TMBIM4 - transmembrane BAX inhibitor motif containing 4 Gene

Homo sapiens

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

Gene ID: 51643 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19553469	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14619	TMBIM4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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