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SNX12 (sorting nexin 12)

Identity

Other alias-
HGNC (Hugo) SNX12
LocusID (NCBI) 29934
Atlas_Id 74046
Location Xq13.1  [Link to chromosome band Xq13]
Location_base_pair Starts at 70279097 and ends at 70293276 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COL26A1 (7q22.1) / SNX12 (Xq13.1)SNX12 (Xq13.1) / MMP2 (16q12.2)SNX12 (Xq13.1) / RMND5B (5q35.3)

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)SNX12   14976
Cards
Entrez_Gene (NCBI)SNX12  29934  sorting nexin 12
Aliases
GeneCards (Weizmann)SNX12
Ensembl hg19 (Hinxton)ENSG00000147164 [Gene_View]  chrX:70279097-70293276 [Contig_View]  SNX12 [Vega]
Ensembl hg38 (Hinxton)ENSG00000147164 [Gene_View]  chrX:70279097-70293276 [Contig_View]  SNX12 [Vega]
ICGC DataPortalENSG00000147164
TCGA cBioPortalSNX12
AceView (NCBI)SNX12
Genatlas (Paris)SNX12
WikiGenes29934
SOURCE (Princeton)SNX12
Genetics Home Reference (NIH)SNX12
Genomic and cartography
GoldenPath hg19 (UCSC)SNX12  -     chrX:70279097-70293276 -  Xq13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SNX12  -     Xq13.1   [Description]    (hg38-Dec_2013)
EnsemblSNX12 - Xq13.1 [CytoView hg19]  SNX12 - Xq13.1 [CytoView hg38]
Mapping of homologs : NCBISNX12 [Mapview hg19]  SNX12 [Mapview hg38]
OMIM300883   
Gene and transcription
Genbank (Entrez)AF171229 AK025781 AK312977 BC020559 BC024301
RefSeq transcript (Entrez)NM_001256185 NM_001256186 NM_001256187 NM_001256188 NM_013346
RefSeq genomic (Entrez)NC_000023 NC_018934 NT_011651 NW_004929443
Consensus coding sequences : CCDS (NCBI)SNX12
Cluster EST : UnigeneHs.260750 [ NCBI ]
CGAP (NCI)Hs.260750
Alternative Splicing GalleryENSG00000147164
Gene ExpressionSNX12 [ NCBI-GEO ]   SNX12 [ EBI - ARRAY_EXPRESS ]   SNX12 [ SEEK ]   SNX12 [ MEM ]
Gene Expression Viewer (FireBrowse)SNX12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29934
GTEX Portal (Tissue expression)SNX12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UMY4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UMY4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UMY4
Splice isoforms : SwissVarQ9UMY4
PhosPhoSitePlusQ9UMY4
Domaine pattern : Prosite (Expaxy)PX (PS50195)   
Domains : Interpro (EBI)Phox   
Domain families : Pfam (Sanger)PX (PF00787)   
Domain families : Pfam (NCBI)pfam00787   
Domain families : Smart (EMBL)PX (SM00312)  
Conserved Domain (NCBI)SNX12
DMDM Disease mutations29934
Blocks (Seattle)SNX12
PDB (SRS)2CSK   
PDB (PDBSum)2CSK   
PDB (IMB)2CSK   
PDB (RSDB)2CSK   
Structural Biology KnowledgeBase2CSK   
SCOP (Structural Classification of Proteins)2CSK   
CATH (Classification of proteins structures)2CSK   
SuperfamilyQ9UMY4
Human Protein AtlasENSG00000147164
Peptide AtlasQ9UMY4
HPRD06719
IPIIPI00438170   IPI00844112   
Protein Interaction databases
DIP (DOE-UCLA)Q9UMY4
IntAct (EBI)Q9UMY4
FunCoupENSG00000147164
BioGRIDSNX12
STRING (EMBL)SNX12
ZODIACSNX12
Ontologies - Pathways
QuickGOQ9UMY4
Ontology : AmiGOprotein binding  early endosome  endocytosis  negative regulation of gene expression  negative regulation of protein processing  protein transport  vesicle organization  extrinsic component of membrane  enzyme binding  regulation of endocytosis  phosphatidylinositol binding  negative regulation of protein catabolic process  negative regulation of protein transport  extracellular exosome  negative regulation of early endosome to late endosome transport  
Ontology : EGO-EBIprotein binding  early endosome  endocytosis  negative regulation of gene expression  negative regulation of protein processing  protein transport  vesicle organization  extrinsic component of membrane  enzyme binding  regulation of endocytosis  phosphatidylinositol binding  negative regulation of protein catabolic process  negative regulation of protein transport  extracellular exosome  negative regulation of early endosome to late endosome transport  
NDEx NetworkSNX12
Atlas of Cancer Signalling NetworkSNX12
Wikipedia pathwaysSNX12
Orthology - Evolution
OrthoDB29934
GeneTree (enSembl)ENSG00000147164
Phylogenetic Trees/Animal Genes : TreeFamSNX12
HOVERGENQ9UMY4
HOGENOMQ9UMY4
Homologs : HomoloGeneSNX12
Homology/Alignments : Family Browser (UCSC)SNX12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSNX12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SNX12
dbVarSNX12
ClinVarSNX12
1000_GenomesSNX12 
Exome Variant ServerSNX12
ExAC (Exome Aggregation Consortium)SNX12 (select the gene name)
Genetic variants : HAPMAP29934
Genomic Variants (DGV)SNX12 [DGVbeta]
DECIPHER (Syndromes)X:70279097-70293276  ENSG00000147164
CONAN: Copy Number AnalysisSNX12 
Mutations
ICGC Data PortalSNX12 
TCGA Data PortalSNX12 
Broad Tumor PortalSNX12
OASIS PortalSNX12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSNX12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSNX12
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 SNX12
DgiDB (Drug Gene Interaction Database)SNX12
DoCM (Curated mutations)SNX12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SNX12 (select a term)
intoGenSNX12
Cancer3DSNX12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300883   
Orphanet
MedgenSNX12
Genetic Testing Registry SNX12
NextProtQ9UMY4 [Medical]
TSGene29934
GENETestsSNX12
Huge Navigator SNX12 [HugePedia]
snp3D : Map Gene to Disease29934
BioCentury BCIQSNX12
ClinGenSNX12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29934
Chemical/Pharm GKB GenePA37952
Clinical trialSNX12
Miscellaneous
canSAR (ICR)SNX12 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSNX12
EVEXSNX12
GoPubMedSNX12
iHOPSNX12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:46:04 CET 2017

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