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  2. TNFRSF11A - TNF receptor superfamily member 11a Gene

TNFRSF11A - TNF receptor superfamily member 11a Gene

中文名称:TNF 受体超家族成员 11a

种属: Homo sapiens

同用名: FEO; OFE; ODFR; OSTS; PDB2; RANK; CD265; OPTB7; TRANCER; LOH18CR1; TRANCE-R

基因 ID: 8792 | 基因类型: protein coding

关于 TNFRSF11A

Cytogenetic location: 18q21.33 Genomic coordinates (GRCh38): 18:62,325,310-62,391,288 (from NCBI)

This gene has 4 transcripts (splice variants), 493 orthologues, 21 paralogues and is associated with 9 phenotypes. Biased expression in duodenum (RPKM 14.3), colon (RPKM 11.6) and 10 other tissues.

功能概要

由该基因编码的蛋白质是 TNF 受体超家族的成员。该受体可以与各种 TRAF 家族蛋白相互作用,通过该受体诱导 NF-kappa B 和 MAPK8/JNK 的激活。该受体及其配体是 T 细胞和树突细胞之间相互作用的重要调节剂。该受体也是破骨细胞和淋巴结发育的重要介质。该位点的突变与家族性膨胀性骨质溶解、常染色体隐性骨硬化症和佩吉特骨病有关。已经针对该基因座描述了选择性剪接的转录物变体。[RefSeq 提供,2012 年 8 月]

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]

TNFRSF11A 基因产物(10)

mRNA Protein Name
NM_001270950.2 NP_001257879.1 tumor necrosis factor receptor superfamily member 11A isoform 3 precursor
XM_017026065.2 XP_016881554.1 tumor necrosis factor receptor superfamily member 11A isoform X3
XM_011526244.3 XP_011524546.1 tumor necrosis factor receptor superfamily member 11A isoform X1
NM_001270949.2 NP_001257878.1 tumor necrosis factor receptor superfamily member 11A isoform 2 precursor
NM_001270951.2 NP_001257880.1 tumor necrosis factor receptor superfamily member 11A isoform 4 precursor
XM_011526245.3 XP_011524547.1 tumor necrosis factor receptor superfamily member 11A isoform X2
NM_001278268.2 NP_001265197.1 tumor necrosis factor receptor superfamily member 11A isoform 5 precursor
XM_017026066.2 XP_016881555.1 tumor necrosis factor receptor superfamily member 11A isoform X4
NM_003839.4 NP_003830.1 tumor necrosis factor receptor superfamily member 11A isoform 1 precursor
XM_017026064.2 XP_016881553.1 tumor necrosis factor receptor superfamily member 11A isoform X2
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 cytokine binding IPI
IPI: 通过物理相互作用推断
9367155 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10075662 GOA
enables transmembrane signaling receptor activity IDA
IDA: 通过直接分析推断
9367155 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in external side of plasma membrane IDA
IDA: 通过直接分析推断
9367155 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

TNFRSF11A 蛋白结构

TNFR_c6

TNFR_c6: TNFR/NGFR cysteine-rich region (38 - 68)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 616 a.a.
蛋白主名 其他名称

tumor necrosis factor receptor superfamily member 11A

Paget disease of bone 2

TRANCE receptor

familial expansile osteolysis

loss of heterozygosity, 18, chromosomal region 1

osteoclast differentiation factor receptor

receptor activator of NF-KB

receptor activator of nuclear factor-kappa B

tumor necrosis factor receptor superfamily, member 11a, NFKB activator

重组 TNFRSF11A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71687 RANK/TNFRSF11A Protein, Human (His) Q9Y6Q6 (28L-202K) ≥95%
HY-P72484 RANK/TNFRSF11A Protein, Human (HEK293, His) Q9Y6Q6 (I30-P212) ≥95%

