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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMEM121 Gene

protein-coding   GIFtS: 38
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TMEM121 Gene: 
TMEM121 (transmembrane protein 121) is a protein-coding gene. GO annotations related to this gene include molecular_function.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences 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
   Search SABiosciences Chromatin IP Primers for TMEM121

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TM121_HUMAN, Q9BTD3 (See protein sequence)
Recommended Name: Transmembrane protein 121  
Size: 319 amino acids; 35814 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)

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

Explore proteomics data for TMEM121 at MOPED 

TMEM121 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

TMEM121 Protein Expression

REFSEQ proteins: NP_079544.1  
ENSEMBL proteins: 
 ENSP00000376304   ENSP00000407456  

Human Recombinant Protein Products for TMEM121: 
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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

TMEM121 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    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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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM121

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TMEM121 (TM121)

Search CenterWatch for drugs/clinical trials and news about 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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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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Inhib. RNA
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Primer
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Additional mRNA sequence: BC004221.2 

2 DOTS entries:

DT.437729  DT.91759106 

24/32 AceView cDNA sequences (see all 32):

AW166083 AI571304 BF513048 AI343284 NM_025268 BF515519 AI360322 BC004221 
BF513595 BG706348 BG706470 AW298035 BI548060 AI371819 AI083899 BG913375 
BI758000 AI039911 BE275761 BG715970 AW264823 AI363893 AI032343 BI546349 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TMEM121 expression in normal human tissues (normalized intensities)      TMEM121 embryonic expression: see
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 
 5/3 selected tissues (see all 3) fully expand
 
 Heart (Cardiovascular System)
         Atrioventricular Node Cells Atrioventricular Node
 
 Umbilical Cord (Extraembryonic Tissues)
         umbilical cord reticulocytes   
 
 Blood (Extraembryonic Tissues)
         umbilical cord reticulocytes   

See TMEM121 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM121

SOURCE GeneReport for Unigene cluster: Hs.157527
    SABiosciences Custom PCR Arrays for TMEM121
Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM121
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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for TMEM121 gene from 4/9 species (see all 9)    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
--
Uncharacterized protein
78(a)
56(a)
1 ↔ 1
possible ortholog
GL343405.1(120892-121827)
GL343961.1(8281-9078)
zebrafish
(Danio rerio)
Actinopterygii LOC7990981 transmembrane protein 121-like 72.84(n)
77.32(a)
  799098  XM_001339456.1  XP_001339492.1 


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)
About This Section
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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/91 SNPs in TMEM121 are shown (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) 10/21 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

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TMEM121 for disorders           About MalaCards

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)
About This Section

PubMed articles for TMEM121 gene integrated from 9 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. (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. (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. (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. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 80757 HGNC: 20511 AceView: MGC4659 Ensembl:ENSG00000184986 euGenes: HUgn80757
ECgene: TMEM121 H-InvDB: TMEM121

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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 inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM121
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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