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TMEM30A (transmembrane protein 30A)

Identity

Alias_namesC6orf67
chromosome 6 open reading frame 67
Alias_symbol (synonym)FLJ10856
CDC50A
Other alias
HGNC (Hugo) TMEM30A
LocusID (NCBI) 55754
Atlas_Id 53694
Location 6q14.1  [Link to chromosome band 6q14]
Location_base_pair Starts at 75252922 and ends at 75284916 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)
TMEM30A (6q14.1) / FILIP1 (6q14.1)TMEM30A (6q14.1) / INS-IGF2 (11p15.5)TMEM30A (6q14.1) / TPRG1L (1p36.32)
TMEM30A 6q14.1 / FILIP1 6q14.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  TMEM30A/FILIP1 (6q14)


External links

Nomenclature
HGNC (Hugo)TMEM30A   16667
Cards
Entrez_Gene (NCBI)TMEM30A  55754  transmembrane protein 30A
AliasesC6orf67; CDC50A
GeneCards (Weizmann)TMEM30A
Ensembl hg19 (Hinxton)ENSG00000112697 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112697 [Gene_View]  ENSG00000112697 [Sequence]  chr6:75252922-75284916 [Contig_View]  TMEM30A [Vega]
ICGC DataPortalENSG00000112697
TCGA cBioPortalTMEM30A
AceView (NCBI)TMEM30A
Genatlas (Paris)TMEM30A
WikiGenes55754
SOURCE (Princeton)TMEM30A
Genetics Home Reference (NIH)TMEM30A
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM30A  -     chr6:75252922-75284916 -  6q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM30A  -     6q14.1   [Description]    (hg19-Feb_2009)
EnsemblTMEM30A - 6q14.1 [CytoView hg19]  TMEM30A - 6q14.1 [CytoView hg38]
Mapping of homologs : NCBITMEM30A [Mapview hg19]  TMEM30A [Mapview hg38]
OMIM611028   
Gene and transcription
Genbank (Entrez)AA599967 AJ420517 AK001718 AK022883 AK292823
RefSeq transcript (Entrez)NM_001143958 NM_018247
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM30A
Cluster EST : UnigeneHs.108530 [ NCBI ]
CGAP (NCI)Hs.108530
Alternative Splicing GalleryENSG00000112697
Gene ExpressionTMEM30A [ NCBI-GEO ]   TMEM30A [ EBI - ARRAY_EXPRESS ]   TMEM30A [ SEEK ]   TMEM30A [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM30A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55754
GTEX Portal (Tissue expression)TMEM30A
Human Protein AtlasENSG00000112697-TMEM30A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NV96   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NV96  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NV96
Splice isoforms : SwissVarQ9NV96
PhosPhoSitePlusQ9NV96
Domains : Interpro (EBI)CDC50/LEM3_fam    TMEM30A   
Domain families : Pfam (Sanger)CDC50 (PF03381)   
Domain families : Pfam (NCBI)pfam03381   
Conserved Domain (NCBI)TMEM30A
DMDM Disease mutations55754
Blocks (Seattle)TMEM30A
SuperfamilyQ9NV96
Human Protein Atlas [tissue]ENSG00000112697-TMEM30A [tissue]
Peptide AtlasQ9NV96
HPRD15535
IPIIPI00019381   IPI00062679   IPI00760748   IPI01012345   IPI00984141   
Protein Interaction databases
DIP (DOE-UCLA)Q9NV96
IntAct (EBI)Q9NV96
FunCoupENSG00000112697
BioGRIDTMEM30A
STRING (EMBL)TMEM30A
ZODIACTMEM30A
Ontologies - Pathways
QuickGOQ9NV96
Ontology : AmiGOphospholipid-translocating ATPase activity  protein binding  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  plasma membrane  drug transmembrane transport  positive regulation of neuron projection development  aminophospholipid transmembrane transporter activity  aminophospholipid transmembrane transporter activity  aminophospholipid transport  membrane  integral component of membrane  apical plasma membrane  transport vesicle membrane  azurophil granule membrane  specific granule membrane  protein localization to endosome  neutrophil degranulation  phospholipid translocation  positive regulation of protein exit from endoplasmic reticulum  
Ontology : EGO-EBIphospholipid-translocating ATPase activity  protein binding  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  plasma membrane  drug transmembrane transport  positive regulation of neuron projection development  aminophospholipid transmembrane transporter activity  aminophospholipid transmembrane transporter activity  aminophospholipid transport  membrane  integral component of membrane  apical plasma membrane  transport vesicle membrane  azurophil granule membrane  specific granule membrane  protein localization to endosome  neutrophil degranulation  phospholipid translocation  positive regulation of protein exit from endoplasmic reticulum  
NDEx NetworkTMEM30A
Atlas of Cancer Signalling NetworkTMEM30A
Wikipedia pathwaysTMEM30A
Orthology - Evolution
OrthoDB55754
GeneTree (enSembl)ENSG00000112697
Phylogenetic Trees/Animal Genes : TreeFamTMEM30A
HOVERGENQ9NV96
HOGENOMQ9NV96
Homologs : HomoloGeneTMEM30A
Homology/Alignments : Family Browser (UCSC)TMEM30A
Gene fusions - Rearrangements
Fusion : MitelmanTMEM30A/FILIP1 [6q14.1/6q14.1]  
Fusion PortalTMEM30A 6q14.1 FILIP1 6q14.1 LUSC
Fusion : QuiverTMEM30A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM30A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM30A
dbVarTMEM30A
ClinVarTMEM30A
1000_GenomesTMEM30A 
Exome Variant ServerTMEM30A
ExAC (Exome Aggregation Consortium)ENSG00000112697
GNOMAD BrowserENSG00000112697
Varsome BrowserTMEM30A
Genetic variants : HAPMAP55754
Genomic Variants (DGV)TMEM30A [DGVbeta]
DECIPHERTMEM30A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM30A 
Mutations
ICGC Data PortalTMEM30A 
TCGA Data PortalTMEM30A 
Broad Tumor PortalTMEM30A
OASIS PortalTMEM30A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM30A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM30A
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 TMEM30A
DgiDB (Drug Gene Interaction Database)TMEM30A
DoCM (Curated mutations)TMEM30A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM30A (select a term)
intoGenTMEM30A
Cancer3DTMEM30A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611028   
Orphanet
DisGeNETTMEM30A
MedgenTMEM30A
Genetic Testing Registry TMEM30A
NextProtQ9NV96 [Medical]
TSGene55754
GENETestsTMEM30A
Target ValidationTMEM30A
Huge Navigator TMEM30A [HugePedia]
snp3D : Map Gene to Disease55754
BioCentury BCIQTMEM30A
ClinGenTMEM30A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55754
Chemical/Pharm GKB GenePA134936902
Clinical trialTMEM30A
Miscellaneous
canSAR (ICR)TMEM30A (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM30A
EVEXTMEM30A
GoPubMedTMEM30A
iHOPTMEM30A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:45:36 CET 2018

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