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TMEM246 (transmembrane protein 246)

Identity

Alias_namesC9orf125
chromosome 9 open reading frame 125
Alias_symbol (synonym)MGC12992
Other alias
HGNC (Hugo) TMEM246
LocusID (NCBI) 84302
Atlas_Id 74909
Location 9q31.1  [Link to chromosome band 9q31]
Location_base_pair Starts at 101473158 and ends at 101487221 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
NR1I2 (3q13.33) / TMEM246 (9q31.1)TMEM246 (9q31.1) / TMEM246 (9q31.1)TMEM246 (9q31.1) / TUBA1B (12q13.12)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)TMEM246   28180
Cards
Entrez_Gene (NCBI)TMEM246  84302  transmembrane protein 246
AliasesC9orf125
GeneCards (Weizmann)TMEM246
Ensembl hg19 (Hinxton)ENSG00000165152 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165152 [Gene_View]  ENSG00000165152 [Sequence]  chr9:101473158-101487221 [Contig_View]  TMEM246 [Vega]
ICGC DataPortalENSG00000165152
TCGA cBioPortalTMEM246
AceView (NCBI)TMEM246
Genatlas (Paris)TMEM246
WikiGenes84302
SOURCE (Princeton)TMEM246
Genetics Home Reference (NIH)TMEM246
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM246  -     chr9:101473158-101487221 -  9q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM246  -     9q31.1   [Description]    (hg19-Feb_2009)
GoldenPathTMEM246 - 9q31.1 [CytoView hg19]  TMEM246 - 9q31.1 [CytoView hg38]
ImmunoBaseENSG00000165152
Mapping of homologs : NCBITMEM246 [Mapview hg19]  TMEM246 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AJ420439 AK094413 AK313981 AL521069 BC006115
RefSeq transcript (Entrez)NM_001303107 NM_001303108 NM_001371233 NM_032342
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM246
Cluster EST : UnigeneHs.655738 [ NCBI ]
CGAP (NCI)Hs.655738
Alternative Splicing GalleryENSG00000165152
Gene ExpressionTMEM246 [ NCBI-GEO ]   TMEM246 [ EBI - ARRAY_EXPRESS ]   TMEM246 [ SEEK ]   TMEM246 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM246 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84302
GTEX Portal (Tissue expression)TMEM246
Human Protein AtlasENSG00000165152-TMEM246 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BRR3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BRR3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BRR3
Splice isoforms : SwissVarQ9BRR3
PhosPhoSitePlusQ9BRR3
Domains : Interpro (EBI)TMEM246   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)TMEM246
DMDM Disease mutations84302
Blocks (Seattle)TMEM246
SuperfamilyQ9BRR3
Human Protein Atlas [tissue]ENSG00000165152-TMEM246 [tissue]
Peptide AtlasQ9BRR3
HPRD12940
IPIIPI00031619   
Protein Interaction databases
DIP (DOE-UCLA)Q9BRR3
IntAct (EBI)Q9BRR3
FunCoupENSG00000165152
BioGRIDTMEM246
STRING (EMBL)TMEM246
ZODIACTMEM246
Ontologies - Pathways
QuickGOQ9BRR3
Ontology : AmiGOintegral component of membrane  
Ontology : EGO-EBIintegral component of membrane  
NDEx NetworkTMEM246
Atlas of Cancer Signalling NetworkTMEM246
Wikipedia pathwaysTMEM246
Orthology - Evolution
OrthoDB84302
GeneTree (enSembl)ENSG00000165152
Phylogenetic Trees/Animal Genes : TreeFamTMEM246
HOGENOMQ9BRR3
Homologs : HomoloGeneTMEM246
Homology/Alignments : Family Browser (UCSC)TMEM246
Gene fusions - Rearrangements
Fusion : QuiverTMEM246
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM246 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM246
dbVarTMEM246
ClinVarTMEM246
1000_GenomesTMEM246 
Exome Variant ServerTMEM246
ExAC (Exome Aggregation Consortium)ENSG00000165152
GNOMAD BrowserENSG00000165152
Varsome BrowserTMEM246
Genetic variants : HAPMAP84302
Genomic Variants (DGV)TMEM246 [DGVbeta]
DECIPHERTMEM246 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM246 
Mutations
ICGC Data PortalTMEM246 
TCGA Data PortalTMEM246 
Broad Tumor PortalTMEM246
OASIS PortalTMEM246 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDTMEM246
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TMEM246
DgiDB (Drug Gene Interaction Database)TMEM246
DoCM (Curated mutations)TMEM246 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM246 (select a term)
intoGenTMEM246
Cancer3DTMEM246(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETTMEM246
MedgenTMEM246
Genetic Testing Registry TMEM246
NextProtQ9BRR3 [Medical]
TSGene84302
GENETestsTMEM246
Target ValidationTMEM246
Huge Navigator TMEM246 [HugePedia]
snp3D : Map Gene to Disease84302
BioCentury BCIQTMEM246
ClinGenTMEM246
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84302
Chemical/Pharm GKB GenePA134867545
Clinical trialTMEM246
Miscellaneous
canSAR (ICR)TMEM246 (select the gene name)
DataMed IndexTMEM246
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM246
EVEXTMEM246
GoPubMedTMEM246
iHOPTMEM246
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 16:10:34 CEST 2019
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