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TM2D3 - TM2 domain containing 3 Gene

Also Known as BLP2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80213

About 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.

Summary

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 Products (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 Protein Structure

TM2

0
100
200
247 a.a.

Protein Preferred Names	Protein Names
TM2 domain-containing protein 3	BBP-like protein 2

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14605	TM2D3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	TM2D3	NCBI