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TMEM120B Gene

protein-coding   GIFtS: 37
GCID: GC12P122150

Transmembrane Protein 120B

  Search for TMEM120B
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transmembrane Protein 120B1 2

External Ids:    HGNC: 320081   Entrez Gene: 1444042   Ensembl: ENSG000001887357   UniProtKB: A0PK003   

Export aliases for TMEM120B gene to outside databases

Previous GC identifers: GC12P120635 GC12P119162


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TMEM120B Gene:
TMEM120B (transmembrane protein 120B) is a protein-coding gene. An important paralog of this gene is TMEM120A.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM120B gene promoter:
         MEF-2A   MyoD   aMEF-2   RSRFC4   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TMEM120B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM120B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

TMEM120B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM120B gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P122150:  view genomic region     (about GC identifiers)

Start:
122,150,658 bp from pter      End:
122,220,907 bp from pter
Size:
70,250 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: T120B_HUMAN, A0PK00 (See protein sequence)
Recommended Name: Transmembrane protein 120B  
Size: 339 amino acids; 40246 Da
Secondary accessions: A0PK01 B3KX33

Explore the universe of human proteins at neXtProt for TMEM120B: NX_A0PK00

Explore proteomics data for TMEM120B at MOPED


See TMEM120B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001074294.2  
ENSEMBL proteins: 
 ENSP00000345152   ENSP00000404991   ENSP00000442105   ENSP00000446159  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR012926 TMPIT

Graphical View of Domain Structure for InterPro Entry A0PK00

ProtoNet protein and cluster: A0PK00

UniProtKB/Swiss-Prot: T120B_HUMAN, A0PK00
Similarity: Belongs to the TMEM120 family


TMEM120B for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
TMEM120B for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for TMEM120B:
 Decreased viability of wild-ty 

Animal Models:
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miRNA
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Block miRNA regulation of human, mouse, rat TMEM120B using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate TMEM120B (see all 40):
hsa-miR-142-5p hsa-miR-1197 hsa-miR-146a hsa-miR-766 hsa-miR-3921 hsa-miR-298 hsa-miR-23a hsa-miR-4324
Browse SwitchGear 3'UTR luciferase reporter plasmids
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GenScript: all cDNA clones in your preferred vector: TMEM120B (NM_001080825)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM120B

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM120B


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
T120B_HUMAN, A0PK00: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3
cytosol1
nucleus1
peroxisome1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--
GO:0016021integral component of membrane IEA--

TMEM120B for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM120B
Interactions:

    Search GeneGlobe Interaction Network for TMEM120B

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--

TMEM120B for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for TMEM120B (T120B)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for TMEM120B gene: 
NM_001080825.2  

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000342607 ENST00000449592(uc001ubc.4 uc009zxh.3) ENST00000541467
ENST00000540377 ENST00000416147 ENST00000411958 ENST00000538055(uc001uba.1)

miRNA
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Selected qRT-PCR Assays for microRNAs that regulate TMEM120B (see all 40):
hsa-miR-142-5p hsa-miR-1197 hsa-miR-146a hsa-miR-766 hsa-miR-3921 hsa-miR-298 hsa-miR-23a hsa-miR-4324
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat TMEM120B
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OriGene ORF clones in mouse, rat for TMEM120B
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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat TMEM120B

Selected AceView cDNA sequences (see all 119):

CB151057 BF883776 BU854931 BC043395 BU848636 CR617723 BF883909 BM921025 
AA989314 BG574642 AI215890 BM695874 AI752747 AA253358 AW137245 BE257187 
BF059033 BE795727 BC069021 AA613641 BX324308 BM460255 BE856151 CA950779 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TMEM120B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
TMEM120B Expression
About this image

TMEM120B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TMEM120B Protein Expression
    Custom PCR Arrays for TMEM120B
Primer
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QuantiFast Probe-based Assays in human, mouse, rat TMEM120B
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM120B

