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  2. ANTXR2 - ANTXR cell adhesion molecule 2 Gene

ANTXR2 - ANTXR cell adhesion molecule 2 Gene

中文名称:ANTXR 细胞粘附分子 2

种属: Homo sapiens

同用名: HFS; ISH; JHF; CMG2; CMG-2

基因 ID: 118429 | 基因类型: protein coding

关于 ANTXR2

Cytogenetic location: 4q21.21 Genomic coordinates (GRCh38): 4:79,901,146-80,073,472 (from NCBI)

This gene has 13 transcripts (splice variants), 268 orthologues, 2 paralogues and is associated with 4 phenotypes. Broad expression in prostate (RPKM 24.4), endometrium (RPKM 22.7) and 21 other tissues.

功能概要

该基因编码炭疽毒素的受体。该蛋白与胶原蛋白 IV 和层粘连蛋白结合,表明它可能参与细胞外基质粘附。该基因的突变会导致青少年透明纤维瘤病和婴儿全身性玻璃样变性。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 3 月]

This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

ANTXR2 基因产物(4)

mRNA Protein Name
NM_001145794.2 NP_001139266.1 anthrax toxin receptor 2 isoform 2 precursor
NM_001286780.2 NP_001273709.1 anthrax toxin receptor 2 isoform 3
NM_001286781.2 NP_001273710.1 anthrax toxin receptor 2 isoform 3
NM_058172.6 NP_477520.2 anthrax toxin receptor 2 isoform 1 precursor
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
15044490 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

ANTXR2 蛋白结构

VWA

VWA: von Willebrand factor type A domain (44 - 199)

Anth_Ig

Anth_Ig: Anthrax receptor extracellular domain (215 - 318)

Ant_C

Ant_C: Anthrax receptor C-terminus region (394 - 484)

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

anthrax toxin receptor 2

capillary morphogenesis gene 2 protein

重组 ANTXR2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76151 CMG-2/ANTXR2 Protein, Human (HEK293, Fc) P58335-4 (Q34-N317) ≥95%
HY-P700656 CMG-2/ANTXR2 Protein, Human (HEK293, His) P58335-4/NP_477520.2 (Q34-G318) ≥95%

关联疾病

疾病名称 别名
Hyaline Fibromatosis Syndrome

Juvenile Hyaline Fibromatosis

Inherited Systemic Hyalinosis

Puretic Syndrome

Infantile Systemic Hyalinosis

HFS

Hyalinosis, Systemic

Systemic Hyalinosis

Molluscum Fibrosum

Murray Syndrome

Murray-Puretic-Drescher Syndrome

Ish

Jhf

Fibromatosis, Juvenile Hyaline

Hyalinosis, Systemic Infantile

Fibromatosis, Hyaline Syndrome

Neurofibromatosis 1

Fibromatosis
Gingival Hypertrophy

Hypertrophy Of Gingivae

Anthrax Disease

Anthrax

Ragpicker'S Disease

Black Baine

Malignant Edema

Malignant Pustule

Siberian Plague

Wool Sorter'S Disease

Gas Gangrene

Cutaneous Anthrax

Anthrax Infection

Splenic Fever

Inhalation Anthrax

Pulmonary Anthrax

Respiratory Anthrax

Inhalational Anthrax

Wool-Sorters' Disease

Woolsorters' Disease

Inhalation Anthrax Disease

Respiratory Anthrax Disease

Cutaneous Anthrax

Anthrax, Skin Type

Skin Anthrax

Gastrointestinal Anthrax
Oropharyngeal Anthrax
Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Gapo Syndrome

GAPOS

Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy

Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome

Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy

Lipoid Proteinosis Of Urbach And Wiethe

Lipoid Proteinosis

Urbach-Wiethe Disease

Hyalinosis Cutis Et Mucosae

Lipid Proteinosis

Lipoproteinosis

Urbach Wiethe Disease

Lipoglycoproteinosis

Lipoidosis Cutis Et Mucosae

Lipoidproteinosis

Urbach-Wiethe Lipoid Proteinosis

Urbach-Wiethe Syndrome

LIP

Proteinosis Lipoid

Winchester Syndrome

WNCHRS

Winchester Disease

Winchester-Grossman Syndrome

Protein-Losing Enteropathy

Protein-Losing Enteropathies

Enteropathy, Exudative

Exudative Enteropathy

Ple - [Protein-Losing Enteropathy]

Gingival Disease

Gingival Diseases

Gum Disease

Gingival Disorder

Gingivitis And Periodontal Diseases

Stiff Skin Syndrome

SSKS

Stiff Skin

Oculoglandular Tularemia
Gingival Fibromatosis

Hereditary Gingival Fibromatosis

Hereditary Gingival Hyperplasia

Autosomal Dominant Gingival Fibromatosis

Autosomal Dominant Gingival Hyperplasia

Fibromatosis, Gingival, Hereditary

Fibromatosis, Gingival

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
Bos taurus ANTXR2 VGNC VGNC:25962
Rattus norvegicus ANTXR2 RGD RGD:1561294
Felis catus ANTXR2 VGNC VGNC:59838
Canis familiaris ANTXR2 VGNC VGNC:37936
Macaca mulatta ANTXR2 VGNC VGNC:69881
Mus musculus ANTXR2 MGD MGI:1919164
Others ANTXR2 NCBI