1. Gene
  2. ADGRG6 - adhesion G protein-coupled receptor G6 Gene

ADGRG6 - adhesion G protein-coupled receptor G6 Gene

中文名称:粘附 G 蛋白偶联受体 G6

种属: Homo sapiens

同用名: APG1; DREG; VIGR; LCCS9; PR126; GPR126; PS1TP2

基因 ID: 57211 | 基因类型: protein coding

关于 ADGRG6

Cytogenetic location: 6q24.2 Genomic coordinates (GRCh38): 6:142,302,007-142,446,261 (from NCBI)

This gene has 14 transcripts (splice variants), 209 orthologues, 42 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 17.7), liver (RPKM 15.5) and 18 other tissues.

功能概要

该基因在人脐静脉内皮细胞中上调,编码 G 蛋白偶联受体。该基因的变异会影响一个人的身高。已发现该基因编码不同蛋白质的多个转录变体。[RefSeq 提供,2009 年 3 月]

This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]

ADGRG6 基因产物(4)

mRNA Protein Name
NM_001032394.3 NP_001027566.2 adhesion G-protein coupled receptor G6 isoform alpha 2 precursor
NM_001032395.3 NP_001027567.2 adhesion G-protein coupled receptor G6 isoform beta 2 precursor
NM_020455.6 NP_065188.5 adhesion G-protein coupled receptor G6 isoform alpha 1 precursor
NM_198569.3 NP_940971.2 adhesion G-protein coupled receptor G6 isoform beta 1 precursor
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 G protein-coupled receptor activity IMP
IMP: 通过突变表型推断
24227709 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Schwann cell differentiation IMP
IMP: 通过突变表型推断
24227709 GOA
involved in cAMP-mediated signaling IMP
IMP: 通过突变表型推断
24227709 GOA
involved in myelination IMP
IMP: 通过突变表型推断
26004201 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
15225624 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
15189448 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
15189448 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

ADGRG6 蛋白结构

CUB

CUB: CUB domain (41 - 146)

Pentaxin

Pentaxin: Pentaxin family (157 - 341)

GPS

GPS: GPCR proteolysis site, GPS, motif (800 - 847)

7tm_2

7tm_2: 7 transmembrane receptor (Secretin family) (862 - 1110)

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  • 1221 a.a.
蛋白主名 其他名称

adhesion G-protein coupled receptor G6

G-protein coupled receptor 126

关联疾病

疾病名称 别名
Lethal Congenital Contracture Syndrome 9

LCCS9

Contracture Syndrome, Lethal, Congenital, Type 9

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Lethal Congenital Contracture Syndrome

Lccs

Lethal Congenital Contracture Syndrome 1

Polymicrogyria, Bilateral Frontoparietal

Bilateral Frontoparietal Polymicrogyria

BFPP

Cerebellar Ataxia With Neuronal Migration Defect

Celery Allergy
Arthrogryposis, Distal, Type 5

Oculomelic Amyoplasia

Distal Arthrogryposis Type 5

Distal Arthrogryposis Type Iib

DA5

Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities

Daiib

Distal Arthrogryposis Type 2b

Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome

Distal Arthrogryposis With Ophthalmoplegia

Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome

Arthrogryposis, Distal, Type Iib

Da2b

Freeman-Sheldon Syndrome Variant

Sheldon-Hall Syndrome

Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities

Arthrogryposis Ophthalmoplegia Retinopathy

Arthrogryposis, Distal, 5

Arthrogryposis, Distal, Type 2b

Scoliosis
Combined Oxidative Phosphorylation Deficiency 5

COXPD5

Hypotonia With Lactic Acidemia And Hyperammonemia

Combined Oxidative Phosphorylation Defect Type 5

Combined Oxidative Phosphorylation Deficiency, Type 5

Lethal Congenital Contracture Syndrome 2

LCCS2

Lethal Congenital Contractural Syndrome 2

Multiple Contracture Syndrome, Israeli-Bedouin Type

Multiple Contracture Syndrome, Israeli Bedouin Type A

Multiple Contracture Syndrome, Israeli Bedouin Type

Lethal Congenital Contracture Syndrome Type 2

Israeli Bedouin Multiple Contracture Syndrome Type A

Contracture Syndrome, Lethal, Congenital, Type 2

Vegetable Allergy
Lethal Congenital Contracture Syndrome 4

LCCS4

Contracture Syndrome, Lethal, Congenital, Type 4

Idiopathic Scoliosis

Scoliosis Idiopathic

Vibratory Urticaria

Vibratory Angioedema

Dermodistortive Urticaria

VBU

Ddu

Angioedema, Vibratory

Usher Syndrome, Type Iic

Usher Syndrome Type 2c

USH2C

Usher Syndrome, Type 2c

Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic

Usher Syndrome Type Iic

Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic

Usher Syndrome 2c

Usher'S Syndrome Type 2c

Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic

Bone Structure Disease
Demyelinating Polyneuropathy

Peripheral Demyelinating Neuropathy

Demyelinating Peripheral Neuropathy

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 ADGRG6 RGD RGD:1308551
Mus musculus ADGRG6 MGD MGI:1916151
Macaca mulatta ADGRG6 VGNC VGNC:81009
Canis familiaris ADGRG6 VGNC VGNC:37648
Felis catus ADGRG6 VGNC VGNC:102375
Bos taurus ADGRG6 VGNC VGNC:25669