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Aliases for TMEM41B Gene

Aliases for TMEM41B Gene

  • Transmembrane Protein 41B 2 3 5
  • KIAA0033 4

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 for TMEM41B Gene

  • Required for normal motor neuron development.

Additional gene information for TMEM41B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM41B Gene

Genomics for TMEM41B Gene

GeneHancer (GH) Regulatory Elements for TMEM41B Gene

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
GH11I009313 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 563.7 +0.2 226 3.2 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 TMEM41B SNORA3B ZNF143 KRT8P41 SCUBE2 DENND5A PRR13P2
GH11I009263 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.5 +50.0 49959 3.4 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 POLR2B SP3 SP5 JUNB DENND5A TMEM41B SCUBE2 ENSG00000255097
GH11I009319 Enhancer 1.1 Ensembl ENCODE 14.2 -4.7 -4738 1.1 PKNOX1 ATF1 ARNT ZNF48 TCF12 ZNF766 ATF7 CAVIN1 ZNF592 MEF2D ENSG00000254397 TMEM41B IPO7 DENND5A SNORA3B ST5 RPL21P97 SCUBE2 GC11P009354
GH11I009208 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.5 +104.5 104529 4.2 HDGF PKNOX1 BMI1 BATF IRF4 GTF3C2 ZNF121 ATF7 ETV6 BCLAF1 DENND5A SCUBE2 IPO7 TMEM41B GC11M009222
GH11I009564 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.4 -257.5 -257468 15.2 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 WEE1 SNORA3B SWAP70 ZNF143 TRIM66 RPL21P97 AKIP1 TMEM41B DENND5A ENSG00000238387
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM41B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM41B gene promoter:

Genomic Locations for TMEM41B Gene

Genomic Locations for TMEM41B Gene
chr11:9,280,654-9,314,780
(GRCh38/hg38)
Size:
34,127 bases
Orientation:
Minus strand
chr11:9,302,201-9,336,327
(GRCh37/hg19)

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:
    No Data Available
    SequenceCaution:
    • Sequence=BAA05062.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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 posLast=100100 and isoforms=185

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:

Graphical View of Domain Structure for InterPro Entry

Q5BJD5

UniProtKB/Swiss-Prot:

TM41B_HUMAN :
  • Belongs to the TMEM41 family.
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 normal motor neuron development.

Phenotypes From GWAS Catalog for TMEM41B Gene

Phenotypes for TMEM41B Gene

GenomeRNAi human phenotypes for TMEM41B:
genes like me logo Genes that share phenotypes with TMEM41B: view

Animal Model Products

miRNA for TMEM41B Gene

miRTarBase miRNAs that target TMEM41B

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM41B Gene

Localization for TMEM41B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM41B Gene

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 TMEM41B gene
Compartment Confidence
plasma membrane 3
peroxisome 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM41B: view

Pathways & Interactions for TMEM41B Gene

SuperPathways for TMEM41B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM41B Gene

GO ID Qualified GO term Evidence PubMed IDs
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 :
(5) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM41B Gene

Transmembrane protein 41B:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
TMEM41B

Expression for TMEM41B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TMEM41B Gene



Protein tissue co-expression partners for TMEM41B Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM41B Gene:

TMEM41B

SOURCE GeneReport for Unigene cluster for TMEM41B Gene:

Hs.594563

Evidence on tissue expression from TISSUES for TMEM41B Gene

  • Nervous system(4.8)
  • 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 33 34
  • 99.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM41B 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM41B 33 34
  • 93.59 (n)
cow
(Bos Taurus)
Mammalia TMEM41B 33 34
  • 92.44 (n)
rat
(Rattus norvegicus)
Mammalia Tmem41b 33
  • 88.43 (n)
mouse
(Mus musculus)
Mammalia Tmem41b 33 16 34
  • 87.63 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM41B 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM41B 33 34
  • 82.38 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM41B 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem41b 33
  • 70.16 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem41b 33 34
  • 67.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8408 33 34
  • 54.74 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000769 33
  • 53.95 (n)
worm
(Caenorhabditis elegans)
Secernentea tag-175 33 34
  • 55.94 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G17790 33
  • 51.1 (n)
rice
(Oryza sativa)
Liliopsida Os02g0693500 33
  • 48.44 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3420 34
  • 56 (a)
OneToOne
Species where no ortholog for TMEM41B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TMEM41B Gene

Paralogs for TMEM41B Gene

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

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

Variants for TMEM41B Gene

Sequence variations from dbSNP and Humsavar for TMEM41B Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000018050 -- 9,297,523(-) C/G intron_variant
rs1000066226 -- 9,292,663(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000075938 -- 9,304,239(-) G/C intron_variant
rs1000149059 -- 9,303,915(-) A/G intron_variant
rs1000209680 -- 9,316,206(-) C/A upstream_transcript_variant

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

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

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 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. 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) 2 3 4 58
  2. 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 (supplement). (PMID: 7584028) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for TMEM41B Gene

Sources for TMEM41B Gene

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