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Aliases for TMEM106B Gene

Aliases for TMEM106B Gene

  • Transmembrane Protein 106B 2 3 5

External Ids for TMEM106B Gene

Previous GeneCards Identifiers for TMEM106B Gene

  • GC07P012025

Summaries for TMEM106B Gene

GeneCards Summary for TMEM106B Gene

TMEM106B (Transmembrane Protein 106B) is a Protein Coding gene. Diseases associated with TMEM106B include Progressive Non-Fluent Aphasia and Dementia, Frontotemporal. An important paralog of this gene is TMEM106A.

UniProtKB/Swiss-Prot for TMEM106B Gene

  • Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with MAP6. May act by inhibiting retrograde transport of lysosomes along dendrites. Required for dendrite branching.

Gene Wiki entry for TMEM106B Gene

Additional gene information for TMEM106B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM106B Gene

Genomics for TMEM106B Gene

Regulatory Elements for TMEM106B Gene

Enhancers for TMEM106B 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
GH07H012210 1.1 ENCODE 13.2 +0.2 212 2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TMEM106B THSD7A VWDE GC07M012369
GH07H012951 1.2 Ensembl ENCODE 5.4 +740.5 740545 0 HDAC1 PKNOX1 ATF1 NFIB ARNT ZNF133 SIN3A CHAMP1 TCF12 GATA2 TMEM106B ARL4A GC07M012931 LOC105375158
GH07H012222 0.5 ENCODE 12.6 +11.7 11666 0 NFE2 RUNX3 GABPA TMEM106B GC07M012369
GH07H012198 0.8 ENCODE 7.8 -11.6 -11564 1 SOX13 FOXA2 SAP130 CEBPG TEAD3 NR2F6 MAFK HOMEZ GATAD2A SOX5 TMEM106B VWDE GC07P012201 GC07M012133
GH07H012297 0.6 ENCODE 10.2 +86.7 86688 0 ZNF217 SMARCE1 CTBP1 GATA3 ELF1 RCOR1 DPF2 VWDE TMEM106B GC07M012369
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM106B on UCSC Golden Path with GeneCards custom track

Promoters for TMEM106B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000208494 -21 2000 HDGF ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207

Genomic Location for TMEM106B Gene

Chromosome:
7
Start:
12,211,222 bp from pter
End:
12,243,367 bp from pter
Size:
32,146 bases
Orientation:
Plus strand

Genomic View for TMEM106B Gene

Genes around TMEM106B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM106B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM106B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM106B Gene

Proteins for TMEM106B Gene

  • Protein details for TMEM106B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUM4-T106B_HUMAN
    Recommended name:
    Transmembrane protein 106B
    Protein Accession:
    Q9NUM4
    Secondary Accessions:
    • A4D108
    • Q53FL9
    • Q8N4L0

    Protein attributes for TMEM106B Gene

    Size:
    274 amino acids
    Molecular mass:
    31127 Da
    Quaternary structure:
    • Interacts with MAP6.

neXtProt entry for TMEM106B Gene

Post-translational modifications for TMEM106B Gene

  • Ubiquitination at Lys14
  • Glycosylation at Asn145, posLast=151151, posLast=164164, Asn183, and Asn256
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM106B Gene

No data available for DME Specific Peptides for TMEM106B Gene

Domains & Families for TMEM106B Gene

Gene Families for TMEM106B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TMEM106B Gene

Suggested Antigen Peptide Sequences for TMEM106B Gene

Graphical View of Domain Structure for InterPro Entry

Q9NUM4

UniProtKB/Swiss-Prot:

T106B_HUMAN :
  • Belongs to the TMEM106 family.
Family:
  • Belongs to the TMEM106 family.
genes like me logo Genes that share domains with TMEM106B: view

Function for TMEM106B Gene

Molecular function for TMEM106B Gene

UniProtKB/Swiss-Prot Function:
Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with MAP6. May act by inhibiting retrograde transport of lysosomes along dendrites. Required for dendrite branching.

Phenotypes From GWAS Catalog for TMEM106B Gene

Gene Ontology (GO) - Molecular Function for TMEM106B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 24357581
genes like me logo Genes that share ontologies with TMEM106B: view
genes like me logo Genes that share phenotypes with TMEM106B: view

Human Phenotype Ontology for TMEM106B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMEM106B Gene

MGI Knock Outs for TMEM106B:

Animal Model Products

CRISPR Products

miRNA for TMEM106B Gene

miRTarBase miRNAs that target TMEM106B

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM106B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TMEM106B Gene

Localization for TMEM106B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM106B Gene

Late endosome membrane; Single-pass type II membrane protein. Lysosome membrane; Single-pass type II membrane protein. Membrane; Lipid-anchor.

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 TMEM106B gene
Compartment Confidence
extracellular 5
lysosome 5
endosome 5
plasma membrane 3
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endosomes (3)
  • Lysosomes (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM106B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA,IEA --
GO:0005765 lysosomal membrane IEA,IDA 24357581
GO:0005768 endosome IDA,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM106B: view

Pathways & Interactions for TMEM106B Gene

SuperPathways for TMEM106B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM106B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007040 lysosome organization IBA --
GO:0007041 lysosomal transport IBA --
GO:0032418 lysosome localization IMP 24357581
GO:0048813 dendrite morphogenesis IMP 24357581
genes like me logo Genes that share ontologies with TMEM106B: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM106B Gene

Drugs & Compounds for TMEM106B Gene

No Compound Related Data Available

Transcripts for TMEM106B Gene

Unigene Clusters for TMEM106B Gene

Transmembrane protein 106B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM106B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM106B Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7: -
SP8: -
SP9: - -
SP10: -

Relevant External Links for TMEM106B Gene

GeneLoc Exon Structure for
TMEM106B
ECgene alternative splicing isoforms for
TMEM106B

Expression for TMEM106B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM106B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM106B Gene

This gene is overexpressed in Adrenal (14.8), Breast (8.4), Amniocyte (8.1), Testis (6.8), and Pancreas (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM106B Gene



Protein tissue co-expression partners for TMEM106B Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM106B Gene:

TMEM106B

SOURCE GeneReport for Unigene cluster for TMEM106B Gene:

Hs.396358

mRNA Expression by UniProt/SwissProt for TMEM106B Gene:

Q9NUM4-T106B_HUMAN
Tissue specificity: Expressed in frontal cortex.

