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TMEM230 (transmembrane protein 230)

Identity

Alias_namesC20orf30
chromosome 20 open reading frame 30
Alias_symbol (synonym)HSPC274
Other aliasdJ1116H23.2.1
HGNC (Hugo) TMEM230
LocusID (NCBI) 29058
Atlas_Id 74894
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 5099838 and ends at 5113087 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TMEM230 (20p13) / TCP1 (6q25.3)

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)TMEM230   15876
Cards
Entrez_Gene (NCBI)TMEM230  29058  transmembrane protein 230
AliasesC20orf30; HSPC274; dJ1116H23.2.1
GeneCards (Weizmann)TMEM230
Ensembl hg19 (Hinxton)ENSG00000089063 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000089063 [Gene_View]  chr20:5099838-5113087 [Contig_View]  TMEM230 [Vega]
ICGC DataPortalENSG00000089063
TCGA cBioPortalTMEM230
AceView (NCBI)TMEM230
Genatlas (Paris)TMEM230
WikiGenes29058
SOURCE (Princeton)TMEM230
Genetics Home Reference (NIH)TMEM230
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM230  -     chr20:5099838-5113087 -  20p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM230  -     20p13   [Description]    (hg19-Feb_2009)
EnsemblTMEM230 - 20p13 [CytoView hg19]  TMEM230 - 20p13 [CytoView hg38]
Mapping of homologs : NCBITMEM230 [Mapview hg19]  TMEM230 [Mapview hg38]
OMIM617019   
Gene and transcription
Genbank (Entrez)AF161392 AK055700 AK309823 AK315606 AL357536
RefSeq transcript (Entrez)NM_001009923 NM_001009924 NM_001009925 NM_001330984 NM_001330985 NM_001330986 NM_001330987 NM_014145
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM230
Cluster EST : UnigeneHs.472024 [ NCBI ]
CGAP (NCI)Hs.472024
Alternative Splicing GalleryENSG00000089063
Gene ExpressionTMEM230 [ NCBI-GEO ]   TMEM230 [ EBI - ARRAY_EXPRESS ]   TMEM230 [ SEEK ]   TMEM230 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM230 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29058
GTEX Portal (Tissue expression)TMEM230
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96A57   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96A57  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96A57
Splice isoforms : SwissVarQ96A57
PhosPhoSitePlusQ96A57
Domains : Interpro (EBI)DUF872_TM   
Domain families : Pfam (Sanger)DUF872 (PF05915)   
Domain families : Pfam (NCBI)pfam05915   
Conserved Domain (NCBI)TMEM230
DMDM Disease mutations29058
Blocks (Seattle)TMEM230
SuperfamilyQ96A57
Human Protein AtlasENSG00000089063
Peptide AtlasQ96A57
HPRD12762
IPIIPI00641887   IPI00746691   IPI00023023   
Protein Interaction databases
DIP (DOE-UCLA)Q96A57
IntAct (EBI)Q96A57
FunCoupENSG00000089063
BioGRIDTMEM230
STRING (EMBL)TMEM230
ZODIACTMEM230
Ontologies - Pathways
QuickGOQ96A57
Ontology : AmiGOearly endosome  late endosome  autophagosome  endoplasmic reticulum  trans-Golgi network  synaptic vesicle  integral component of membrane  cell junction  synaptic vesicle transport  recycling endosome  
Ontology : EGO-EBIearly endosome  late endosome  autophagosome  endoplasmic reticulum  trans-Golgi network  synaptic vesicle  integral component of membrane  cell junction  synaptic vesicle transport  recycling endosome  
NDEx NetworkTMEM230
Atlas of Cancer Signalling NetworkTMEM230
Wikipedia pathwaysTMEM230
Orthology - Evolution
OrthoDB29058
GeneTree (enSembl)ENSG00000089063
Phylogenetic Trees/Animal Genes : TreeFamTMEM230
HOVERGENQ96A57
HOGENOMQ96A57
Homologs : HomoloGeneTMEM230
Homology/Alignments : Family Browser (UCSC)TMEM230
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM230 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM230
dbVarTMEM230
ClinVarTMEM230
1000_GenomesTMEM230 
Exome Variant ServerTMEM230
ExAC (Exome Aggregation Consortium)TMEM230 (select the gene name)
Genetic variants : HAPMAP29058
Genomic Variants (DGV)TMEM230 [DGVbeta]
DECIPHERTMEM230 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM230 
Mutations
ICGC Data PortalTMEM230 
TCGA Data PortalTMEM230 
Broad Tumor PortalTMEM230
OASIS PortalTMEM230 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDTMEM230
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TMEM230
DgiDB (Drug Gene Interaction Database)TMEM230
DoCM (Curated mutations)TMEM230 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM230 (select a term)
intoGenTMEM230
Cancer3DTMEM230(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617019   
Orphanet
MedgenTMEM230
Genetic Testing Registry TMEM230
NextProtQ96A57 [Medical]
TSGene29058
GENETestsTMEM230
Target ValidationTMEM230
Huge Navigator TMEM230 [HugePedia]
snp3D : Map Gene to Disease29058
BioCentury BCIQTMEM230
ClinGenTMEM230
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29058
Chemical/Pharm GKB GenePA25746
Clinical trialTMEM230
Miscellaneous
canSAR (ICR)TMEM230 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM230
EVEXTMEM230
GoPubMedTMEM230
iHOPTMEM230
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:41:53 CEST 2017

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