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TMBIM4 transmembrane BAX inhibitor motif containing 4 [ Homo sapiens (human) ]

Gene ID: 51643, updated on 9-Jun-2025
Official Symbol
TMBIM4provided by HGNC
Official Full Name
transmembrane BAX inhibitor motif containing 4provided by HGNC
Primary source
HGNC:HGNC:24257
See related
Ensembl:ENSG00000155957 MIM:616874; AllianceGenome:HGNC:24257
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
S1R; GAAP; LFG4; ZPRO; CGI-119
Summary
Predicted to enable calcium channel activity. Involved in negative regulation of apoptotic process and regulation of calcium-mediated signaling. Located in Golgi stack and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jun 2025]
Expression
Ubiquitous expression in thyroid (RPKM 40.4), testis (RPKM 37.8) and 25 other tissues See more
Orthologs
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See TMBIM4 in Genome Data Viewer
Location:
12q14.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (66135846..66169996, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (66115352..66149503, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (66529626..66563776, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6612 Neighboring gene LLP homolog, long-term synaptic facilitation factor Neighboring gene LLPH divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6613 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:66563510-66564034 Neighboring gene MPRA-validated peak1773 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:66568604-66568806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4636 Neighboring gene interleukin 1 receptor associated kinase 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:66616545-66617046 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:66617047-66617546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4637 Neighboring gene RNA binding motif single stranded interacting protein 1 pseudogene 1 Neighboring gene microRNA 6502

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: LLPH

Clone Names

  • FLJ45352

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in endoplasmic reticulum unfolded protein response IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of calcium-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
located_in Golgi stack IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein lifeguard 4
Names
Golgi anti-apoptotic protein
Z-protein
transmembrane BAX inhibitor motif-containing protein 4

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282606.2NP_001269535.1  protein lifeguard 4 isoform a

    See identical proteins and their annotated locations for NP_001269535.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and enocdes the longest isoform (a).
    Source sequence(s)
    AC078927
    Consensus CDS
    CCDS61187.1
    UniProtKB/TrEMBL
    A0A0J9YXA5, G3XAA5, Q9HC19
    Related
    ENSP00000286424.9, ENST00000286424.12
    Conserved Domains (1) summary
    cd10429
    Location:6283
    GAAP_like; Golgi antiapoptotic protein
  2. NM_001282609.2NP_001269538.1  protein lifeguard 4 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC078927
    Consensus CDS
    CCDS81710.1
    UniProtKB/TrEMBL
    E7EWY5, G3V1M2
    Related
    ENSP00000441291.2, ENST00000542724.5
    Conserved Domains (1) summary
    cl00473
    Location:6155
    BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family
  3. NM_001282610.2NP_001269539.1  protein lifeguard 4 isoform d

    See identical proteins and their annotated locations for NP_001269539.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region which results in the use of an alternate translational start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC078927
    UniProtKB/Swiss-Prot
    Q9HC24
    UniProtKB/TrEMBL
    Q7Z782
    Conserved Domains (1) summary
    cl00473
    Location:15205
    BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family
  4. NM_016056.4NP_057140.2  protein lifeguard 4 isoform b

    See identical proteins and their annotated locations for NP_057140.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to vairant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AC078927
    Consensus CDS
    CCDS41805.1
    UniProtKB/Swiss-Prot
    Q542Z6, Q9HC24, Q9UHY5, Q9Y3C2
    UniProtKB/TrEMBL
    Q9NZZ2
    Related
    ENSP00000350965.3, ENST00000358230.8
    Conserved Domains (1) summary
    cd10429
    Location:6236
    GAAP_like; Golgi antiapoptotic protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    66135846..66169996 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    66115352..66149503 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)