Evidence on tissue expression from TISSUES for TMEM106B Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Skin(4.2)
  • Stomach(4.2)
genes like me logo Genes that share expression patterns with TMEM106B: 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 TMEM106B Gene

Orthologs for TMEM106B Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM106B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM106B 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia TMEM106B 33
  • 93.8 (n)
-- 34
  • 90 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TMEM106B 33 34
  • 90.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM106B 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem106b 33 16 34
  • 88.81 (n)
rat
(Rattus norvegicus)
Mammalia Tmem106b 33
  • 87.96 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM106B 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM106B 33
  • 80.17 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM106B 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem106b 33
  • 67.4 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem106bb 33 34
  • 68.77 (n)
zgc64013 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToMany
Species where no ortholog for TMEM106B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM106B Gene

ENSEMBL:
Gene Tree for TMEM106B (if available)
TreeFam:
Gene Tree for TMEM106B (if available)

Paralogs for TMEM106B Gene

Paralogs for TMEM106B Gene

(5) SIMAP similar genes for TMEM106B Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TMEM106B: view

Variants for TMEM106B Gene

Sequence variations from dbSNP and Humsavar for TMEM106B Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000027806 -- 12,216,710(+) AGAGG(A/C)GGAAA intron-variant
rs1000055928 -- 12,237,472(+) TATCT(C/T)ATACG downstream-variant-500B
rs1000068433 -- 12,226,798(+) TACGT(A/G)TATGT intron-variant
rs1000085553 -- 12,222,785(+) GCTTG(C/T)ATTAT intron-variant
rs1000199808 -- 12,222,506(+) CACCC(A/G)CCCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM106B Gene

Variant ID Type Subtype PubMed ID
esv3576292 CNV gain 25503493
esv3612244 CNV gain 21293372
esv3612245 CNV gain 21293372
nsv1021710 CNV gain 25217958
nsv606199 CNV gain 21841781
nsv819594 CNV loss 19587683

Variation tolerance for TMEM106B Gene

Residual Variation Intolerance Score: 33.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM106B Gene

Human Gene Mutation Database (HGMD)
TMEM106B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM106B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM106B Gene

Disorders for TMEM106B Gene

MalaCards: The human disease database

(7) MalaCards diseases for TMEM106B Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
progressive non-fluent aphasia
  • non-fluent primary progressive aphasia
dementia, frontotemporal
  • dementia, frontotemporal, with or without parkinsonism
behavioral variant of frontotemporal dementia
  • bv-ftd
frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • ftdals1
basal ganglia disease
  • abnormality of the basal ganglia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

T106B_HUMAN
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1) [MIM:105550]: An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. {ECO:0000269 PubMed:24385136, ECO:0000269 PubMed:24442578, ECO:0000303 PubMed:24488309}. Note=The gene represented in this entry acts as a disease modifier.
  • Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485]: Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease. {ECO:0000269 PubMed:20154673, ECO:0000269 PubMed:21178100, ECO:0000269 PubMed:22895706, ECO:0000269 PubMed:23742080}. Note=The gene represented in this entry acts as a disease modifier. Risk alleles confer genetic susceptibility by increasing gene expression (PubMed:20154673, PubMed:21178100). Increased expression may be the result of down-regulation of microRNA miR-132 and miR-212, that repress TMEM106B expression (PubMed:22895706). Thr-185 is a risk allele associated with lower GRN protein levels and early age at onset in GRN UP-FTD mutation carriers: it presents slower protein degradation that leads to higher steady-state TMEM106B levels, leading to alterations in the intracellular versus extracellular partitioning of GRN (PubMed:23742080). {ECO:0000269 PubMed:20154673, ECO:0000269 PubMed:21178100, ECO:0000269 PubMed:22895706, ECO:0000269 PubMed:23742080}.

Relevant External Links for TMEM106B

Genetic Association Database (GAD)
TMEM106B
Human Genome Epidemiology (HuGE) Navigator
TMEM106B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM106B
genes like me logo Genes that share disorders with TMEM106B: view

No data available for Genatlas for TMEM106B Gene

Publications for TMEM106B Gene

  1. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. (PMID: 20154673) Van Deerlin VM … Lee VM (Nature genetics 2010) 2 3 4 45 60
  2. Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration. (PMID: 22511793) Lang CM … Haass C (The Journal of biological chemistry 2012) 2 3 4 60
  3. The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes. (PMID: 24357581) Schwenk BM … Edbauer D (The EMBO journal 2014) 3 4 60
  4. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. (PMID: 24385136) van Blitterswijk M … Rademakers R (Acta neuropathologica 2014) 3 4 60
  5. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. (PMID: 24442578) Gallagher MD … Chen-Plotkin AS (Acta neuropathologica 2014) 3 4 60

Products for TMEM106B Gene

Sources for TMEM106B Gene

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