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HSH2D (hematopoietic SH2 domain containing)

Identity

Alias_symbol (synonym)ALX
HSH2
FLJ14886
Other alias
HGNC (Hugo) HSH2D
LocusID (NCBI) 84941
Atlas_Id 64450
Location 19p13.12  [Link to chromosome band 19p13]
Location_base_pair Starts at 16244838 and ends at 16269384 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COL3A1 (2q32.2) / HSH2D (19p13.12)HSH2D (19p13.12) / HSH2D (19p13.12)

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)HSH2D   24920
Cards
Entrez_Gene (NCBI)HSH2D  84941  hematopoietic SH2 domain containing
AliasesALX; HSH2
GeneCards (Weizmann)HSH2D
Ensembl hg19 (Hinxton)ENSG00000196684 [Gene_View]  chr19:16244838-16269384 [Contig_View]  HSH2D [Vega]
Ensembl hg38 (Hinxton)ENSG00000196684 [Gene_View]  chr19:16244838-16269384 [Contig_View]  HSH2D [Vega]
ICGC DataPortalENSG00000196684
TCGA cBioPortalHSH2D
AceView (NCBI)HSH2D
Genatlas (Paris)HSH2D
WikiGenes84941
SOURCE (Princeton)HSH2D
Genetics Home Reference (NIH)HSH2D
Genomic and cartography
GoldenPath hg19 (UCSC)HSH2D  -     chr19:16244838-16269384 +  19p13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HSH2D  -     19p13.12   [Description]    (hg38-Dec_2013)
EnsemblHSH2D - 19p13.12 [CytoView hg19]  HSH2D - 19p13.12 [CytoView hg38]
Mapping of homologs : NCBIHSH2D [Mapview hg19]  HSH2D [Mapview hg38]
OMIM608349   
Gene and transcription
Genbank (Entrez)AK027792 AK131222 AK298682 AK300027 AK307563
RefSeq transcript (Entrez)NM_001291274 NM_032855
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929414
Consensus coding sequences : CCDS (NCBI)HSH2D
Cluster EST : UnigeneHs.631617 [ NCBI ]
CGAP (NCI)Hs.631617
Alternative Splicing GalleryENSG00000196684
Gene ExpressionHSH2D [ NCBI-GEO ]   HSH2D [ EBI - ARRAY_EXPRESS ]   HSH2D [ SEEK ]   HSH2D [ MEM ]
Gene Expression Viewer (FireBrowse)HSH2D [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84941
GTEX Portal (Tissue expression)HSH2D
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96JZ2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96JZ2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96JZ2
Splice isoforms : SwissVarQ96JZ2
PhosPhoSitePlusQ96JZ2
Domaine pattern : Prosite (Expaxy)SH2 (PS50001)   
Domains : Interpro (EBI)SH2   
Domain families : Pfam (Sanger)SH2 (PF00017)   
Domain families : Pfam (NCBI)pfam00017   
Domain families : Smart (EMBL)SH2 (SM00252)  
Conserved Domain (NCBI)HSH2D
DMDM Disease mutations84941
Blocks (Seattle)HSH2D
PDB (SRS)2CS0   
PDB (PDBSum)2CS0   
PDB (IMB)2CS0   
PDB (RSDB)2CS0   
Structural Biology KnowledgeBase2CS0   
SCOP (Structural Classification of Proteins)2CS0   
CATH (Classification of proteins structures)2CS0   
SuperfamilyQ96JZ2
Human Protein AtlasENSG00000196684
Peptide AtlasQ96JZ2
HPRD12219
IPIIPI00657885   IPI00748347   IPI00910424   IPI00386291   
Protein Interaction databases
DIP (DOE-UCLA)Q96JZ2
IntAct (EBI)Q96JZ2
FunCoupENSG00000196684
BioGRIDHSH2D
STRING (EMBL)HSH2D
ZODIACHSH2D
Ontologies - Pathways
QuickGOQ96JZ2
Ontology : AmiGOnegative regulation of B cell apoptotic process  SH3/SH2 adaptor activity  protein binding  nucleus  mitochondrion  cytosol  positive regulation of signal transduction  T cell activation  negative regulation of mitochondrial depolarization  
Ontology : EGO-EBInegative regulation of B cell apoptotic process  SH3/SH2 adaptor activity  protein binding  nucleus  mitochondrion  cytosol  positive regulation of signal transduction  T cell activation  negative regulation of mitochondrial depolarization  
NDEx NetworkHSH2D
Atlas of Cancer Signalling NetworkHSH2D
Wikipedia pathwaysHSH2D
Orthology - Evolution
OrthoDB84941
GeneTree (enSembl)ENSG00000196684
Phylogenetic Trees/Animal Genes : TreeFamHSH2D
HOVERGENQ96JZ2
HOGENOMQ96JZ2
Homologs : HomoloGeneHSH2D
Homology/Alignments : Family Browser (UCSC)HSH2D
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSH2D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSH2D
dbVarHSH2D
ClinVarHSH2D
1000_GenomesHSH2D 
Exome Variant ServerHSH2D
ExAC (Exome Aggregation Consortium)HSH2D (select the gene name)
Genetic variants : HAPMAP84941
Genomic Variants (DGV)HSH2D [DGVbeta]
DECIPHER (Syndromes)19:16244838-16269384  ENSG00000196684
CONAN: Copy Number AnalysisHSH2D 
Mutations
ICGC Data PortalHSH2D 
TCGA Data PortalHSH2D 
Broad Tumor PortalHSH2D
OASIS PortalHSH2D [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSH2D  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSH2D
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 HSH2D
DgiDB (Drug Gene Interaction Database)HSH2D
DoCM (Curated mutations)HSH2D (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSH2D (select a term)
intoGenHSH2D
Cancer3DHSH2D(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608349   
Orphanet
MedgenHSH2D
Genetic Testing Registry HSH2D
NextProtQ96JZ2 [Medical]
TSGene84941
GENETestsHSH2D
Huge Navigator HSH2D [HugePedia]
snp3D : Map Gene to Disease84941
BioCentury BCIQHSH2D
ClinGenHSH2D
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84941
Chemical/Pharm GKB GenePA134927763
Clinical trialHSH2D
Miscellaneous
canSAR (ICR)HSH2D (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSH2D
EVEXHSH2D
GoPubMedHSH2D
iHOPHSH2D
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 12:08:18 CET 2017

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