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  2. TSPAN7 - tetraspanin 7 Gene

TSPAN7 - tetraspanin 7 Gene

中文名称:四跨膜蛋白 7

种属: Homo sapiens

同用名: A15; MXS1; CD231; MRX58; CCG-B7; TM4SF2; XLID58; TALLA-1; TM4SF2b; DXS1692E

基因 ID: 7102 | 基因类型: protein coding

关于 TSPAN7

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:38,561,542-38,688,918 (from NCBI)

This gene has 8 transcripts (splice variants), 272 orthologues, 32 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 306.6), adrenal (RPKM 70.3) and 14 other tissues.

功能概要

由该基因编码的蛋白质是跨膜 4 超家族的成员,也称为四跨膜蛋白家族。这些成员中的大多数是细胞表面蛋白,其特征在于存在四个疏水结构域。这些蛋白质介导在细胞发育、活化、生长和运动的调节中起作用的信号转导事件。这种编码的蛋白质是一种细胞表面糖蛋白,可能在控制神经突生长方面发挥作用。已知它与整合素复合。该基因与 X 连锁认知障碍和神经精神疾病有关,例如亨廷顿氏舞蹈病、脆性 X 综合征和强直性肌营养不良。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked cognitive disability and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq, Jul 2008]

TSPAN7 基因产物(1)

mRNA Protein Name
NM_004615.4 NP_004606.2 tetraspanin-7

TSPAN7 蛋白结构

Tetraspannin

Tetraspannin: Tetraspanin family (14 - 239)

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

tetraspanin-7

CD231 antigen

重组 TSPAN7 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77497 TM4SF2/TSPAN7 Protein, Human (HEK293, His) AAH18036.1 (R113-M213) ≥95%

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, X-Linked 58

XLID58

Mrx58

Mental Retardation, X-Linked 58

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability 58

Mrx58

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Syndromic Intellectual Disability
Non-Syndromic X-Linked Intellectual Disability 91

Mrx91

Non-Syndromic X-Linked Intellectual Disability 106

Mrx106

X-Linked Mental Retardation 106

Non-Syndromic X-Linked Intellectual Disability 98

Mrx98

X-Linked Mental Retardation 98

Non-Syndromic X-Linked Intellectual Disability 9

Mrx44

Mrx9

X-Linked Mental Retardation 44

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type

Hsd10 Disease, Atypical Type

X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome

Mrxs10

Mental Retardation, X-Linked, Syndromic 10

Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

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 TSPAN7 MGD MGI:1298407
Rattus norvegicus TSPAN7 RGD RGD:1589725
Macaca fascicularis TSPAN7 NCBI
Others TSPAN7 NCBI