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for TMEM120B gene from Selected species (see all 18)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tmem120b1 , 5 transmembrane protein 120B1, 5 88.99(n)1
94.4(a)1
  5 (62.75 cM)5
3301891  NM_001039723.21  NP_001034812.11 
 1230684155 
chicken
(Gallus gallus)
Aves TMEM120B6
Gallus gallus transmembrane protein 120B (TMEM120B...
72(a)
1 ↔ 1
15(5597597-5609873)
lizard
(Anolis carolinensis)
Reptilia TMEM120B6
transmembrane protein 120B
86(a)
1 ↔ 1
GL343550.1(218305-225019)
African clawed frog
(Xenopus laevis)
Amphibia Xl.224942 Xenopus laevis transcribed sequence with weak similarity more 74.9(n)    BX851921.1 
zebrafish
(Danio rerio)
Actinopterygii tmem120b1 transmembrane protein 120B 72.57(n)
79.43(a)
  798580  NM_001045230.2  NP_001038695.2 
fruit fly
(Drosophila melanogaster)
Insecta CG327956
--
41(a)
1 → many
X(2676939-2684600)
worm
(Caenorhabditis elegans)
Secernentea M01G5.31 M01G5.3 52.22(n)
44.55(a)
  175305  NM_065013.2  NP_497414.2 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G332301 AT1G33230 41.34(n)
29.87(a)
  840217  NM_103051.4  NP_564420.1 
rice
(Oryza sativa)
Liliopsida Os02g01068001 Os02g0106800 47.28(n)
35.15(a)
  4328022  NM_001052165.1  NP_001045630.1 


ENSEMBL Gene Tree for TMEM120B (if available)
TreeFam Gene Tree for TMEM120B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for TMEM120B gene
TMEM120A2  
1 SIMAP similar gene for TMEM120B using alignment to 3 protein entries:     T120B_HUMAN (see all proteins):
TMEM120A

TMEM120B for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for TMEM120B
PGOHUM00000250885


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TMEM120B (see all 1537)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1848992481,2
--122148747(+) TGCACA/GCAGGA 1 -- us2k10--------
rs753641541,2
F--122148788(+) GGTGAT/CGCAGC 1 -- us2k11Minor allele frequency- C:0.02EA 120
rs572772191,2
C,F--122148823(+) GGAGCC/TCCCCG 1 -- us2k11Minor allele frequency- T:0.50WA 2
rs1409572031,2
--122148828(+) CCCCCA/GCCACC 1 -- us2k10--------
rs79674151,2
C,F,A,H--122148911(+) ccttcC/Gtctca 1 -- us2k1 tfbs3 trp329Minor allele frequency- G:0.34NS EA NA WA CSA 3188
rs1897917851,2
--122148984(+) CTTCCC/TTCCCT 1 -- us2k10--------
rs1121510971,2
C--122148996(+) CTTCC-/TCTT  
        
CTCTC
1 -- us2k11Minor allele frequency- TCTT:0.50CSA 2
rs1997695001,2
--122148998(+) TCCTC-/TTTCTCT 1 -- us2k10--------
rs73982761,2
C,F,A--122149000(+) cctCtC/Ttctct 1 -- us2k1 trp32Minor allele frequency- T:0.50NA WA 4
rs732279581,2
C,F--122149021(+) AGACTC/TAGTTT 1 -- us2k13Minor allele frequency- T:0.07WA NA EA 358

HapMap Linkage Disequilibrium report for TMEM120B (122150658 - 122220907 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for TMEM120B:    About this table    
Variant IDTypeSubtypePubMed ID
esv1943412CNV Deletion18987734
esv2746492CNV Deletion23290073
esv2625237CNV Deletion19546169
esv1527792CNV Insertion17803354
nsv899566CNV Loss21882294
nsv899567CNV Gain21882294
esv22633CNV Gain+Loss19812545

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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TMEM120B for disorders           About GeneDecksing

Genetic Association Database (GAD): TMEM120B
Human Genome Epidemiology (HuGE) Navigator: TMEM120B (2 documents)

Export disorders for TMEM120B gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for TMEM120B gene integrated from 10 sources:
(articles sorted by number of sources associating them with TMEM120B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
  3. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. (PubMed id 24026423)1 Shameer K....Kullo I.J. (Hum. Genet. 2014)
  4. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 144404 HGNC: 32008 AceView: LOC144404 Ensembl:ENSG00000188735 euGenes: HUgn144404
ECgene: TMEM120B H-InvDB: TMEM120B

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for TMEM120B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for TMEM120B gene:
Search GeneIP for patents involving TMEM120B

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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