Aliases for TMEM106B Gene

Aliases for TMEM106B Gene

  • Transmembrane Protein 106B 2 3 4 5
  • TMEM106B 5
  • MGC33727 2
  • FLJ11273 2
  • HLD16 3

External Ids for TMEM106B Gene

Previous GeneCards Identifiers for TMEM106B Gene

  • GC07P012025
  • GC07P012217
  • GC07P012214

Summaries for TMEM106B Gene

GeneCards Summary for TMEM106B Gene

TMEM106B (Transmembrane Protein 106B) is a Protein Coding gene. Diseases associated with TMEM106B include Leukodystrophy, Hypomyelinating, 16 and Pick Disease Of Brain.

UniProtKB/Swiss-Prot Summary 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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM106B Gene

Genomics for TMEM106B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM106B 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
GH07J012210 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 263.1 +0.3 331 3.2 ZNF207 IKZF1 MYC ZNF600 JUND ZNF592 KLF9 POLR2A ATF3 ZSCAN16 TMEM106B HSALNG0056201 NONHSAG046955.2 THSD7A VWDE
GH07J012222 Enhancer 0.6 Ensembl ENCODE 12.8 +11.1 11131 4.4 NR2C1 GABPA NFE2 FOXA1 KDM1A RUNX3 TMEM106B piR-31534-603 HSALNG0056202 NONHSAG046955.2 VWDE
GH07J012297 Enhancer 0.7 Ensembl ENCODE 10.2 +86.6 86631 0.2 ZNF217 ELF1 CTBP1 SMARCE1 DPF2 SP1 FOS RCOR1 VWDE TMEM106B piR-39858-567 FJ601684-417
GH07J012198 Enhancer 0.9 Ensembl ENCODE 7.9 -11.6 -11611 1.4 CEBPA CEBPB HOMEZ FOXA2 MAFF SAP130 TEAD3 FOSL2 JUND FOXP1 TMEM106B VWDE piR-48369-187 THSD7A
GH07J012951 Enhancer 1 Ensembl ENCODE 5.4 +740.5 740453 1 NCOR1 IKZF1 JUND NFIC ZNF217 REST CEBPB HES1 ARNT EP300 TMEM106B ARL4A piR-61240-260 lnc-ARL4A-6 LOC105375158 ENSG00000229618
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM106B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM106B

Top Transcription factor binding sites by QIAGEN in the TMEM106B gene promoter:
  • E47
  • E4BP4
  • ISGF-3
  • ITF-2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Tal-1beta

Genomic Locations for TMEM106B Gene

Latest Assembly
chr7:12,211,270-12,243,367
(GRCh38/hg38)
Size:
32,098 bases
Orientation:
Plus strand

Previous Assembly
chr7:12,250,920-12,282,993
(GRCh37/hg19 by Entrez Gene)
Size:
32,074 bases
Orientation:
Plus strand

chr7:12,250,867-12,282,993
(GRCh37/hg19 by Ensembl)
Size:
32,127 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

  • Glycosylation at Asn145, Asn151, Asn164, Asn183, and Asn256
  • Ubiquitination at Lys14
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • T106B_HUMAN (1849)

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
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for TMEM106B Gene

InterPro:

Suggested Antigen Peptide Sequences for TMEM106B Gene

GenScript: Design optimal peptide antigens:
  • TMEM106B protein (Q8N353_HUMAN)
  • Transmembrane protein 106B (T106B_HUMAN)

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:

miRNA for TMEM106B Gene

miRTarBase miRNAs that target TMEM106B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM106B

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
lysosome 5
endosome 4
plasma membrane 3
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 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 --
GO:0005765 lysosomal membrane IBA,IDA 24357581
GO:0005768 endosome IDA --
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

