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HIGD2A (HIG1 hypoxia inducible domain family, member 2A)

Identity

Alias_namesHIG1 domain family, member 2A
HIG1 hypoxia inducible domain family, member 2A
Alias_symbol (synonym)MGC2198
RCF1B
Other aliasRCF1b
HGNC (Hugo) HIGD2A
LocusID (NCBI) 192286
Atlas_Id 64269
Location 5q35.2  [Link to chromosome band 5q35]
Location_base_pair Starts at 175815784 and ends at 175816751 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ANKRD52 (12q13.3) / HIGD2A (5q35.2)HIGD2A (5q35.2) / DPYSL5 (2p23.3)

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)HIGD2A   28311
Cards
Entrez_Gene (NCBI)HIGD2A  192286  HIG1 hypoxia inducible domain family, member 2A
AliasesRCF1b
GeneCards (Weizmann)HIGD2A
Ensembl hg19 (Hinxton)ENSG00000146066 [Gene_View]  chr5:175815784-175816751 [Contig_View]  HIGD2A [Vega]
Ensembl hg38 (Hinxton)ENSG00000146066 [Gene_View]  chr5:175815784-175816751 [Contig_View]  HIGD2A [Vega]
ICGC DataPortalENSG00000146066
TCGA cBioPortalHIGD2A
AceView (NCBI)HIGD2A
Genatlas (Paris)HIGD2A
WikiGenes192286
SOURCE (Princeton)HIGD2A
Genetics Home Reference (NIH)HIGD2A
Genomic and cartography
GoldenPath hg19 (UCSC)HIGD2A  -     chr5:175815784-175816751 +  5q35.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HIGD2A  -     5q35.2   [Description]    (hg38-Dec_2013)
EnsemblHIGD2A - 5q35.2 [CytoView hg19]  HIGD2A - 5q35.2 [CytoView hg38]
Mapping of homologs : NCBIHIGD2A [Mapview hg19]  HIGD2A [Mapview hg38]
Gene and transcription
Genbank (Entrez)BC007502 DQ891893 DQ895080
RefSeq transcript (Entrez)NM_138820
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_023133 NW_004929325
Consensus coding sequences : CCDS (NCBI)HIGD2A
Cluster EST : UnigeneHs.534575 [ NCBI ]
CGAP (NCI)Hs.534575
Alternative Splicing GalleryENSG00000146066
Gene ExpressionHIGD2A [ NCBI-GEO ]   HIGD2A [ EBI - ARRAY_EXPRESS ]   HIGD2A [ SEEK ]   HIGD2A [ MEM ]
Gene Expression Viewer (FireBrowse)HIGD2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)192286
GTEX Portal (Tissue expression)HIGD2A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BW72   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BW72  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BW72
Splice isoforms : SwissVarQ9BW72
PhosPhoSitePlusQ9BW72
Domaine pattern : Prosite (Expaxy)HIG1 (PS51503)   
Domains : Interpro (EBI)Hypoxia_induced_domain   
Domain families : Pfam (Sanger)HIG_1_N (PF04588)   
Domain families : Pfam (NCBI)pfam04588   
Conserved Domain (NCBI)HIGD2A
DMDM Disease mutations192286
Blocks (Seattle)HIGD2A
SuperfamilyQ9BW72
Human Protein AtlasENSG00000146066
Peptide AtlasQ9BW72
HPRD14483
IPIIPI00020883   
Protein Interaction databases
DIP (DOE-UCLA)Q9BW72
IntAct (EBI)Q9BW72
FunCoupENSG00000146066
BioGRIDHIGD2A
STRING (EMBL)HIGD2A
ZODIACHIGD2A
Ontologies - Pathways
QuickGOQ9BW72
Ontology : AmiGOmitochondrial inner membrane  integral component of membrane  negative regulation of apoptotic process  oxidation-reduction process  respiratory chain  
Ontology : EGO-EBImitochondrial inner membrane  integral component of membrane  negative regulation of apoptotic process  oxidation-reduction process  respiratory chain  
NDEx NetworkHIGD2A
Atlas of Cancer Signalling NetworkHIGD2A
Wikipedia pathwaysHIGD2A
Orthology - Evolution
OrthoDB192286
GeneTree (enSembl)ENSG00000146066
Phylogenetic Trees/Animal Genes : TreeFamHIGD2A
HOVERGENQ9BW72
HOGENOMQ9BW72
Homologs : HomoloGeneHIGD2A
Homology/Alignments : Family Browser (UCSC)HIGD2A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHIGD2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HIGD2A
dbVarHIGD2A
ClinVarHIGD2A
1000_GenomesHIGD2A 
Exome Variant ServerHIGD2A
ExAC (Exome Aggregation Consortium)HIGD2A (select the gene name)
Genetic variants : HAPMAP192286
Genomic Variants (DGV)HIGD2A [DGVbeta]
DECIPHER (Syndromes)5:175815784-175816751  ENSG00000146066
CONAN: Copy Number AnalysisHIGD2A 
Mutations
ICGC Data PortalHIGD2A 
TCGA Data PortalHIGD2A 
Broad Tumor PortalHIGD2A
OASIS PortalHIGD2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHIGD2A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHIGD2A
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HIGD2A
DgiDB (Drug Gene Interaction Database)HIGD2A
DoCM (Curated mutations)HIGD2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HIGD2A (select a term)
intoGenHIGD2A
Cancer3DHIGD2A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenHIGD2A
Genetic Testing Registry HIGD2A
NextProtQ9BW72 [Medical]
TSGene192286
GENETestsHIGD2A
Huge Navigator HIGD2A [HugePedia]
snp3D : Map Gene to Disease192286
BioCentury BCIQHIGD2A
ClinGenHIGD2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD192286
Chemical/Pharm GKB GenePA142671685
Clinical trialHIGD2A
Miscellaneous
canSAR (ICR)HIGD2A (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHIGD2A
EVEXHIGD2A
GoPubMedHIGD2A
iHOPHIGD2A
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 12:07:44 CET 2017

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