muscle Deficiency Syndrome

Abdomen Muscular Deficiency Syndrome

Abdominal Muscular Deficiency Syndrome

Abdominal Muscle Aplasia Syndrome

Oligodendroglioma

Oligodendroglial Neoplasm

Oligodendroglial Tumor

Oligodendroglial Tumors

Well Differentiated Oligodendroglioma

Lagophthalmos

Defective Lid Closure

Poor Closure Eyelids

Corpus Callosum, Agenesis Of, With Abnormal Genitalia

Proud Syndrome

Corpus Callosum Agenesis-Abnormal Genitalia Syndrome

Acc With Abnormal Genitalia

Proud-Levine-Carpenter Syndrome

Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome

Corpus Callosum Agenesis With Abnormal Genitalia

New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum

Proud Levine Carpenter Syndrome

Acc-Abnormal Genitalia Syndrome

Agenesis Of The Corpus Callosum, With Abnormal Genitalia

ACCAG

Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia

Congenital Neurologic Anomalies

Vaginal Cancer

Malignant Neoplasm Of Vagina

Vaginal Neoplasms

Malignant Tumor Of Vagina

Malignant Vaginal Tumor

Neoplasm Of Vagina

Vagina Neoplasm

Vaginal Tumor

Vaginal Carcinoma

Vaginal Malignant Epithelial Tumor

Vaginal Neoplasm

Malignant Vaginal Neoplasm

Vagina Carcinoma

Vaginal Neoplasia

Cancer Of Vagina

Malignant Tumour Of Vagina

Carcinoma Of Vagina

Primary Malignant Neoplasm Of Vagina

Vagina Wall Cancer

Vaginal Wall Cancer

Neurogenic Bladder

Neurogenic Dysfunction Of The Urinary Bladder

Neurogenic Urinary Bladder Disorder

Neuropathic Bladder

Bladder Neurogenic

Urinary Bladder, Neurogenic

Neurogenic Urinary Bladder

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Berdon Syndrome

MMIHS

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis, Microcolon, Hypoperistalsis Syndrome

Visceral Myopathy

Mmih Syndrome

Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

MMIHS1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

Mmhs

Vesicoureteral Reflux

Vesico-Ureteral Reflux

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 LRIG2 RGD RGD:1309554
Felis catus LRIG2 VGNC VGNC:63281
Mus musculus LRIG2 MGD MGI:2443718
Macaca mulatta LRIG2 VGNC VGNC:74323
Bos taurus LRIG2 VGNC VGNC:30983
Canis familiaris LRIG2 VGNC VGNC:42768