Aliases for TMEM41B Gene

Aliases for TMEM41B Gene

  • Transmembrane Protein 41B 2 3 4 5
  • Protein Stasimon 3 4
  • Stasimon 2 3
  • KIAA0033 2 4
  • TMEM41B 5

External Ids for TMEM41B Gene

Previous GeneCards Identifiers for TMEM41B Gene

  • GC11M009259
  • GC11M008974

Summaries for TMEM41B Gene

GeneCards Summary for TMEM41B Gene

TMEM41B (Transmembrane Protein 41B) is a Protein Coding gene. An important paralog of this gene is TMEM41A.

UniProtKB/Swiss-Prot Summary for TMEM41B Gene

  • Required for autophagosome formation (PubMed:30126924, PubMed:30093494, PubMed:30933966). Participates in early stages of autophagosome biogenesis at the ER membrane proabably via mobilization of neutral lipids from lipid droplets (PubMed:30126924). Required for normal motor neuron development (By similarity). Essential for embryonic development (By similarity).

Additional gene information for TMEM41B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM41B Gene

Genomics for TMEM41B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM41B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J009313 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 613.6 +0.5 465 3.9 BRCA1 SP1 CREB1 GATAD2A ZNF629 REST TFE3 IKZF1 KDM1A POLR2A TMEM41B lnc-IPO7-3 NRIP3 KRT8P41 SCUBE2 DENND5A PRR13P2
GH11J009263 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.9 +50.4 50435 4.8 CREB1 GATAD2A ATF7 ZNF629 KDM1A ZNF692 POLR2A BACH1 JUND LARP7 DENND5A lnc-IPO7-4 TMEM41B SCUBE2 piR-55985-021
GH11J009208 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.8 +102.0 102048 8.8 CEBPG SP1 ATF7 PRDM10 BACH1 JUND STAT3 PRDM1 RELA TCF12 DENND5A SCUBE2 IPO7 TMEM41B piR-31998-001 RF00017-855
GH11J009321 Enhancer 0.9 ENCODE 13.9 -5.0 -5026 0.8 LEF1 IKZF1 PKNOX1 ZNF24 ZNF740 DPF2 HDAC1 SOX6 TCF12 MGA piR-48049-022 ENSG00000254397 DENND2B TMEM41B IPO7 DENND5A SNORA3B TMEM9B-AS1 RPL21P97 SCUBE2
GH11J009564 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.4 -257.6 -257612 15.2 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 REST TFE3 RFX1 WEE1 lnc-SBF2-7 TRIM66 SNORA3B SWAP70 RPL21P97 AKIP1 ZNF143 TMEM41B DENND5A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM41B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM41B

Top Transcription factor binding sites by QIAGEN in the TMEM41B gene promoter:
  • AML1a
  • E2F-1
  • E47
  • Egr-4
  • GATA-1
  • NRF-2
  • p53
  • Pax-5
  • RFX1
  • Tal-1

Genomic Locations for TMEM41B Gene

Genomic Locations for TMEM41B Gene
chr11:9,280,654-9,314,636
(GRCh38/hg38)
Size:
33,983 bases
Orientation:
Minus strand
chr11:9,302,201-9,336,327
(GRCh37/hg19)
Size:
34,127 bases
Orientation:
Minus strand

Genomic View for TMEM41B Gene

Genes around TMEM41B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM41B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM41B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM41B Gene

Proteins for TMEM41B Gene

  • Protein details for TMEM41B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5BJD5-TM41B_HUMAN
    Recommended name:
    Transmembrane protein 41B
    Protein Accession:
    Q5BJD5
    Secondary Accessions:
    • D3DQU9
    • E9PP29
    • Q15055
    • Q4G0P0

    Protein attributes for TMEM41B Gene

    Size:
    291 amino acids
    Molecular mass:
    32513 Da
    Quaternary structure:
    • Interacts with VMP1 (PubMed:30093494). Interacts with COPA, COPB1, VDAC1 and ERLIN2 (PubMed:30352685).
    SequenceCaution:
    • Sequence=BAA05062.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM41B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM41B Gene