关联疾病

疾病名称 别名
Paget Disease Of Bone 5, Juvenile-Onset

Juvenile Paget Disease

Hyperostosis Corticalis Deformans Juvenilis

Jpd

Hereditary Hyperphosphatasia

Hyperphosphatasemia With Bone Disease

Hyperphosphatasia, Familial Idiopathic

PDB5

Hyperphosphatasemia, Chronic Congenital Idiopathic

Osteoectasia, Familial

Jpg

Familial Osteoectasia

Paget Disease, Juvenile

Hyperostosid Corticalis Deformans Juvenilis

Juvenile Pagets Disease

Paget Disease Juvenile Type

Chronic Congenital Idiopathic Hyperphosphatasemia

Familial Idiopathic Hyperphosphatasemia

Idiopathic Hyperphosphatasia

Juvenile Paget'S Disease

Osteochalasia Desmalis Familiaris

Osteoectasia With Hyperphosphatasia

Chronic Congenital Idiopathic Hyperphosphatasia

Paget Disease Of Bone, Type 5, Juvenile-Onset

Juvenile Osteitis Deformans

Fanconi Anemia, Complementation Group P

Fanconi Anemia Complementation Group P

FANCP

Osteopetrosis, Autosomal Recessive 2

OPTB2

Autosomal Recessive Osteopetrosis 2

Osteopetrosis, Mild Autosomal Recessive Form

Osteoclast-Poor Osteopetrosis

Osteopetrosis, Osteoclast-Poor

Mild Autosomal Recessive Form Osteopetrosis

Osteopetrosis Autosomal Recessive 2

Autosomal Recessive Osteopetrosis Type 2

Osteopetrosis Osteoclast-Poor

Osteopetrosis, Autosomal Recessive, Type 2

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Glutaric Aciduria Iii

Glutaryl-Coa Oxidase Deficiency

Ga Iii

Glutaric Acidemia Type 3

GA3

Glutaric Aciduria Type 3

Glutaric Aciduria 3

Glutaric Acidemia Type Iii

Glutaric Aciduria Type Iii

Fibrous Dysplasia

Fibrous Dysplasia Of Bone

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

Mammary Paget'S Disease

Paget'S Disease

Mammary Paget Disease

Paget'S Disease Of The Breast

Paget Disease Of The Breast

Paget'S Disease Of The Nipple

Paget'S Disease, Mammary

Paget Cell Neoplasm

Paget Disease Of The Nipple

Pagets Disease Mammary

Osteitis Deformans

Giant Cell Reparative Granuloma

Central Giant Cell Granuloma

Central Giant Cell Reparative Granuloma Of Jaw

Central Giant Cell Granuloma

Granuloma, Giant Cell

Granuloma, Giant Cell Reparative

Giant Cell Lesion Of Small Bones

Giant Cell Granuloma, Nos

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Osteopetrosis, Autosomal Dominant 1

OPTA1

Autosomal Dominant Osteopetrosis 1

Autosomal Dominant Osteopetrosis Type 1

Osteopetrosis Autosomal Dominant Type 1

Osteopetrosis, Autosomal Dominant, Type I

Osteopetrosis, Autosomal Dominant, Type 1

Febrile Seizures, Familial, 1

FEB1

Convulsions, Familial Febrile, 1

Familial Febrile Seizures 1

Familial Febrile Convulsions 1

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Bone Remodeling Disease
Osteomyelitis
Osteopetrosis, Autosomal Recessive 7

