TMEM94 - transmembrane protein 94 Gene

Homo sapiens

Also known as IDDCDF; KIAA0195

Gene ID: 9772 | Gene type: protein coding

About TMEM94

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,456,635-75,500,452 (from NCBI)

This gene has 33 transcripts (splice variants), 206 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 13.2), testis (RPKM 12.0) and 25 other tissues.

Summary

Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

TMEM94 Products(5)

mRNA	Protein	Name
NM_001321148.2	NP_001308077.1	transmembrane protein 94 isoform 2
NM_001321149.2	NP_001308078.1	transmembrane protein 94 isoform 3
NM_001351202.2	NP_001338131.1	transmembrane protein 94 isoform 4
NM_001351203.2	NP_001338132.1	transmembrane protein 94 isoform 5
NM_014738.6	NP_055553.3	transmembrane protein 94 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables P-type magnesium transporter activity	IDA IDA: Inferred from direct assay	38513662	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in magnesium ion transport from cytosol to endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	38513662	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	38513662	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

TMEM94 Protein Structure

Cation_ATPase_C

0
300
600
900
1200
1356 a.a.

Protein Preferred Names

Protein Names

transmembrane protein 94

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies

IDDCDF

Tmem94-Associated Congenital Heart Defect-Facial Dysmorphism-Developmental Delay Syndrome

Body Dysmorphic Disorder

Dysmorphophobia	Body Dysmorphia
Dysmorphic Syndrome	Body Dysmorphic Disorders

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Hypertrichosis

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-RS14748	TMEM94 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TMEM94	VGNC	VGNC:36128
Macaca mulatta	TMEM94	VGNC	VGNC:79760
Mus musculus	TMEM94	MGD	MGI:1919197
Canis familiaris	TMEM94	VGNC	VGNC:47616
Rattus norvegicus	TMEM94	RGD	RGD:7685108
Felis catus	TMEM94	VGNC	VGNC:66372

Name
Email *

	Sorry, but the email address you supplied was invalid.