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  2. TYROBP - transmembrane immune signaling adaptor TYROBP Gene

TYROBP - transmembrane immune signaling adaptor TYROBP Gene

中文名称:跨膜免疫信号转导接头 TYROBP

种属: Homo sapiens

同用名: DAP12; KARAP; PLOSL; PLOSL1

基因 ID: 7305 | 基因类型: protein coding

关于 TYROBP

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,904,403-35,908,295 (from NCBI)

This gene has 9 transcripts (splice variants), 101 orthologues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 147.9), spleen (RPKM 124.2) and 20 other tissues.

功能概要

该基因编码跨膜信号多肽,该多肽在其细胞质结构域中包含基于免疫受体酪氨酸的激活基序 (ITAM) 。编码的蛋白质可能与膜糖蛋白的杀伤细胞抑制受体 (KIR) 家族相关联,并可能充当激活信号转导元件。这种蛋白质可能结合 zeta 链 (TCR) 相关蛋白激酶 70kDa (ZAP-70) 和脾脏酪氨酸激酶 (Syk) ,并在信号转导、骨骼建模、脑髓鞘形成和炎症中发挥作用。该基因内的突变与多囊性脂膜性骨发育不良伴硬化性白质脑病 (PLOSL) ,也称为 Nasu-Hakola 病有关。其推定的受体,即髓样细胞 2 (TREM2) 上表达的触发受体,也会引起 PLOSL。已经为该基因鉴定了编码不同亚型的多个替代转录物变体。[RefSeq 提供,2010 年 3 月]

This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (Syk) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]

TYROBP 基因产物(4)

mRNA Protein Name
NM_001173514.2 NP_001166985.1 TYRO protein tyrosine kinase-binding protein isoform 3 precursor
NM_001173515.2 NP_001166986.1 TYRO protein tyrosine kinase-binding protein isoform 4 precursor
NM_003332.4 NP_003323.1 TYRO protein tyrosine kinase-binding protein isoform 1 precursor
NM_198125.3 NP_937758.1 TYRO protein tyrosine kinase-binding protein isoform 2 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 identical protein binding IPI
IPI: 通过物理相互作用推断
20890284 GOA
enables molecular adaptor activity IDA
IDA: 通过直接分析推断
10799849 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9655483 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
9655483 GOA
enables protein-macromolecule adaptor activity IDA
IDA: 通过直接分析推断
23459077 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
11602640 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in cell surface IDA
IDA: 通过直接分析推断
10799849 GOA
located in cell surface IDA
IDA: 通过直接分析推断
15294961 GOA
is active in plasma membrane IDA
IDA: 通过直接分析推断
23459077 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
9655483 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
蛋白主名 其他名称

TYRO protein tyrosine kinase-binding protein

DNAX adaptor protein 12

TYROBP 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
TYROBP O43914 SLC35B4 Homo sapiens Q969S0 32296183
种属内
TYROBP O43914 TMEM86A Homo sapiens Q8N2M4 32296183
种属内
TYROBP O43914 TYROBP Homo sapiens O43914
NMR
20890284
种属内
TYROBP O43914 TYROBP Homo sapiens O43914 20890284
种属内
TYROBP O43914 SIRPB1 Homo sapiens O00241 10940905
种属内
TYROBP O43914 SIRPB1 Homo sapiens O00241 10940905
种属内
TYROBP O43914 dap12-tm_nkg2c-tm_fusion_protein Homo sapiens EBI-16420154
NMR
20890284
种属间: 跨种属相互作用 种属内: 同种属相互作用

TYROBP 抗体

目录号 产品名 应用 反应物种
HY-P81906 DAP12 Antibody (YA1651) WB, IHC-P, ICC/IF, FC Human

关联疾病

疾病名称 别名
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1

Nasu-Hakola Disease

Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy

Plosl

Nhd

Presenile Dementia With Bone Cysts

Plo-Sl

PLOSL1

Dementia, Prefrontal, With Bone Cysts

Dementia, Progressive, With Lipomembranous Polycystic Osteodysplasia

Brain-Bone-Fat Disease

Progressive Dementia With Lipomembranous Polycystic Osteodysplasia

Brain-Bone-Fat Disease

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Agnosia

Dyspraxia

Primary Visual Agnosia

Dyspraxia Syndrome

Monomodal Visual Amnesia

Visual Amnesia

Agnosia, Primary Visual

Apraxias

Alexia

Solitary Bone Cyst

Unicameral Bone Cyst

Bone Cysts

Cyst Of Bone

Local Cyst Of Bone

Simple Bone Cyst

Solitary Bone Cyst, Unspecified Site

Traumatic Bone Cyst

Amyotrophic Lateral Sclerosis 3

ALS3

Amyotrophic Lateral Sclerosis Type 3

Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1

Hereditary Diffuse Leukoencephalopathy With Spheroids

Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia

Alsp

Gpsc

Subcortical Gliosis Of Neumann

Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1

Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids

Hdls

HDLS1

Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia

Gliosis, Familial Progressive Subcortical

Leukoencephalopathy, Diffuse Hereditary, With Spheroids

Pold

Pigmentary Orthochromatic Leukodystrophy

Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia

Familial Progressive Subcortical Gliosis

Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant

Dementia, Familial, Neumann Type

Adult-Onset Leukodystrophy With Neuroaxonal Spheroids

Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

Neuroaxonal Leukodystrophy

Fpsg

Familial Dementia, Neumann Type

Familial Dementia Neumann Type

Leukoencephalopathy, Diffuse Hereditary, With Spheroid

Speech Disorder

Speech Disorders

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

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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 TYROBP VGNC VGNC:48028
Felis catus TYROBP VGNC VGNC:66740
Mus musculus TYROBP MGD MGI:1277211
Rattus norvegicus TYROBP RGD RGD:1303081
Bos taurus TYROBP VGNC VGNC:36552