2. Gene
  3. JAM3 - junctional adhesion molecule 3 Gene

JAM3 - junctional adhesion molecule 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：连接粘附分子 3

种属: Homo sapiens

同用名: JAMC; JAM-2; JAM-3; JAM-C

基因 ID: 83700 | 基因类型: protein coding

关于 JAM3

Cytogenetic location: 11q25 Genomic coordinates (GRCh38): 11:134,069,072-134,152,001 (from NCBI)

This gene has 8 transcripts (splice variants), 276 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in placenta (RPKM 57.0), testis (RPKM 33.0) and 22 other tissues.

功能概要

紧密连接代表上皮或内皮细胞片中细胞间粘附的一种模式，在细胞周围形成连续密封，并作为物理屏障防止溶质和水自由通过细胞旁空间。由该免疫球蛋白超家族基因成员编码的蛋白质位于高内皮细胞之间的紧密连接处。与该家族中的其他蛋白质不同，该蛋白质无法粘附在白细胞细胞系上，只能形成弱的同型相互作用。编码的蛋白质是连接粘附分子蛋白质家族的成员，并充当该家族另一个成员的受体。该基因内含子的突变与脑出血性破坏、室管膜下钙化和先天性白内障有关。可变剪接导致多个转录变体。[RefSeq 提供，2011 年 4 月]

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]

JAM3 基因产物(2)

mRNA Protein Name
NM_001205329.2 NP_001192258.1 junctional adhesion molecule C isoform 2 precursor
NM_032801.5 NP_116190.3 junctional adhesion molecule C isoform 1 precursor

JAM3 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (35 - 129)

Ig_2

Ig_2: Immunoglobulin domain (144 - 228)

  • 0
  • 100
  • 200
  • 310 a.a.
蛋白主名 其他名称

junctional adhesion molecule C

重组 JAM3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73850 JAM-C/CD323 Protein, Human (HEK293, Fc) Q9BX67 (M1-N241) ≥95%
HY-P73851 JAM-C/CD323 Protein, Human (HEK293) Q9BX67 (V32-N241) ≥95%

关联疾病

疾病名称 别名
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts

Porencephaly-Microcephaly-Bilateral Congenital Cataract Syndrome

HDBSCC

Hemorrhagic Destruction Of The Brain With Subependymal Calcification And Cataracts

Hemorrhagic Destruction Of The Brain, Subependymal Calcification, Cataracts
Jacobsen Syndrome

Chromosome 11q Deletion Syndrome

Partial 11q Monosomy Syndrome

Jacobsen Distal 11q Deletion Syndrome

JBS

11q Partial Monosomy Syndrome

Chromosome 11q Deletion

11q Deletion

11q Monosomy

Deletion 11q

Monosomy 11q

Partial Monosomy 11q

11q Deletion Disorder

11q Deletion Syndrome

11q Terminal Deletion Disorder

11q- Deletion Syndrome

11q23 Deletion Disorder

Jacobsen Thrombocytopenia

11q Terminal Deletion Syndrome

Del(11)(Q23.3)

Del(11)(Qter)

Distal Deletion 11q

Distal Monosomy 11q

Monosomy 11qter

Telomeric Deletion 11q

Paris-Trousseau Thrombocytopenia
Pseudo-Torch Syndrome 1

Pseudo-Torch Syndrome

Band-Like Calcification With Simplified Gyration And Polymicrogyria

Blcpmg

PTORCH1

Baraitser-Brett-Piesowicz Syndrome

Baraitser-Reardon Syndrome

Bilateral Band-Like Calcification With Polymicrogyria

Blc-Pmg

Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome

Congenital Intrauterine Infection-Like Syndrome

Baraitser Brett Piesowicz Syndrome

Microcephaly - Intracranial Calcification - Intellectual Disability
Psoriatic Arthritis

Psoriatic Arthritis, Susceptibility To

Psoriatic Arthropathy

Arthropathic Psoriasis

Arthritis, Psoriatic

Arthritis Psoriatica

PSORAS

Arthritic Psoriasis

Psoriasis Arthropathica

Arthritis Psoriatic

Arthritis, Psoriatic, Susceptibility To
Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07028 JAM3 Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus JAM3 RGD RGD:1303248
Mus musculus JAM3 MGD MGI:1933825
Macaca mulatta JAM3 VGNC VGNC:73836
Canis familiaris JAM3 VGNC VGNC:53419
Bos taurus JAM3 VGNC VGNC:50018
Felis catus JAM3 VGNC VGNC:63002
Others JAM3 NCBI
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