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Aliases for TMBIM6 Gene

Aliases for TMBIM6 Gene

  • Transmembrane BAX Inhibitor Motif Containing 6 2 3 5
  • Transmembrane BAX Inhibitor Motif-Containing Protein 6 3 4
  • Testis-Enhanced Gene Transcript Protein 3 4
  • Testis Enhanced Gene Transcript 2 3
  • TEGT 3 4
  • BI-1 3 4
  • BAX Inhibitor 1 2
  • Bax Inhibitor 1 3
  • BAXI1 3
  • BI1 4

External Ids for TMBIM6 Gene

Previous HGNC Symbols for TMBIM6 Gene

  • TEGT

Previous GeneCards Identifiers for TMBIM6 Gene

  • GC12P048422
  • GC12P050135
  • GC12P047166
  • GC12P050101

Summaries for TMBIM6 Gene

GeneCards Summary for TMBIM6 Gene

TMBIM6 (Transmembrane BAX Inhibitor Motif Containing 6) is a Protein Coding gene. Diseases associated with TMBIM6 include Inclusion Conjunctivitis. GO annotations related to this gene include enzyme binding and endoribonuclease inhibitor activity.

UniProtKB/Swiss-Prot for TMBIM6 Gene

  • Suppressor of apoptosis (PubMed:21075086). Modulates unfolded protein response signaling (PubMed:21075086). Modulates ER calcium homeostasis by acting as a calcium-leak channel (PubMed:22128171). Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation (By similarity).

Gene Wiki entry for TMBIM6 Gene

Additional gene information for TMBIM6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMBIM6 Gene

Genomics for TMBIM6 Gene

Regulatory Elements for TMBIM6 Gene

Enhancers for TMBIM6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H049669 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.6 -34.8 -34756 6 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 ZNF143 ATF7 RUNX3 REST FMNL3 TMBIM6 NCKAP5L FAM186B RNU6-834P TUBA1C ENSG00000257464 SPATS2 MCRS1 TUBA1A
GH12H049661 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13 -44.0 -43958 4 HDGF PKNOX1 ATF1 ZNF133 ETS1 ZNF121 ZNF766 ELK1 ATF7 RUNX3 FMNL3 MCRS1 TMBIM6 LOC390314 SMARCD1 LMBR1L KANSL2 DDX23 KMT2D TUBA1C
GH12H049748 1.5 Ensembl ENCODE dbSUPER 15.9 +42.5 42466 3 HDGF PKNOX1 ATF1 FEZF1 ZNF2 ELK1 FOS ATF7 RUNX3 YY2 TMBIM6 BCDIN3D-AS1 SMARCD1 LMBR1L FAIM2 NCKAP5L FMNL3 BCDIN3D DDX23 TUBA1C
GH12H049740 1.4 ENCODE dbSUPER 16 +35.2 35193 4 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 LMBR1L DDX23 ENSG00000257298 KMT2D FAM186B SMARCD1 TMBIM6 LIMA1 LOC100422296 LOC390314
GH12H049621 1.6 FANTOM5 ENCODE dbSUPER 11.2 -84.0 -84024 3 PKNOX1 ATF1 MLX ARID4B SIN3A BRCA1 YY1 GLIS2 ZNF143 FOS FMNL3 RNU6-834P TMBIM6 MCRS1 C1QL4 HIGD1AP9 PIR31660
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMBIM6 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMBIM6 Gene

Chromosome:
12
Start:
49,707,725 bp from pter
End:
49,764,934 bp from pter
Size:
57,210 bases
Orientation:
Plus strand

Genomic View for TMBIM6 Gene

Genes around TMBIM6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMBIM6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMBIM6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMBIM6 Gene

Proteins for TMBIM6 Gene

  • Protein details for TMBIM6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55061-BI1_HUMAN
    Recommended name:
    Bax inhibitor 1
    Protein Accession:
    P55061
    Secondary Accessions:
    • B2R5M4
    • F8W034
    • O14938
    • Q643A7
    • Q96J50

    Protein attributes for TMBIM6 Gene

    Size:
    237 amino acids
    Molecular mass:
    26538 Da
    Quaternary structure:
    • Interacts with BCL2 and BCL2L1.