PathCards logo

SuperPathways for TMEM106B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM106B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007040 lysosome organization IBA 21873635
GO:0007041 lysosomal transport IBA 21873635
GO:0032418 lysosome localization IBA,IMP 24357581
GO:0048813 dendrite morphogenesis IBA,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

mRNA/cDNA for TMEM106B Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM106B

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

Expression for TMEM106B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TMEM106B Gene



Protein tissue co-expression partners for TMEM106B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Skin(4.4)
  • Liver(4.2)
  • Stomach(4.2)
genes like me logo Genes that share expression patterns with TMEM106B: view

Primer products for research

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 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMEM106B 29
  • 93.8 (n)
-- 30
  • 90 (a)
OneToMany
-- 30
  • 82 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia TMEM106B 29 30
  • 90.75 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM106B 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmem106b 29 16 30
  • 88.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmem106b 29
  • 87.96 (n)
Oppossum
(Monodelphis domestica)
Mammalia TMEM106B 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMEM106B 29
  • 80.17 (n)
Lizard
(Anolis carolinensis)
Reptilia TMEM106B 30
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmem106b 29
  • 67.4 (n)
Zebrafish
(Danio rerio)
Actinopterygii tmem106bb 29 30
  • 68.77 (n)
OneToOne
zgc64013 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 34 (a)
OneToMany
Species where no ortholog for TMEM106B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM106B: view image
Alliance of Genome Resources:
Additional Orthologs for TMEM106B

Paralogs for TMEM106B Gene

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

  • T106B_HUMAN
  • C9J998_HUMAN
  • C9JZ87_HUMAN
  • F2Z3N7_HUMAN
  • Q8N353_HUMAN
genes like me logo Genes that share paralogs with TMEM106B: view

No data available for Paralogs for TMEM106B Gene

Variants for TMEM106B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM106B Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1013536 Uncertain Significance: not provided 12,224,243(+) C/T
NM_001134232.2(TMEM106B):c.299C>T (p.Ala100Val)
MISSENSE
1028107 Uncertain Significance: Leukodystrophy, hypomyelinating, 16 12,214,865(+) G/C
NM_001134232.2(TMEM106B):c.55G>C (p.Asp19His)
MISSENSE
rs1222975996 Likely Benign: not provided 12,224,301(+) C/T
NM_001134232.2(TMEM106B):c.357C>T (p.Arg119=)
SYNONYMOUS
rs143448984 Likely Benign: not provided 12,214,926(+) A/T
NM_001134232.2(TMEM106B):c.116A>T (p.Asp39Val)
MISSENSE
rs148896284 Benign: not provided 12,214,912(+) A/G
NM_001134232.2(TMEM106B):c.102A>G (p.Glu34=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMEM106B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for TMEM106B Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for TMEM106B Gene

MalaCards: The human disease database

(19) MalaCards diseases for TMEM106B Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 16
  • hld16
pick disease of brain
  • lobar atrophy of brain
semantic dementia
  • semantic primary progressive aphasia
progressive non-fluent aphasia
  • non-fluent primary progressive aphasia
frontotemporal dementia
  • ftd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

T106B_HUMAN
  • 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}.
  • 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.
  • Leukodystrophy, hypomyelinating, 16 (HLD16) [MIM:617964]: An autosomal dominant disorder characterized by hypomyelination, leukodystrophy, and thin corpus callosum observed on brain imaging. Clinical features include hypotonia, nystagmus, and mildly delayed motor development with onset in infancy, ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. {ECO:0000269 PubMed:29186371, ECO:0000269 PubMed:29444210}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for TMEM106B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 40
  2. A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. (PMID: 29186371) Simons C … Wolf NI (Brain : a journal of neurology 2017) 3 4 72
  3. 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
  4. The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. (PMID: 29444210) Yan H … Burmeister M (Brain : a journal of neurology 2018) 4 72
  5. TMEM106B, a risk factor for FTLD and aging, has an intrinsically disordered cytoplasmic domain. (PMID: 30332472) Kang J … Song J (PloS one 2018) 2 3

Products for TMEM106B Gene

Sources for TMEM106B Gene