2. Gene
  3. TM2D3 - TM2 domain containing 3 Gene

TM2D3 - TM2 domain containing 3 Gene

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

中文名称：含 TM2 域 3

种属: Homo sapiens

同用名: BLP2

基因 ID: 80213 | 基因类型: protein coding

关于 TM2D3

Cytogenetic location: 15q26.3 Genomic coordinates (GRCh38): 15:101,632,977-101,652,381 (from NCBI)

This gene has 16 transcripts (splice variants), 201 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 24.1), ovary (RPKM 18.7) and 25 other tissues.

功能概要

该基因编码的蛋白质包含一个与七个跨膜结构域 G 蛋白偶联受体超家族相关的结构模块。这种蛋白质与 β-淀粉样蛋白结合蛋白 (BBP) 具有序列和结构相似性，但与 BBP 不同的是，它不调节对 β-淀粉样蛋白肽的反应。这种蛋白质可能在细胞死亡或增殖信号级联中具有调节作用。描述了该基因的几种可变剪接的转录本变体，但尚未确定某些变体的全长性质。在该基因中发现了多个聚腺苷酸化位点。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]

TM2D3 基因产物(4)

mRNA Protein Name
NM_001307960.2 NP_001294889.1 TM2 domain-containing protein 3 isoform c precursor
NM_001308026.2 NP_001294955.1 TM2 domain-containing protein 3 isoform d precursor
NM_025141.4 NP_079417.2 TM2 domain-containing protein 3 isoform b precursor
NM_078474.3 NP_510883.2 TM2 domain-containing protein 3 isoform a precursor

TM2D3 蛋白结构

TM2

TM2: TM2 domain (184 - 230)

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

TM2 domain-containing protein 3

BBP-like protein 2

关联疾病

疾病名称 别名
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction

VETD

Heterozygotes For Tbx2 Variants
Lipase Deficiency, Combined

Lipoprotein Lipase Deficiency With Hepatic Triglyceride Lipase Deficiency

Lpl And Htgl Deficiency

Lpl And Hl Deficiency

Familial Lipase Maturation Factor 1 Deficiency

Lipase Deficiency Combined

Combined Lipase Deficiency

Familial Lmf1 Deficiency

CLD
Spondylocostal Dysostosis 4, Autosomal Recessive

SCDO4

Spondylocostal Dysostosis 4

Autosomal Recessive Spondylocostal Dysostosis 4

Doid:0112364

Dysostosis, Spondylocostal, Autosomal Recessive, Type 4
Spondylocostal Dysostosis 1, Autosomal Recessive

Jarcho-Levin Syndrome

SCDO1

Vertebral Anomalies

Spondylothoracic Dysplasia

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylocostal Dysostosis 1

Autosomal Recessive Spondylocostal Dysostosis 1

Spondylocostal Dysostosis, Autosomal Recessive, 1

Doid:0112365

Dysostosis, Spondylocostal, Autosomal Recessive, Type 1
Trichorhinophalangeal Syndrome, Type Ii

Langer-Giedion Syndrome

Lgs

Trichorhinophalangeal Syndrome Type Ii

Trichorhinophalangeal Syndrome Type 2

TRPS2

Monosomy 8q24.1

Chromosome 8q24.1 Deletion Syndrome

Deletion 8q24.1

Giedion-Langer Syndrome

Trichorhinophalangeal Dysplasia Type Ii

Langer Giedion Syndrome

Trps 2

Tricho-Rhino-Phalangeal Syndrome Type Ii

Trichorhinophalangeal Syndrome With Exostosis

Trps Ii

Tricho-Rhino-Phalangeal Syndrome 2

8q24.1 Microdeletion Syndrome

8q24.1 Deletion Syndrome
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly

Conorenal Syndrome

Saldino-Mainzer Syndrome

SRTD9

Mainzer-Saldino Syndrome

Mzsds

Mainzer-Saldino Disease

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dysplasia

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dy

Mainzer Saldino Syndrome

Conorenal Dysplasia

Mainzer-Saldino Chondrodysplasia

Saldino-Mainzer Dysplasia

Short-Rib Thoracic Dysplasia 9

Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome

Mss

Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia And Skeletal Dysplasia
Heinz Body Anemias

Heinz Body Anemia

Heinz Body Anemias, Alpha-

HEIBAN

Anemia, Heinz Body

Acquired Heinz Body Anemia
Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve
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-RS14605 TM2D3 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 TM2D3 VGNC VGNC:66223
Rattus norvegicus TM2D3 RGD RGD:1564929
Mus musculus TM2D3 MGD MGI:1915884
Canis familiaris TM2D3 VGNC VGNC:47406
Macaca mulatta TM2D3 VGNC VGNC:79419
Bos taurus TM2D3 VGNC VGNC:35902
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