    Alternative splice isoforms for TMBIM6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMBIM6 Gene

Post-translational modifications for TMBIM6 Gene

  • Ubiquitination at Lys7 and posLast=1515
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for TMBIM6 Gene

Domains & Families for TMBIM6 Gene

Gene Families for TMBIM6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for TMBIM6 Gene

Suggested Antigen Peptide Sequences for TMBIM6 Gene

Graphical View of Domain Structure for InterPro Entry

P55061

UniProtKB/Swiss-Prot:

BI1_HUMAN :
  • The intra-membrane loop at the C-terminus acts as a calcium pore, mediating calcium leak from the ER into the cytosol.
  • Belongs to the BI1 family.
Domain:
  • The intra-membrane loop at the C-terminus acts as a calcium pore, mediating calcium leak from the ER into the cytosol.
Family:
  • Belongs to the BI1 family.
genes like me logo Genes that share domains with TMBIM6: view

Function for TMBIM6 Gene

Molecular function for TMBIM6 Gene

UniProtKB/Swiss-Prot Function:
Suppressor of apoptosis (PubMed:21075086). Modulates unfolded protein response signaling (PubMed:21075086). Modulates ER calcium homeostasis by acting as a calcium-leak channel (PubMed:22128171). Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation (By similarity).

Phenotypes From GWAS Catalog for TMBIM6 Gene

Gene Ontology (GO) - Molecular Function for TMBIM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9660918
GO:0019899 enzyme binding IEA,IPI 19328063
GO:0031625 ubiquitin protein ligase binding IPI 21068390
GO:0060698 endoribonuclease inhibitor activity IDA 19328063
genes like me logo Genes that share ontologies with TMBIM6: view
genes like me logo Genes that share phenotypes with TMBIM6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TMBIM6

CRISPR Products

miRNA for TMBIM6 Gene

miRTarBase miRNAs that target TMBIM6

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMBIM6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMBIM6 Gene

Localization for TMBIM6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMBIM6 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMBIM6 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
cytosol 1

Gene Ontology (GO) - Cellular Components for TMBIM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 8530040
GO:0005737 cytoplasm IDA 9660918
GO:0005783 endoplasmic reticulum IDA,TAS 19328063
GO:0005789 endoplasmic reticulum membrane IDA 9660918
GO:0005887 integral component of plasma membrane TAS 10087504
genes like me logo Genes that share ontologies with TMBIM6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMBIM6 Gene

Pathways & Interactions for TMBIM6 Gene

SuperPathways for TMBIM6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMBIM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0006915 apoptotic process IEA --
GO:0006986 response to unfolded protein IEA --
GO:0010523 negative regulation of calcium ion transport into cytosol IDA 26582200
GO:0032091 negative regulation of protein binding IDA 19328063
genes like me logo Genes that share ontologies with TMBIM6: view

No data available for Pathways by source and SIGNOR curated interactions for TMBIM6 Gene

Drugs & Compounds for TMBIM6 Gene

(1) Drugs for TMBIM6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TMBIM6: view

Transcripts for TMBIM6 Gene

Unigene Clusters for TMBIM6 Gene

Transmembrane BAX inhibitor motif containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMBIM6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TMBIM6 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14
SP1: - - - - - - - -
SP2: - -
SP3: - - - -
SP4: - - - - -
SP5: - - - -
SP6:
SP7:
SP8: - -

Relevant External Links for TMBIM6 Gene

GeneLoc Exon Structure for
TMBIM6
ECgene alternative splicing isoforms for
TMBIM6

Expression for TMBIM6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMBIM6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMBIM6 Gene

This gene is overexpressed in CD4 Tcells (24.6), Nasal epithelium (22.8), and Liver (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMBIM6 Gene



Protein tissue co-expression partners for TMBIM6 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMBIM6 Gene:

TMBIM6

SOURCE GeneReport for Unigene cluster for TMBIM6 Gene:

Hs.743965

mRNA Expression by UniProt/SwissProt for TMBIM6 Gene:

P55061-BI1_HUMAN
Tissue specificity: Highly abundant in testis.