Post-translational modifications for TMEM41B Gene

  • Ubiquitination at Lys100 and Lys185
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM41B Gene

No data available for DME Specific Peptides for TMEM41B Gene

Domains & Families for TMEM41B Gene

Gene Families for TMEM41B Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM41B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM41B Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 41B (TM41B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5BJD5

UniProtKB/Swiss-Prot:

TM41B_HUMAN :
  • The VTT domain was previously called the SNARE-assoc domain. As there is no evidence that this domain associates with SNARE proteins, it was renamed as VMP1, TMEM41, and TVP38 (VTT) domain.
  • Belongs to the TMEM41 family.
Domain:
  • The VTT domain was previously called the SNARE-assoc domain. As there is no evidence that this domain associates with SNARE proteins, it was renamed as VMP1, TMEM41, and TVP38 (VTT) domain.
Family:
  • Belongs to the TMEM41 family.
genes like me logo Genes that share domains with TMEM41B: view

Function for TMEM41B Gene

Molecular function for TMEM41B Gene

UniProtKB/Swiss-Prot Function:
Required for autophagosome formation (PubMed:30126924, PubMed:30093494, PubMed:30933966). Participates in early stages of autophagosome biogenesis at the ER membrane proabably via mobilization of neutral lipids from lipid droplets (PubMed:30126924). Required for normal motor neuron development (By similarity). Essential for embryonic development (By similarity).

Phenotypes From GWAS Catalog for TMEM41B Gene

Gene Ontology (GO) - Molecular Function for TMEM41B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 30093494
genes like me logo Genes that share ontologies with TMEM41B: view
genes like me logo Genes that share phenotypes with TMEM41B: view

Animal Models for TMEM41B Gene

MGI Knock Outs for TMEM41B:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM41B

CRISPR Products

miRNA for TMEM41B Gene

miRTarBase miRNAs that target TMEM41B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM41B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM41B Gene

Localization for TMEM41B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM41B Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein. Note=Localized to specific membrane structures termed mitochondria-associated membranes (MAMs) which connect the endoplasmic reticulum (ER) and the mitochondria. {ECO:0000269 PubMed:30352685}.

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 TMEM41B gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMEM41B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 30093494
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0044233 Mitochondria-associated ER Membrane IDA 30352685
genes like me logo Genes that share ontologies with TMEM41B: view

Pathways & Interactions for TMEM41B Gene

PathCards logo

SuperPathways for TMEM41B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM41B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IMP 30093494
GO:0006914 autophagy IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with TMEM41B: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM41B Gene

Drugs & Compounds for TMEM41B Gene

No Compound Related Data Available

Transcripts for TMEM41B Gene

mRNA/cDNA for TMEM41B Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM41B

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM41B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6
SP1: -
SP2:

Relevant External Links for TMEM41B Gene

GeneLoc Exon Structure for
TMEM41B

Expression for TMEM41B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM41B Gene

Protein differential expression in normal tissues from HIPED for TMEM41B Gene

This gene is overexpressed in Bone (16.8) and Fetal testis (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM41B Gene



Protein tissue co-expression partners for TMEM41B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM41B

SOURCE GeneReport for Unigene cluster for TMEM41B Gene:

Hs.594563

Evidence on tissue expression from TISSUES for TMEM41B Gene

  • Nervous system(4.9)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with TMEM41B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM41B Gene

