TMEM94 - transmembrane protein 94 Gene

Also Known as IDDCDF; KIAA0195

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9772

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	References	Source
enables P-type magnesium transporter activity	IDA IDA: Inferred from direct assay	38513662	GOA

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

Cellular Component GO Annotation	Evidence	References	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

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