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  2. TSPAN32 - tetraspanin 32 Gene

TSPAN32 - tetraspanin 32 Gene

中文名称:四跨膜蛋白 32

种属: Homo sapiens

同用名: ART1; PHMX; PHEMX; TSSC6

基因 ID: 10077 | 基因类型: protein coding

关于 TSPAN32

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:2,302,013-2,318,204 (from NCBI)

This gene has 17 transcripts (splice variants), 102 orthologues and 32 paralogues. Biased expression in bone marrow (RPKM 10.4), spleen (RPKM 4.1) and 5 other tissues.

功能概要

该基因是四跨膜蛋白超家族的成员,是位于染色体 11p15.5 印迹基因域 (重要的肿瘤抑制基因区域) 的几个肿瘤抑制亚转移片段之一。该区域的改变与 Beckwith-Wiedemann 综合征、肾母细胞瘤、横纹肌肉瘤、肾上腺皮质癌以及肺癌、卵巢癌和乳腺癌有关。该基因位于几个印迹基因之间;然而,该基因以及抑制肿瘤的亚染色体可转移片段 4 逃脱了印记。该基因可能在涉及该区域的恶性肿瘤和疾病中发挥作用,它还涉及造血细胞功能。已经描述了选择性剪接的转录本变体,但尚未确定它们的生物学有效性。[RefSeq 提供,2008 年 7 月]

This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

TSPAN32 基因产物(1)

mRNA Protein Name
NM_139022.3 NP_620591.3 tetraspanin-32

TSPAN32 蛋白结构

Tetraspannin

Tetraspannin: Tetraspanin family (10 - 221)

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

tetraspanin-32

pan-hematopoietic expression protein

关联疾病

疾病名称 别名
Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

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
Mus musculus TSPAN32 MGD MGI:1350360
Rattus norvegicus TSPAN32 RGD RGD:1308721
Felis catus TSPAN32 VGNC VGNC:66632
Canis familiaris TSPAN32 VGNC VGNC:47921
Bos taurus TSPAN32 VGNC VGNC:54507
Macaca mulatta TSPAN32 VGNC VGNC:78920