TMEM100 - transmembrane protein 100 Gene

Homo sapiens

Gene ID: 55273 | Gene type: protein coding

About TMEM100

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:55,719,627-55,732,081 (from NCBI)

This gene has 6 transcripts (splice variants), 243 orthologues and 1 paralogue. Biased expression in lung (RPKM 28.4), fat (RPKM 14.1) and 10 other tissues.

Summary

Involved in BMP signaling pathway. Located in several cellular components, including endoplasmic reticulum; perikaryon; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

TMEM100 Products(2)

mRNA	Protein	Name
NM_001099640.2	NP_001093110.1	transmembrane protein 100
NM_018286.3	NP_060756.2	transmembrane protein 100

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in BMP signaling pathway	IDA IDA: Inferred from direct assay	22783020	GOA
involved in cellular response to BMP stimulus	IDA IDA: Inferred from direct assay	22783020	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	22783020	GOA
located in perikaryon	IDA IDA: Inferred from direct assay	23485812	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	22783020	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	23485812	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM100 Protein Structure

PIRT

0
100
134 a.a.

Protein Preferred Names

Protein Names

transmembrane protein 100

Related Diseases

Diseases

Alias

Van Den Ende-Gupta Syndrome

VDEGS	Blepharophimosis, Arachnodactyly, And Congenital Contractures
Marden-Walker-Like Syndrome	Marden-Walker-Like Syndrome Without Psychomotor Retardation
Marden Walker Like Syndrome	Marden-Walker-Like Syndrome Without Psychmotor Retardation
Van Den Ende Gupta Syndrome	Marden Walker Like Syndrome Without Psychomotor Retardation
Blepharophimosis Arachnodactyly And Congenital Contractures

Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Disease	Hht
Osler-Weber-Rendu Disease	Telangiectasia, Hereditary Hemorrhagic
Osler Hemorrhagic Telangiectasia Syndrome	Orw Disease
Osler Weber Rendu Syndrome	Osler-Rendu-Weber Disease
Osler-Weber-Rendu Syndrome	Rendu-Osler Disease
Telangiectasia Hereditary Hemorrhagic	Telangiectasia Hemorrhagic, Hereditary
Hht - [Hereditary Haemorrhagic Telangiectasia]	Osler Haemorrhagic Telangiectasia Syndrome

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14643	TMEM100 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TMEM100	MGD	MGI:1915138
Felis catus	TMEM100	VGNC	VGNC:66253
Rattus norvegicus	TMEM100	RGD	RGD:1560541
Canis familiaris	TMEM100	VGNC	VGNC:47443
Macaca mulatta	TMEM100	VGNC	VGNC:79521
Bos taurus	TMEM100	VGNC	VGNC:35941

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