Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SMIM20 (small integral membrane protein 20)

Identity

Alias (NCBI)C4orf52
MITRAC7
PNX
HGNC (Hugo) SMIM20
HGNC Previous nameC4orf52
HGNC Previous namechromosome 4 open reading frame 52
LocusID (NCBI) 389203
Atlas_Id 73571
Location 4p15.2  [Link to chromosome band 4p15]
Location_base_pair Starts at 25914192 and ends at 25929879 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)

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)SMIM20   37260
Cards
Entrez_Gene (NCBI)SMIM20  389203  small integral membrane protein 20
AliasesC4orf52; MITRAC7; PNX
GeneCards (Weizmann)SMIM20
Ensembl hg19 (Hinxton)ENSG00000250317 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000250317 [Gene_View]  ENSG00000250317 [Sequence]  chr4:25914192-25929879 [Contig_View]  SMIM20 [Vega]
ICGC DataPortalENSG00000250317
TCGA cBioPortalSMIM20
AceView (NCBI)SMIM20
Genatlas (Paris)SMIM20
WikiGenes389203
SOURCE (Princeton)SMIM20
Genetics Home Reference (NIH)SMIM20
Genomic and cartography
GoldenPath hg38 (UCSC)SMIM20  -     chr4:25914192-25929879 +  4p15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMIM20  -     4p15.2   [Description]    (hg19-Feb_2009)
GoldenPathSMIM20 - 4p15.2 [CytoView hg19]  SMIM20 - 4p15.2 [CytoView hg38]
ImmunoBaseENSG00000250317
genome Data Viewer NCBISMIM20 [Mapview hg19]  
OMIM617465   
Gene and transcription
Genbank (Entrez)BC006003 BC014348 BC032431 BC040154 BC046171
RefSeq transcript (Entrez)NM_001145432
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMIM20
Alternative Splicing GalleryENSG00000250317
Gene ExpressionSMIM20 [ NCBI-GEO ]   SMIM20 [ EBI - ARRAY_EXPRESS ]   SMIM20 [ SEEK ]   SMIM20 [ MEM ]
Gene Expression Viewer (FireBrowse)SMIM20 [ Firebrowse - Broad ]
GenevisibleExpression of SMIM20 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)389203
GTEX Portal (Tissue expression)SMIM20
Human Protein AtlasENSG00000250317-SMIM20 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N5G0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N5G0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N5G0
Splice isoforms : SwissVarQ8N5G0
PhosPhoSitePlusQ8N5G0
Domains : Interpro (EBI)SMIM20   
Domain families : Pfam (Sanger)DUF4538 (PF15061)   
Domain families : Pfam (NCBI)pfam15061   
Conserved Domain (NCBI)SMIM20
DMDM Disease mutations389203
Blocks (Seattle)SMIM20
SuperfamilyQ8N5G0
Human Protein Atlas [tissue]ENSG00000250317-SMIM20 [tissue]
Peptide AtlasQ8N5G0
IPIIPI00397994   IPI00942406   IPI01018956   IPI00977604   
Protein Interaction databases
DIP (DOE-UCLA)Q8N5G0
IntAct (EBI)Q8N5G0
FunCoupENSG00000250317
BioGRIDSMIM20
STRING (EMBL)SMIM20
ZODIACSMIM20
Ontologies - Pathways
QuickGOQ8N5G0
Ontology : AmiGOprotein binding  mitochondrial inner membrane  mitochondrial inner membrane  integral component of membrane  mitochondrial respiratory chain complex IV assembly  mitochondrial respiratory chain complex IV assembly  
Ontology : EGO-EBIprotein binding  mitochondrial inner membrane  mitochondrial inner membrane  integral component of membrane  mitochondrial respiratory chain complex IV assembly  mitochondrial respiratory chain complex IV assembly  
NDEx NetworkSMIM20
Atlas of Cancer Signalling NetworkSMIM20
Wikipedia pathwaysSMIM20
Orthology - Evolution
OrthoDB389203
GeneTree (enSembl)ENSG00000250317
Phylogenetic Trees/Animal Genes : TreeFamSMIM20
HOGENOMQ8N5G0
Homologs : HomoloGeneSMIM20
Homology/Alignments : Family Browser (UCSC)SMIM20
Gene fusions - Rearrangements
Fusion : QuiverSMIM20
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMIM20 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMIM20
dbVarSMIM20
ClinVarSMIM20
1000_GenomesSMIM20 
Exome Variant ServerSMIM20
GNOMAD BrowserENSG00000250317
Varsome BrowserSMIM20
Genetic variants : HAPMAP389203
Genomic Variants (DGV)SMIM20 [DGVbeta]
DECIPHERSMIM20 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMIM20 
Mutations
ICGC Data PortalSMIM20 
TCGA Data PortalSMIM20 
Broad Tumor PortalSMIM20
OASIS PortalSMIM20 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMIM20  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSMIM20
Mutations and Diseases : HGMDSMIM20
BioMutasearch SMIM20
DgiDB (Drug Gene Interaction Database)SMIM20
DoCM (Curated mutations)SMIM20 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMIM20 (select a term)
intoGenSMIM20
Cancer3DSMIM20(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617465   
Orphanet
DisGeNETSMIM20
MedgenSMIM20
Genetic Testing Registry SMIM20
NextProtQ8N5G0 [Medical]
TSGene389203
GENETestsSMIM20
Target ValidationSMIM20
Huge Navigator SMIM20 [HugePedia]
snp3D : Map Gene to Disease389203
BioCentury BCIQSMIM20
ClinGenSMIM20
Clinical trials, drugs, therapy
Protein Interactions : CTD389203
Pharm GKB GenePA165663312
Clinical trialSMIM20
Miscellaneous
canSAR (ICR)SMIM20 (select the gene name)
HarmonizomeSMIM20
DataMed IndexSMIM20
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMIM20
EVEXSMIM20
GoPubMedSMIM20
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 : Sat Aug 22 19:34:59 CEST 2020

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.