TMEM246 Gene
protein-coding GIFtS: 38
GCID: GC09M104236
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Transmembrane Protein 246(Previous name: chromosome 9 open reading frame 125)
(Previous symbol: C9orf125)
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Aliases
for TMEM246 gene
(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 2461 2 | | C9orf1251 2 3 | | Chromosome 9 Open Reading Frame 1251 | | Transmembrane Protein C9orf1252 |
Export aliases for TMEM246 gene to outside databases |
Summaries
for TMEM246 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
GeneCards Summary for TMEM246 Gene: 
TMEM246 (transmembrane protein 246) is a protein-coding gene.
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Genomic Views
for TMEM246 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 73),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NT_008470.19 NC_018920.2
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for TMEM246
Other transcription factors
Search SABiosciences Chromatin IP Primers for TMEM246
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM246 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q31.1 Ensembl cytogenetic band: 9q31.1 HGNC cytogenetic band: 9q31.1TMEM246 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M104236: view genomic region
(about GC identifiers)
Start:
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104,235,453 bp from pter |
End:
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104,295,819 bp from pter |
Size:
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60,367 bases |
Orientation:
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minus strand |
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Proteins
for TMEM246 gene
(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: TM246_HUMAN, Q9BRR3 (See
protein sequence)Recommended Name: Transmembrane protein 246 Size: 403 amino acids; 46588 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q49AQ4Explore the universe of human proteins at neXtProt for TMEM246: NX_Q9BRR3
Explore proteomics data for TMEM246 at MOPED
Post-translational modifications:
View modification sites using PhosphoSitePlusView neXtProt modification sites for NX_Q9BRR3
TMEM246 Protein expression data from MOPED1, PaxDb2 and
MAXQB3 : About this image 
REFSEQ proteins: NP_115718.1
ENSEMBL proteins: ENSP00000363980 ENSP00000363981 ENSP00000363984
Human Recombinant Protein Products for TMEM246:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
TMEM246 for ontologies About GeneDecksing
TMEM246 Antibody Products:
Assay Products for TMEM246: |
Protein
Domains /
Families
for TMEM246 gene(According to HGNC, IUPHAR, InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9BRR3 UniProtKB/Swiss-Prot: TM246_HUMAN, Q9BRR3Similarity: Belongs to the TMEM246 family |
Function
for TMEM246 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Oct 2013 via
Entrez Gene.)
About This Section
|
Phenotypes:
1 GenomeRNAi human phenotype for TMEM246:
Animal Models:
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM246 |
|
Pathways & Interactions
for TMEM246 gene
(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 TMEM246
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for TMEM246 (ENSP000003639804) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for TMEM246 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
IUPHAR,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for TMEM246 (TM246)
Search CenterWatch for drugs/clinical trials and news about TMEM246 / TM246
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Transcripts
for TMEM246 gene(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,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TMEM246 gene: NM_032342.1 Unigene Cluster for TMEM246: Transmembrane protein 246 Hs.655738 [show with all ESTs]Unigene Representative Sequence: BC0012094 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000374847 ENST00000374848(uc004bbm.3) ENST00000374851 ENST00000482920
Additional mRNA sequence: AK313981.1 BC001209.1 BC006115.1 BC033550.1 BC113967.1 4 DOTS entries: DT.97869902 DT.100775738 DT.100047586 DT.100705634 24/99 AceView cDNA sequences (see all 99): BI838369 CK906095 CR605218 AA324731 BM694245 BM126838 CR613609 BC006115 F12489 BM127453 NM_032342 AL542387 CA390911 BU733116 BC033550 F10108 BX409704 AW770554 BE265669 BI549377 AW136225 BE840625 AL522885 AL599246
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM246 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b |
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| SP1: | | | | | | | | | | | |
| SP2: | | | | | - | | | | | |
ECgene alternative splicing isoforms for TMEM246
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Expression
for TMEM246 gene
(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
| TMEM246 expression in normal human tissues
(normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGGATAGATT
About this image
See TMEM246 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM246
SOURCE GeneReport for Unigene cluster: Hs.655738
SABiosciences Custom PCR Arrays for TMEM246
Primer
Products: |  | OriGene qPCR primer pairs and template standards for TMEM246
OriGene qSTAR qPCR primer pairs in human, mouse for TMEM246
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat TMEM246 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM246 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM246 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM246 |
Orthologs
for TMEM246 gene
(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
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This gene was present in the common ancestor of animals.
Orthologs for TMEM246 gene from 6/11 species (see all 11) About this table
ENSEMBL Gene Tree for TMEM246 (if available)
TreeFam Gene Tree for TMEM246 (if available) |
Paralogs
for TMEM246 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TMEM246 gene
1 SIMAP similar gene for TMEM246 using alignment to 1 protein entry: TM246_HUMAN:C9orf125
TMEM246 for paralogs About GeneDecksing
|
Genomic Variants
for TMEM246 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for TMEM246 (104235453 - 104295819 bp)
Structural Variations
Database of Genomic Variants (DGV) variations for TMEM246: --
| | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMEM246 |
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Disorders
/ Diseases
for TMEM246 gene
(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
| -- |
Publications
for TMEM246 gene (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 TMEM246 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TMEM246) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- 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)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
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External Searches for TMEM246 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing TMEM246 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
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Other Databases showing TMEM246 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TMEM246 gene(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
|
| Name | Description |
| PharmGKB entry for TMEM246 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for TMEM246 gene:
Search GeneIP for patents involving TMEM246
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TMEM246 gene(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, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
About This Section
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TMEM246 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMEM246 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM246 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM246 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM246 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM246 |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM246 |
|  |  |  |  | | | | ThermoFisher Antibodies for TMEM246 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM246 |
| |  |  | | | | LSBio Antibodies in human, mouse, rat for TMEM246 |
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