Evidence on tissue expression from TISSUES for TMBIM6 Gene

  • Nervous system(5)
  • Kidney(4.7)
  • Intestine(4.6)
  • Adrenal gland(4.5)
  • Lung(4.5)
  • Blood(4.2)
  • Skin(4.2)
  • Liver(4.1)
  • Pancreas(4)
  • Eye(3.6)
  • Stomach(3.6)
  • Muscle(2.7)
  • Spleen(2.7)
  • Heart(2.6)
  • Thyroid gland(2.5)
  • Gall bladder(2.3)
  • Lymph node(2.2)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with TMBIM6: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMBIM6 Gene

Orthologs for TMBIM6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TMBIM6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMBIM6 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia TMBIM6 33 34
  • 91.96 (n)
cow
(Bos Taurus)
Mammalia TMBIM6 33 34
  • 90.25 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 66 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Tmbim6 33 16 34
  • 86.26 (n)
rat
(Rattus norvegicus)
Mammalia Tmbim6 33
  • 85.67 (n)
lizard
(Anolis carolinensis)
Reptilia TMBIM6 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmbim6 33
  • 72.22 (n)
Str.7178 33
African clawed frog
(Xenopus laevis)
Amphibia tegt-prov 33
zebrafish
(Danio rerio)
Actinopterygii tegt 33 34
  • 67.4 (n)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9990 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005775 33
  • 51.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta BI-1 33 34
  • 48.2 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons BI1 33
  • 51.29 (n)
rice
(Oryza sativa)
Liliopsida Os02g0125300 33
  • 49.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11346 34
  • 56 (a)
OneToOne
Species where no ortholog for TMBIM6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMBIM6 Gene

ENSEMBL:
Gene Tree for TMBIM6 (if available)
TreeFam:
Gene Tree for TMBIM6 (if available)

Paralogs for TMBIM6 Gene

No data available for Paralogs for TMBIM6 Gene

Variants for TMBIM6 Gene

Sequence variations from dbSNP and Humsavar for TMBIM6 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000070593 -- 49,741,904(+) GCCCC(-/T)TTCTC intron-variant, utr-variant-5-prime
rs1000220250 -- 49,740,551(+) GGCTT(G/T)TCCTG upstream-variant-2KB
rs1000222466 -- 49,755,053(+) CCTGG(A/G)TTCAA intron-variant
rs1000296185 -- 49,755,262(+) TAAAG(C/T)GACCA intron-variant
rs1000798021 -- 49,760,670(+) TAGCT(A/G)GGATT intron-variant

Variation tolerance for TMBIM6 Gene

Residual Variation Intolerance Score: 47.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.59; 30.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMBIM6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMBIM6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TMBIM6 Gene

Disorders for TMBIM6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMBIM6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
inclusion conjunctivitis
  • adult inclusion conjunctivitis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMBIM6

Genetic Association Database (GAD)
TMBIM6
Human Genome Epidemiology (HuGE) Navigator
TMBIM6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMBIM6
genes like me logo Genes that share disorders with TMBIM6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMBIM6 Gene

Publications for TMBIM6 Gene

  1. Bax inhibitor-1, a mammalian apoptosis suppressor identified by functional screening in yeast. (PMID: 9660918) Xu Q … Reed JC (Molecular cell 1998) 2 3 4 60
  2. Identification of a novel conserved human gene, TEGT. (PMID: 8530040) Walter L … Günther E (Genomics 1995) 2 3 4 60
  3. The C terminus of Bax inhibitor-1 forms a Ca2+-permeable channel pore. (PMID: 22128171) Bultynck G … Methner A (The Journal of biological chemistry 2012) 3 4 60
  4. Six-transmembrane topology for Golgi anti-apoptotic protein (GAAP) and Bax inhibitor 1 (BI-1) provides model for the transmembrane Bax inhibitor-containing motif (TMBIM) family. (PMID: 22418439) Carrara G … Smith GL (The Journal of biological chemistry 2012) 3 4 60
  5. Endoplasmic reticulum protein BI-1 modulates unfolded protein response signaling and protects against stroke and traumatic brain injury. (PMID: 21075086) Krajewska M … Reed JC (Brain research 2011) 3 4 60

Products for TMBIM6 Gene

Sources for TMBIM6 Gene

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