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HHLA2 (HERV-H LTR-associating 2)

Identity

Alias_symbol (synonym)B7H7
B7-H5
B7y
Other aliasB7-H7
HGNC (Hugo) HHLA2
LocusID (NCBI) 11148
Atlas_Id 55630
Location 3q13.13  [Link to chromosome band 3q13]
Location_base_pair Starts at 108015337 and ends at 108097131 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TAF4 (20q13.33) / HHLA2 (3q13.13)

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)HHLA2   4905
Cards
Entrez_Gene (NCBI)HHLA2  11148  HERV-H LTR-associating 2
AliasesB7-H5; B7-H7; B7H7; B7y
GeneCards (Weizmann)HHLA2
Ensembl hg19 (Hinxton)ENSG00000114455 [Gene_View]  chr3:108015337-108097131 [Contig_View]  HHLA2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000114455 [Gene_View]  chr3:108015337-108097131 [Contig_View]  HHLA2 [Vega]
ICGC DataPortalENSG00000114455
TCGA cBioPortalHHLA2
AceView (NCBI)HHLA2
Genatlas (Paris)HHLA2
WikiGenes11148
SOURCE (Princeton)HHLA2
Genetics Home Reference (NIH)HHLA2
Genomic and cartography
GoldenPath hg19 (UCSC)HHLA2  -     chr3:108015337-108097131 +  3q13.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HHLA2  -     3q13.13   [Description]    (hg38-Dec_2013)
EnsemblHHLA2 - 3q13.13 [CytoView hg19]  HHLA2 - 3q13.13 [CytoView hg38]
Mapping of homologs : NCBIHHLA2 [Mapview hg19]  HHLA2 [Mapview hg38]
OMIM604371   
Gene and transcription
Genbank (Entrez)AF126162 AK000692 AK027132 AK097806 AK296644
RefSeq transcript (Entrez)NM_001282556 NM_001282557 NM_001282558 NM_001282559 NM_007072
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)HHLA2
Cluster EST : UnigeneHs.252351 [ NCBI ]
CGAP (NCI)Hs.252351
Alternative Splicing GalleryENSG00000114455
Gene ExpressionHHLA2 [ NCBI-GEO ]   HHLA2 [ EBI - ARRAY_EXPRESS ]   HHLA2 [ SEEK ]   HHLA2 [ MEM ]
Gene Expression Viewer (FireBrowse)HHLA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11148
GTEX Portal (Tissue expression)HHLA2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UM44   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UM44  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UM44
Splice isoforms : SwissVarQ9UM44
PhosPhoSitePlusQ9UM44
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_C1-set    Ig_sub    Ig_V-set   
Domain families : Pfam (Sanger)C1-set (PF07654)    V-set (PF07686)   
Domain families : Pfam (NCBI)pfam07654    pfam07686   
Domain families : Smart (EMBL)IG (SM00409)  
Conserved Domain (NCBI)HHLA2
DMDM Disease mutations11148
Blocks (Seattle)HHLA2
SuperfamilyQ9UM44
Human Protein AtlasENSG00000114455
Peptide AtlasQ9UM44
HPRD05082
IPIIPI00945789   IPI00790463   IPI00909536   IPI00791042   IPI00944909   IPI00947388   IPI00982462   IPI00945651   
Protein Interaction databases
DIP (DOE-UCLA)Q9UM44
IntAct (EBI)Q9UM44
FunCoupENSG00000114455
BioGRIDHHLA2
STRING (EMBL)HHLA2
ZODIACHHLA2
Ontologies - Pathways
QuickGOQ9UM44
Ontology : AmiGOpositive regulation of cytokine production  molecular_function  protein binding  cellular_component  integral component of membrane  T cell costimulation  positive regulation of activated T cell proliferation  
Ontology : EGO-EBIpositive regulation of cytokine production  molecular_function  protein binding  cellular_component  integral component of membrane  T cell costimulation  positive regulation of activated T cell proliferation  
NDEx NetworkHHLA2
Atlas of Cancer Signalling NetworkHHLA2
Wikipedia pathwaysHHLA2
Orthology - Evolution
OrthoDB11148
GeneTree (enSembl)ENSG00000114455
Phylogenetic Trees/Animal Genes : TreeFamHHLA2
HOVERGENQ9UM44
HOGENOMQ9UM44
Homologs : HomoloGeneHHLA2
Homology/Alignments : Family Browser (UCSC)HHLA2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHHLA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HHLA2
dbVarHHLA2
ClinVarHHLA2
1000_GenomesHHLA2 
Exome Variant ServerHHLA2
ExAC (Exome Aggregation Consortium)HHLA2 (select the gene name)
Genetic variants : HAPMAP11148
Genomic Variants (DGV)HHLA2 [DGVbeta]
DECIPHER (Syndromes)3:108015337-108097131  ENSG00000114455
CONAN: Copy Number AnalysisHHLA2 
Mutations
ICGC Data PortalHHLA2 
TCGA Data PortalHHLA2 
Broad Tumor PortalHHLA2
OASIS PortalHHLA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHHLA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHHLA2
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 HHLA2
DgiDB (Drug Gene Interaction Database)HHLA2
DoCM (Curated mutations)HHLA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HHLA2 (select a term)
intoGenHHLA2
Cancer3DHHLA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604371   
Orphanet
MedgenHHLA2
Genetic Testing Registry HHLA2
NextProtQ9UM44 [Medical]
TSGene11148
GENETestsHHLA2
Huge Navigator HHLA2 [HugePedia]
snp3D : Map Gene to Disease11148
BioCentury BCIQHHLA2
ClinGenHHLA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11148
Chemical/Pharm GKB GenePA29278
Clinical trialHHLA2
Miscellaneous
canSAR (ICR)HHLA2 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHHLA2
EVEXHHLA2
GoPubMedHHLA2
iHOPHHLA2
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 13:08:59 CET 2017

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