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TMEM121 Gene

protein-coding   GIFtS: 40
GCID: GC14P105992

Transmembrane Protein 121

  Search for TMEM121
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 1211 2
hole2

External Ids:    HGNC: 205111   Entrez Gene: 807572   Ensembl: ENSG000001849867   UniProtKB: Q9BTD33   

Export aliases for TMEM121 gene to outside databases

Previous GC identifers: GC14P105064 GC14P086193


(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 TMEM121 Gene:
TMEM121 (transmembrane protein 121) is a protein-coding gene.


(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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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM121 gene promoter:
         GR   RFX1   AML1a   GR-beta   Pax-2   Pax-2a   GR-alpha   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM121


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

Entrez Gene cytogenetic band: 14q32.33   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

TMEM121 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM121 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P105992:  view genomic region     (about GC identifiers)

Start:
105,992,940 bp from pter      End:
105,996,539 bp from pter
Size:
3,600 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: TM121_HUMAN, Q9BTD3 (See protein sequence)
Recommended Name: Transmembrane protein 121  
Size: 319 amino acids; 35814 Da

Explore the universe of human proteins at neXtProt for TMEM121: NX_Q9BTD3

Explore proteomics data for TMEM121 at MOPED


See TMEM121 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_079544.1  
ENSEMBL proteins: 
 ENSP00000376304   ENSP00000407456  

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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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ProtoNet protein and cluster: Q9BTD3


(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--
     
TMEM121 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for TMEM121:
 Decreased viability with pacli 

Animal Models:
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hsa-mir-124-3p (MIRT022408)

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Selected qRT-PCR Assays for microRNAs that regulate TMEM121 (see all 19):
hsa-miR-30c hsa-miR-3607-3p hsa-miR-30d hsa-miR-548a-3p hsa-miR-548g hsa-miR-30a hsa-miR-1323 hsa-miR-924
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(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
TM121_HUMAN, Q9BTD3: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3

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--

TMEM121 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 TMEM121
Interactions:

    Search GeneGlobe Interaction Network for TMEM121

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

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

TMEM121 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 TMEM121 (TM121)



(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 TMEM121 gene: 
NM_025268.2  

Unigene Cluster for TMEM121:

Transmembrane protein 121
Hs.157527  [show with all ESTs]
Unigene Representative Sequence: NM_025268
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000392519(uc001yrp.1) ENST00000552019 ENST00000431372
miRNA
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Additional mRNA sequence: BC004221.2 

2 DOTS entries:

DT.437729  DT.91759106 

Selected AceView cDNA sequences (see all 32):

BF513048 AI343284 BF515519 AI360322 BC004221 AI571304 NM_025268 AW166083 
AW298035 AI371819 BI548060 AI083899 BI758000 BG706348 AI039911 BG913375 
BG706470 BE275761 BF513595 BI114248 BG715970 AI916236 BM919424 AI363893 

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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TMEM121 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGATGGGGTG
TMEM121 Expression
About this image


TMEM121 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Heart (Cardiovascular System)
         Atrioventricular Node Cells Atrioventricular Node
TMEM121 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TMEM121 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.157527
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM121

(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 chordates.

Orthologs for TMEM121 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tmem1211 , 5 transmembrane protein 1211, 5 88.68(n)1
97.48(a)1
  12 (61.76 cM)5
691951  NM_153776.21  NP_722471.21 
 1131859035 
chicken
(Gallus gallus)
Aves TMEM1211 transmembrane protein 121 76.39(n)
77.56(a)
  395216  NM_204539.1  NP_989870.1 
lizard
(Anolis carolinensis)
Reptilia TMEM1216
transmembrane protein 121
78(a)
1 ↔ 1
GL343405.1(120892-121827)
tropical clawed frog
(Xenopus tropicalis)
Amphibia tmem1211 transmembrane protein 121 64.32(n)
76.28(a)
  100495589  XM_004917313.1  XP_004917370.1 
zebrafish
(Danio rerio)
Actinopterygii LOC7990981 transmembrane protein 121-like 72.84(n)
77.32(a)
  799098  XM_005158744.1  XP_005158801.1 


ENSEMBL Gene Tree for TMEM121 (if available)
TreeFam Gene Tree for TMEM121 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for TMEM121 gene

TMEM121 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for TMEM121
PGOHUM00000240619


(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 TMEM121 (see all 91)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 14 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1507827101,2
--105991056(+) CGGCT-/GGTTGA 1 -- us2k10--------
rs1420423691,2
C--105991242(+) CAAATA/GGGCTC 1 -- us2k10--------
rs1832458631,2
--105991346(+) TGGGAC/TGTGGG 1 -- us2k10--------
rs757039451,2
C,F--105991347(+) GGGACG/ATGGGC 1 -- us2k11Minor allele frequency- A:0.02WA 118
rs733737211,2
C--105991420(+) CATCAT/AGTATG 1 -- us2k11Minor allele frequency- A:0.50WA 2
rs742463421,2
C,F--105991424(+) ATGTAT/CGGCTT 1 -- us2k14Minor allele frequency- C:0.21CSA WA EA 242
rs1458023361,2
--105991674(+) GTCTCA/GAACTC 1 -- us2k10--------
rs1129030161,2
C,F--105991736(+) GGTGTG/AAGCCA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
rs787793741,2
C,F--105991804(+) CGACAG/AGGGAC 1 -- us2k11Minor allele frequency- A:0.13EA 120
rs764132841,2
C--105991851(+) CTCAGC/TGTTTT 1 -- us2k13Minor allele frequency- T:0.12CSA WA EA 240

HapMap Linkage Disequilibrium report for TMEM121 (105992940 - 105996539 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for TMEM121 (see all 21):    About this table    
Variant IDTypeSubtypePubMed ID
esv2673275CNV Deletion23128226
nsv1441CNV Insertion18451855
dgv2033n71CNV Loss21882294
dgv2025n71CNV Loss21882294
dgv2042n71CNV Loss21882294
nsv902490CNV Loss21882294
dgv2035n71CNV Loss21882294
dgv2037n71CNV Loss21882294
nsv902480CNV Loss21882294
dgv2024n71CNV Loss21882294

Human Gene Mutation Database (HGMD): TMEM121
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing TMEM121
DNA2.0 Custom Variant and Variant Library Synthesis for TMEM121

(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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TMEM121 for disorders           About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: TMEM121 (1 document)

Export disorders for TMEM121 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 TMEM121 gene integrated from 10 sources:
(articles sorted by number of sources associating them with TMEM121)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  2. Hole is a novel gene product expressed in the developing heart and brain. (PubMed id 12204283)1, 3 Nesset A.L. and Bader D.M. (Mech. Dev. 2002)
  3. Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease. (PubMed id 20714865)1 Zhang Y....Wang J. (J. Huazhong Univ. Sci. Technol. Med. Sci. 2010)
  4. 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: 80757 HGNC: 20511 AceView: MGC4659 Ensembl:ENSG00000184986 euGenes: HUgn80757
ECgene: TMEM121 H-InvDB: TMEM121

(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 TMEM121 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 TMEM121 gene:
Search GeneIP for patents involving TMEM121

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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 ELISAs for TMEM121
 CLIAs for TMEM121



 Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM121
 Gene Synthesis
 Protein Engineering
 Variant Library Synthesis
 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM121
 Browse SwitchGear 3'UTR luciferase reporter plasmids for TMEM121
 Browse SwitchGear Promoter luciferase reporter plasmids for TMEM121
 Search ThermoFisher Antibodies for TMEM121
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM121
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM121
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TMEM121
 LSBio Antibodies in human, mouse, rat for TMEM121
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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