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TMBIM4 - transmembrane BAX inhibitor motif containing 4 Gene

Also Known as S1R; GAAP; LFG4; ZPRO; CGI-119

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51643

About TMBIM4

Cytogenetic location: 12q14.3 Genomic coordinates (GRCh38): 12:66,135,846-66,169,996 (from NCBI)

This gene has 12 transcripts (splice variants), 191 orthologues and 5 paralogues. Ubiquitous expression in thyroid (RPKM 40.4), testis (RPKM 37.8) and 25 other tissues.

Summary

Involved in negative regulation of apoptotic process and regulation of calcium-mediated signaling. Located in Golgi stack. [provided by Alliance of Genome Resources, Apr 2022]

TMBIM4 Products (4)

mRNA	Protein	Name
NM_001282606.2	NP_001269535.1	protein lifeguard 4 isoform a
NM_001282609.2	NP_001269538.1	protein lifeguard 4 isoform c
NM_001282610.2	NP_001269539.1	protein lifeguard 4 isoform d
NM_016056.4	NP_057140.2	protein lifeguard 4 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19553469	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	17319741	GOA
involved in regulation of calcium-mediated signaling	IDA IDA: Inferred from direct assay	19553469	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi stack	IDA IDA: Inferred from direct assay	17319741	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

TMBIM4 Protein Structure

Bax1-I

0
100
200
238 a.a.

Protein Preferred Names	Protein Names
protein lifeguard 4	Golgi anti-apoptotic protein

Related Diseases

Diseases	Alias
Lassa Fever	Lf Lassa Hemorrhagic Fever Lf - [Lassa Fever]
Deafness, Autosomal Recessive 74	DFNB74 Autosomal Recessive Nonsyndromic Deafness 74 Autosomal Recessive Deafness 74 Deafness, Autosomal Recessive, 74 Deafness, Autosomal Recessive, Type 74
Peroneal Neuropathy	Peroneal Neuropathies
Middle Cerebral Artery Infarction	Infarction, Middle Cerebral Artery Infarction Middle Cerebral Artery
Narcissistic Personality Disorder
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

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-RS14619	TMBIM4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TMBIM4	VGNC	VGNC:100112
Mus musculus	TMBIM4	MGD	MGI:1915462
Rattus norvegicus	TMBIM4	RGD	RGD:735173