BTNL2 - butyrophilin like 2 Gene

中文名称：嗜乳脂蛋白样 2

种属: Homo sapiens

同用名: SS2; BTN7; BTL-II; HSBLMHC1

基因 ID: 56244 | 基因类型: protein coding

关于 BTNL2

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,393,339-32,407,181 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 93 orthologues, 15 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码主要组织相容性复合体，II 类相关 I 型跨膜蛋白，属于嗜乳脂蛋白样 B7 免疫调节剂家族。它被认为参与免疫监视，通过减少 T 细胞增殖和细胞因子释放作为负性 T 细胞调节剂。编码的蛋白质包含一个 N 端信号肽、两对免疫球蛋白样结构域 (由七肽序列分隔) 和一个 C 端跨膜结构域。该基因中自然发生的突变与肉瘤病、类风湿性关节炎、溃疡性结肠炎、炎症性肠病、肌炎、1 型糖尿病、系统性红斑狼疮、急性冠脉综合征和前列腺癌有关。[RefSeq 提供，2017 年 5 月]

This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate Cancer. [provided by RefSeq, May 2017]

BTNL2 基因产物(1)

mRNA	Protein	Name
NM_001304561.2	NP_001291490.1	butyrophilin-like protein 2

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	32814053	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

BTNL2 蛋白结构

V-set

C2-set_2

V-set

C2-set_2

0
100
200
300
400
455 a.a.

蛋白主名

其他名称

butyrophilin-like protein 2

butyrophilin-like 2 (MHC class II associated)

关联疾病

疾病名称

别名

Sarcoidosis 2

Sarcoidosis, Susceptibility To, 2	SS2
Sarcoidosis	Besnier-Boeck-Schaumann Disease
Boeck Sarcoid

Sarcoidosis 1

Sarcoidosis	Boeck Sarcoid
Besnier-Boeck-Schaumann Disease	SS1
Sarcoidosis, Susceptibility To, 1	Lymphogranulomatosis
Hodgkin Disease	Boeck'S Disease
Boeck'S Sarcoid	Schaumann'S Disease Or Syndrome
Hutchinson-Boeck Disease Or Syndrome

Ulcerative Colitis

Colitis Gravis	Left Sided Ulcerative Colitis
Left-Sided Ulcerative Colitis	Idiopathic Proctocolitis
Inflammatory Bowel Disease, Ulcerative Colitis Type	Uc
Colitis Ulcerative	Colitis, Ulcerative
Chronic Left-Sided Ulcerative Colitis	Uc - [Ulcerative Colitis]
Chronic Ulcerative Enteritis	Mucosal Proctocolitis
Ulcerative Mucosal Proctocolitis	Left Hemicolitis

Colitis

Lupus Erythematosus

Lupus	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus, Systemic
Subacute Cutaneous Lupus	Le - [Lupus Erythematosus]

Coffin-Siris Syndrome 2

CSS2	Mrd14
Mental Retardation, Autosomal Dominant 14	Autosomal Dominant Mental Retardation 14
Coffin-Siris Syndrome, Type 2

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Hypersensitivity Reaction Type Iv Disease

Immunoproliferative Disorders

Immunoproliferative Disease

Epilepsy, Nocturnal Frontal Lobe, 2

Epilepsy, Nocturnal Frontal Lobe, Type 2	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2
ENFL2	Nocturnal Frontal Lobe Epilepsy 2

Rheumatoid Arthritis

RA	Arthritis, Rheumatoid
Rheumatoid Arthritis, Susceptibility To	Arthritis Or Polyarthritis, Rheumatic
Atrophic Arthritis	Rheumatism Arthritis
Rheumatoid Polyarthritis

Membranous Nephropathy

Membranous Glomerulonephritis	Glomerulonephritis, Membranous
Idiopathic Membranous Nephropathy	Idiopathic Membranous Glomerulonephritis
MBNP	Membranous Nephropathy, Susceptibility To
Extramembranous Glomerulonephritis	Mgn
Membranous Gn	Primary Membranous Glomerulonephritis
Primary Membranous Nephropathy	Nephropathy Membranous

Cardiac Sarcoidosis

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Systemic Lupus Erythematosus

Lupus Nephritis	SLE
Disseminated Lupus Erythematosus	Systemic Lupus Erythematosus, Susceptibility To
Lupus Erythematosus, Systemic	Lupus Nephritis, Susceptibility To
Libman-Sacks Disease	Systemic Lupus Erythematosus Susceptibility To
Sle - Lupus Erythematosus, Systemic	Le Syndrome
Lupus	Lupus Erythematosus Systemic
Lupus Erythematosus, Systemic, Susceptibility To	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus
Systemic Lupus Erythematosus Nos	Sle - [Systemic Lupus Erythematosus]

Fraser Syndrome 1

Fraser Syndrome	Cryptophthalmos With Other Malformations
Cryptophthalmos Syndrome	FRASRS1
Cryptophthalmos-Syndactyly Syndrome	Fraser-Francois Syndrome
Cyclopism	Meyer-Schwickerath'S Syndrome
Ulrich-Feichtiger Syndrome	Cryptophthalmos Syndactyly Syndrome
Fraser'S Syndrome	Meyer-Schwickerath Syndrome
Ullrich-Feichtiger Syndrome

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

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

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01676	BTNL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	BTNL2	VGNC	VGNC:60208
Bos taurus	BTNL2	VGNC	VGNC:107284
Canis familiaris	BTNL2	VGNC	VGNC:54925
Rattus norvegicus	BTNL2	RGD	RGD:620731
Mus musculus	BTNL2	MGD	MGI:1859549
Others	BTNL2	NCBI

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

BTNL2 - butyrophilin like 2 Gene

关于 BTNL2

功能概要

BTNL2 基因产物(1)

BTNL2 蛋白结构

关联疾病

直系同源

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BTNL2 - butyrophilin like 2 Gene

关于 BTNL2

功能概要

BTNL2 基因产物(1)

BTNL2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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