1. Gene
  2. VANGL1 - VANGL planar cell polarity protein 1 Gene

VANGL1 - VANGL planar cell polarity protein 1 Gene

中文名称:VANGL 平面细胞极性蛋白 1

种属: Homo sapiens

同用名: LPP2; STB2; STBM2; KITENIN

基因 ID: 81839 | 基因类型: protein coding

关于 VANGL1

Cytogenetic location: 1p13.1 Genomic coordinates (GRCh38): 1:115,641,970-115,698,221 (from NCBI)

This gene has 6 transcripts (splice variants), 267 orthologues, 1 paralogue and is associated with 16 phenotypes. Ubiquitous expression in esophagus (RPKM 4.2), thyroid (RPKM 3.8) and 25 other tissues.

功能概要

该基因编码 tretraspanin 家族的一个成员。所编码的蛋白质可能参与介导肠粘膜中肠三叶因子诱导的伤口愈合。该基因的突变与神经管缺陷有关。交替剪接导致多个转录本变体。[RefSeq 提供,2010 年 2 月]

This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

VANGL1 基因产物(3)

mRNA Protein Name
NM_001172411.2 NP_001165882.1 vang-like protein 1 isoform 2
NM_001172412.2 NP_001165883.1 vang-like protein 1 isoform 1
NM_138959.3 NP_620409.1 vang-like protein 1 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
15205336 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

VANGL1 蛋白结构

Strabismus

Strabismus: Strabismus protein (24 - 524)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 524 a.a.
蛋白主名 其他名称

vang-like protein 1

KAI1 C-terminal interacting tetraspanin

VANGL1 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
VANGL1 Q8TAA9 CREB3 Homo sapiens O43889-2
Validated Y2H
25910212
种属内
VANGL1 Q8TAA9 CREB3 Homo sapiens O43889-2
Y2H Array
25910212
种属内
VANGL1 Q8TAA9 CREB3 Homo sapiens O43889-2
Y2H Bait-Prey Pool
25910212
种属内
VANGL1 Q8TAA9 CD82 Homo sapiens P27701
IF
15205336
种属内
VANGL1 Q8TAA9 CD82 Homo sapiens P27701
Y2H
15205336
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
Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome

Caudal Regression Sequence

Sacral Agenesis

Caudal Dysgenesis Syndrome

SDAM

Caudal Dysplasia Sequence

Caudal Dysplasia

Sacral Agenesis Syndrome

Sacral Regression Syndrome

Sacral Defect And Anterior Sacral Meningocele

Rudd Klimek Syndrome

Sirenomelia

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Myelomeningocele

Meningomyelocele

Upper Thoracic Spina Bifida Cystica
Cervicothoracic Spina Bifida Cystica
Cervical Spina Bifida Cystica
Lumbosacral Spina Bifida Cystica
Thoracolumbosacral Spina Bifida Cystica
Total Spina Bifida Cystica
Upper Thoracic Spina Bifida Aperta
Thoracolumbosacral Spina Bifida Aperta
Lumbosacral Spina Bifida Aperta
Cervical Spina Bifida Aperta

Spina Bifida Aperta Of Cervical Spine

Cervicothoracic Spina Bifida Aperta
Total Spina Bifida Aperta
Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Meningocele

Isolated Spina Bifida

Spina Bifida

Cleft Spine

Open Spine

Rachischisis

Spinal Dysraphism

Spinal Meningocele

Congenital Meningocele

Anencephaly

Aprosencephaly

Anencephalus

Congenital Absence Of Brain

Absence Of A Large Part Of The Brain And The Skull

Anencephalia

Anencephalic Monster

Brain Absence

Brain Agenesis

Brain Aplasia

Absent Brain

Anencephalic

Congenital Absence Of Cerebrum

Congenital Hemicrania

Incomplete Anencephaly

Spina Bifida Occulta
Tethered Spinal Cord Syndrome

Spinal Dysraphism

Tethered Cord Syndrome

Occult Spinal Dysraphism

Occult Spinal Dysraphism Sequence

Segmental Vertebral Anomalies

Tethered Spinal Cord Disease

Tethered Cord

Spina Bifida Occulta

Cryptomerorachischisis

Spina Bifida Occulta With Tethered Spinal Cord

Sbo - [Spina Bifida Occulta]

Spinal Cord Lipoma

Lipoma Of Spinal Cord

Currarino Syndrome

Currarino Triad

Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation

CURRAS

Brachydactyly, Type B1

Brachydactyly Type B1

Brachydactyly Type B

BDB1

Brachydactyly, Type B

Bdb

Brachydactyly B1

Ocular Motility Disease

Ocular Motility Disorders

Abnormality Of Eye Movement

Disorder Of Eye Movements

Eye Movement Disorder

Eye Movement Disorders

Scoliosis
Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Fetal Face Syndrome

Robinow Dwarfism

Mesomelic Dwarfism-Small Genitalia Syndrome

Robinow-Silverman-Smith Syndrome

Costovertebral Segmentation Defect With Mesomelia

Covesdem Syndrome

Robinow'S Syndrome

Robinow-Silverman Syndrome

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Constipation
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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris VANGL1 VGNC VGNC:48228
Mus musculus VANGL1 MGD MGI:2159344
Macaca mulatta VANGL1 VGNC VGNC:78976
Rattus norvegicus VANGL1 RGD RGD:1597324
Felis catus VANGL1 VGNC VGNC:66915
Bos taurus VANGL1 VGNC VGNC:36761