Orthologs for TMEM41B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TMEM41B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMEM41B 30 31
  • 99.77 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM41B 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TMEM41B 30 31
  • 93.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMEM41B 30 31
  • 92.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmem41b 30
  • 88.43 (n)
Mouse
(Mus musculus)
Mammalia Tmem41b 30 17 31
  • 87.63 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMEM41B 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMEM41B 30 31
  • 82.38 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMEM41B 31
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmem41b 30
  • 70.16 (n)
Zebrafish
(Danio rerio)
Actinopterygii tmem41b 30 31
  • 67.75 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG8408 30 31
  • 54.74 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000769 30
  • 53.95 (n)
Worm
(Caenorhabditis elegans)
Secernentea tag-175 30 31
  • 55.94 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G17790 30
  • 51.1 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0693500 30
  • 48.44 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3420 31
  • 56 (a)
OneToOne
Species where no ortholog for TMEM41B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for TMEM41B Gene

ENSEMBL:
Gene Tree for TMEM41B (if available)
TreeFam:
Gene Tree for TMEM41B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM41B: view image

Paralogs for TMEM41B Gene

Paralogs for TMEM41B Gene

(1) SIMAP similar genes for TMEM41B Gene using alignment to 2 proteins:

  • TM41B_HUMAN
  • E9PJ42_HUMAN
genes like me logo Genes that share paralogs with TMEM41B: view

Variants for TMEM41B Gene

Additional dbSNP identifiers (rs#s) for TMEM41B Gene

Structural Variations from Database of Genomic Variants (DGV) for TMEM41B Gene

Variant ID Type Subtype PubMed ID
dgv1641n54 CNV gain 21841781
dgv1642n54 CNV gain+loss 21841781
dgv583n106 CNV deletion 24896259
esv1001197 CNV deletion 20482838
esv24655 CNV loss 19812545
esv2567694 CNV deletion 19546169
esv2744092 CNV deletion 23290073
esv32901 CNV loss 17666407
esv33264 CNV loss 17666407
esv3370049 CNV insertion 20981092
esv3547296 CNV deletion 23714750
esv3578238 CNV gain 25503493
esv3579356 CNV loss 25503493
esv3579357 CNV loss 25503493
esv3579358 CNV loss 25503493
esv3625328 CNV loss 21293372
nsv1055078 CNV gain 25217958
nsv1075413 CNV deletion 25765185
nsv499766 OTHER inversion 21111241
nsv508617 CNV deletion 20534489
nsv512208 CNV loss 21212237
nsv515891 CNV gain 19592680
nsv521969 CNV loss 19592680
nsv553456 CNV gain 21841781
nsv553460 CNV gain 21841781
nsv553461 CNV loss 21841781
nsv553463 CNV gain 21841781
nsv553464 CNV gain 21841781
nsv553466 CNV loss 21841781
nsv7215 OTHER inversion 18451855
nsv7669 CNV deletion 18451855
nsv957172 CNV deletion 24416366
nsv971985 CNV duplication 23825009

Variation tolerance for TMEM41B Gene

Residual Variation Intolerance Score: 60.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.01; 60.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM41B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM41B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM41B Gene

Disorders for TMEM41B Gene

Additional Disease Information for TMEM41B

No disorders were found for TMEM41B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM41B Gene

Publications for TMEM41B Gene

  1. Stasimon/Tmem41b localizes to mitochondria-associated ER membranes and is essential for mouse embryonic development. (PMID: 30352685) Van Alstyne M … Pellizzoni L (Biochemical and biophysical research communications 2018) 2 3 4
  2. TMEM41B is a novel regulator of autophagy and lipid mobilization. (PMID: 30126924) Moretti F … Nyfeler B (EMBO reports 2018) 2 3 4
  3. Genome-wide CRISPR screen identifies TMEM41B as a gene required for autophagosome formation. (PMID: 30093494) Morita K … Mizushima N (The Journal of cell biology 2018) 2 3 4
  4. CRISPR screening using an expanded toolkit of autophagy reporters identifies TMEM41B as a novel autophagy factor. (PMID: 30933966) Shoemaker CJ … Denic V (PLoS biology 2019) 3 4
  5. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PMID: 7584026) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 3 4

Products for TMEM41B Gene

Sources for TMEM41B Gene