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TMEM123 (transmembrane protein 123)

Identity

Alias_symbol (synonym)PORIMIN
KCT3
Other aliasPORMIN
HGNC (Hugo) TMEM123
LocusID (NCBI) 114908
Atlas_Id 74785
Location 11q22.2  [Link to chromosome band 11q22]
Location_base_pair Starts at 102396325 and ends at 102453044 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SERPINA1 (14q32.13) / TMEM123 (11q22.2)STK17A (7p13) / TMEM123 (11q22.2)TMEM123 (11q22.2) / BIRC2 (11q22.2)
TMEM123 (11q22.2) / CNTN5 (11q22.1)TMEM123 (11q22.2) / MMP20 (11q22.2)TMEM123 (11q22.2) / MMP27 (11q22.2)
TMEM123 (11q22.2) / MMP7 (11q22.2)TMEM123 (11q22.2) / PICALM (11q14.2)TMEM123 (11q22.2) / TMEM123 (11q22.2)
TMEM123 (11q22.2) / YAP1 (11q22.1)TMEM123 MMP27TMEM123 CNTN5
TMEM123 MMP20TMEM123 MMP7

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)TMEM123   30138
Cards
Entrez_Gene (NCBI)TMEM123  114908  transmembrane protein 123
AliasesKCT3; PORIMIN; PORMIN
GeneCards (Weizmann)TMEM123
Ensembl hg19 (Hinxton)ENSG00000152558 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152558 [Gene_View]  chr11:102396325-102453044 [Contig_View]  TMEM123 [Vega]
ICGC DataPortalENSG00000152558
TCGA cBioPortalTMEM123
AceView (NCBI)TMEM123
Genatlas (Paris)TMEM123
WikiGenes114908
SOURCE (Princeton)TMEM123
Genetics Home Reference (NIH)TMEM123
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM123  -     chr11:102396325-102453044 -  11q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM123  -     11q22.2   [Description]    (hg19-Feb_2009)
EnsemblTMEM123 - 11q22.2 [CytoView hg19]  TMEM123 - 11q22.2 [CytoView hg38]
Mapping of homologs : NCBITMEM123 [Mapview hg19]  TMEM123 [Mapview hg38]
OMIM606356   
Gene and transcription
Genbank (Entrez)AJ293406 AK026572 AK075420 AK225790 AL050161
RefSeq transcript (Entrez)NM_052932
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM123
Cluster EST : UnigeneHs.503709 [ NCBI ]
CGAP (NCI)Hs.503709
Alternative Splicing GalleryENSG00000152558
Gene ExpressionTMEM123 [ NCBI-GEO ]   TMEM123 [ EBI - ARRAY_EXPRESS ]   TMEM123 [ SEEK ]   TMEM123 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM123 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)114908
GTEX Portal (Tissue expression)TMEM123
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N131   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N131  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N131
Splice isoforms : SwissVarQ8N131
PhosPhoSitePlusQ8N131
Domains : Interpro (EBI)CD164_MGC24   
Domain families : Pfam (Sanger)MGC-24 (PF05283)   
Domain families : Pfam (NCBI)pfam05283   
Conserved Domain (NCBI)TMEM123
DMDM Disease mutations114908
Blocks (Seattle)TMEM123
SuperfamilyQ8N131
Human Protein AtlasENSG00000152558
Peptide AtlasQ8N131
IPIIPI00217366   IPI00395888   IPI00976631   IPI00975960   IPI00976201   
Protein Interaction databases
DIP (DOE-UCLA)Q8N131
IntAct (EBI)Q8N131
FunCoupENSG00000152558
BioGRIDTMEM123
STRING (EMBL)TMEM123
ZODIACTMEM123
Ontologies - Pathways
QuickGOQ8N131
Ontology : AmiGOreceptor activity  protein binding  external side of plasma membrane  integral component of membrane  oncosis  
Ontology : EGO-EBIreceptor activity  protein binding  external side of plasma membrane  integral component of membrane  oncosis  
NDEx NetworkTMEM123
Atlas of Cancer Signalling NetworkTMEM123
Wikipedia pathwaysTMEM123
Orthology - Evolution
OrthoDB114908
GeneTree (enSembl)ENSG00000152558
Phylogenetic Trees/Animal Genes : TreeFamTMEM123
HOVERGENQ8N131
HOGENOMQ8N131
Homologs : HomoloGeneTMEM123
Homology/Alignments : Family Browser (UCSC)TMEM123
Gene fusions - Rearrangements
Fusion: TCGATMEM123 MMP27
Fusion: TCGATMEM123 CNTN5
Fusion: TCGATMEM123 MMP20
Fusion: TCGATMEM123 MMP7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM123 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM123
dbVarTMEM123
ClinVarTMEM123
1000_GenomesTMEM123 
Exome Variant ServerTMEM123
ExAC (Exome Aggregation Consortium)TMEM123 (select the gene name)
Genetic variants : HAPMAP114908
Genomic Variants (DGV)TMEM123 [DGVbeta]
DECIPHERTMEM123 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM123 
Mutations
ICGC Data PortalTMEM123 
TCGA Data PortalTMEM123 
Broad Tumor PortalTMEM123
OASIS PortalTMEM123 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM123  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM123
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 TMEM123
DgiDB (Drug Gene Interaction Database)TMEM123
DoCM (Curated mutations)TMEM123 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM123 (select a term)
intoGenTMEM123
Cancer3DTMEM123(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606356   
Orphanet
MedgenTMEM123
Genetic Testing Registry TMEM123
NextProtQ8N131 [Medical]
TSGene114908
GENETestsTMEM123
Target ValidationTMEM123
Huge Navigator TMEM123 [HugePedia]
snp3D : Map Gene to Disease114908
BioCentury BCIQTMEM123
ClinGenTMEM123
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD114908
Chemical/Pharm GKB GenePA143485643
Clinical trialTMEM123
Miscellaneous
canSAR (ICR)TMEM123 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM123
EVEXTMEM123
GoPubMedTMEM123
iHOPTMEM123
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:45:49 CEST 2017

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