OPTB7

Autosomal Recessive Osteopetrosis 7

Autosomal Recessive Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia

Autosomal Recessive Osteopetrosis Type 7

Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia

Osteopetrosis-Hypogammaglobulinemia Syndrome

Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia

Osteopetrosis Autosomal Recessive 7

Osteopetrosis Osteoclast-Poor With Hypogammaglobulinemia

Osteopetrosis, Autosomal Recessive, Type 7

Arthropathy

Ankylosis Of Ankle And Foot Joint

Ankylosis Of Forearm Joint

Ankylosis Of Hand Joint

Ankylosis Of Joint Of Ankle And/Or Foot

Ankylosis Of Joint Of Forearm

Ankylosis Of Joint Of Hand

Ankylosis Of Joint Of Lower Leg

Ankylosis Of Joint Of Multiple Sites

Ankylosis Of Joint Of Pelvic Region And Thigh

Ankylosis Of Joint Of Shoulder Region

Ankylosis Of Joint Of Upper Arm

Ankylosis Of Lower Leg Joint

Ankylosis Of Multiple Joints

Ankylosis Of Upper Arm Joint

Infectious Arthropathy

Joint Ankylosis Of The Ankle And Foot

Joint Ankylosis Of The Ankle And/Or Foot

Joint Ankylosis Of The Forearm

Joint Ankylosis Of The Hand

Joint Ankylosis Of The Lower Leg

Joint Ankylosis Of The Pelvic Region And Thigh

Joint Ankylosis Of The Shoulder Region

Joint Ankylosis Of The Upper Arm

Joint Diseases

Joint Disease

Arthropathy Associated With Infection

Epilepsy, Idiopathic Generalized 17

Febrile Seizures, Familial, 2

EIG17

Familial Febrile Seizures 2

FEB2

Epilepsy, Idiopathic Generalized, Susceptibility To, 17

Familial Febrile Convulsions 2

Convulsions, Familial Febrile, 2

Scoliosis
Benign Giant Cell Tumor

Giant Cell Tumors

Paget Disease Of Bone 2, Early-Onset

PDB2

Paget Disease Of Bone, Type 2, Early-Onset

Paget'S Disease Of Bone

Osteitis Deformans

Paget Disease Of Bone

Osseous Paget'S Disease

Paget Disease Of Bone, Familial

Bone Paget Disease

Familial Paget'S Disease Of Bone

Paget'S Bone Disease

Familial Paget Disease Of Bone

Paget Disease, Bone

Pdb

Pagets Bone Disease

Tooth Resorption
Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast

Parotid Gland Adenoid Cystic Carcinoma

Adenoid Cystic Carcinoma Of Parotid Gland

Familial Expansile Osteolysis

FEO

Mccabe Disease

Osteolysis, Familial Expansile

Polyostotic Osteolytic Dysplasia, Hereditary Expansile

Hepod

Expansile Osteolysis, Familial

Eof

Hereditary Expansile Polyostotic Osteolytic Dysplasia

Disseminated Chorioretinitis
Osteopetrosis

Albers-Schonberg Disease

Marble Bone Disease

Osteopetroses

Marble Bones

Osteopetrosis And Related Disorders

Congenital Osteopetrosis

Marble Bone

Albers-Schoenberg Disease

Albers-Schonberg Osteopetrosis

Osteosclerosis Fragilis

Ivory Bones

Craniometaphyseal Dysplasia, Autosomal Dominant

Craniometaphyseal Dysplasia

CMDD

Cmdj

Cmd

Autosomal Dominant Craniometaphyseal Dysplasia

Craniometaphyseal Dysplasia, Jackson Type

Craniometaphyseal Dysplasia Jackson Type

Autosomal Recessive Craniometaphyseal Dysplasia

Cmdr

Dysplasia, Craniometaphyseal, Autosomal Dominant

Craniometaphyseal Dysplasia, Autosomal Recessive Type

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Myeloma, Multiple

Multiple Myeloma

Kahler Disease

Myelomatosis

Plasma Cell Myeloma

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler'S Disease

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Primary Progressive Multiple Sclerosis

Ppms

Primary-Progressive Ms

Multiple Sclerosis, Primary Progressive

Dysosteosclerosis
Adult-Onset Myasthenia Gravis

Adult-Onset Acquired Myasthenia

Adult-Onset Autoimmune Myasthenia Gravis

Osteogenic Sarcoma

Osteosarcoma

OSRC

Osteosarcoma, Somatic

Neoplasms, Bone Tissue

Bone Tissue Neoplasm

Osteoid Sarcoma

Skeletal Sarcoma

Osteosarcoma Of Bone

Bone Sarcoma

Periostitis
Root Resorption
Bone Disease

Bone Diseases

Skeletal Disease

Skeletal Disorder

Disorder Of Skeletal System

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
Macaca mulatta TNFRSF11A VGNC VGNC:104252
Canis familiaris TNFRSF11A VGNC VGNC:47654
Felis catus TNFRSF11A VGNC VGNC:66402
Mus musculus TNFRSF11A MGD MGI:1314891
Bos taurus TNFRSF11A VGNC VGNC:56374
Rattus norvegicus TNFRSF11A RGD RGD:1563614
Others TNFRSF11A NCBI