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HAPLN2 (hyaluronan and proteoglycan link protein 2)

Identity

Alias_symbol (synonym)BRAL1
Other alias
HGNC (Hugo) HAPLN2
LocusID (NCBI) 60484
Atlas_Id 51240
Location 1q23.1  [Link to chromosome band 1q23]
Location_base_pair Starts at 156619294 and ends at 156625725 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HAPLN2 (1q23.1) / HAPLN2 (1q23.1)HAPLN2 (1q23.1) / MBP (18q23)PRCC (1q23.1) / HAPLN2 (1q23.1)
PRCC 1q23.1 / HAPLN2 1q23.1

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)HAPLN2   17410
Cards
Entrez_Gene (NCBI)HAPLN2  60484  hyaluronan and proteoglycan link protein 2
AliasesBRAL1
GeneCards (Weizmann)HAPLN2
Ensembl hg19 (Hinxton)ENSG00000132702 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132702 [Gene_View]  chr1:156619294-156625725 [Contig_View]  HAPLN2 [Vega]
ICGC DataPortalENSG00000132702
TCGA cBioPortalHAPLN2
AceView (NCBI)HAPLN2
Genatlas (Paris)HAPLN2
WikiGenes60484
SOURCE (Princeton)HAPLN2
Genetics Home Reference (NIH)HAPLN2
Genomic and cartography
GoldenPath hg38 (UCSC)HAPLN2  -     chr1:156619294-156625725 +  1q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HAPLN2  -     1q23.1   [Description]    (hg19-Feb_2009)
EnsemblHAPLN2 - 1q23.1 [CytoView hg19]  HAPLN2 - 1q23.1 [CytoView hg38]
Mapping of homologs : NCBIHAPLN2 [Mapview hg19]  HAPLN2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB049054 AK090712 AK293797 AK294131 AK308805
RefSeq transcript (Entrez)NM_021817
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HAPLN2
Cluster EST : UnigeneHs.410719 [ NCBI ]
CGAP (NCI)Hs.410719
Alternative Splicing GalleryENSG00000132702
Gene ExpressionHAPLN2 [ NCBI-GEO ]   HAPLN2 [ EBI - ARRAY_EXPRESS ]   HAPLN2 [ SEEK ]   HAPLN2 [ MEM ]
Gene Expression Viewer (FireBrowse)HAPLN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60484
GTEX Portal (Tissue expression)HAPLN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9GZV7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9GZV7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9GZV7
Splice isoforms : SwissVarQ9GZV7
PhosPhoSitePlusQ9GZV7
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    LINK_1 (PS01241)    LINK_2 (PS50963)   
Domains : Interpro (EBI)C-type_lectin-like/link    CTDL_fold    Ig-like_dom    Ig-like_fold    Ig_sub    Ig_V-set    Link_dom   
Domain families : Pfam (Sanger)V-set (PF07686)    Xlink (PF00193)   
Domain families : Pfam (NCBI)pfam07686    pfam00193   
Domain families : Smart (EMBL)IG (SM00409)  IGv (SM00406)  LINK (SM00445)  
Conserved Domain (NCBI)HAPLN2
DMDM Disease mutations60484
Blocks (Seattle)HAPLN2
SuperfamilyQ9GZV7
Human Protein AtlasENSG00000132702
Peptide AtlasQ9GZV7
HPRD17088
IPIIPI00029184   IPI00922048   IPI00644966   
Protein Interaction databases
DIP (DOE-UCLA)Q9GZV7
IntAct (EBI)Q9GZV7
FunCoupENSG00000132702
BioGRIDHAPLN2
STRING (EMBL)HAPLN2
ZODIACHAPLN2
Ontologies - Pathways
QuickGOQ9GZV7
Ontology : AmiGOskeletal system development  extracellular matrix structural constituent  hyaluronic acid binding  proteinaceous extracellular matrix  cell adhesion  central nervous system development  establishment of blood-nerve barrier  extracellular matrix assembly  
Ontology : EGO-EBIskeletal system development  extracellular matrix structural constituent  hyaluronic acid binding  proteinaceous extracellular matrix  cell adhesion  central nervous system development  establishment of blood-nerve barrier  extracellular matrix assembly  
NDEx NetworkHAPLN2
Atlas of Cancer Signalling NetworkHAPLN2
Wikipedia pathwaysHAPLN2
Orthology - Evolution
OrthoDB60484
GeneTree (enSembl)ENSG00000132702
Phylogenetic Trees/Animal Genes : TreeFamHAPLN2
HOVERGENQ9GZV7
HOGENOMQ9GZV7
Homologs : HomoloGeneHAPLN2
Homology/Alignments : Family Browser (UCSC)HAPLN2
Gene fusions - Rearrangements
Fusion : MitelmanPRCC/HAPLN2 [1q23.1/1q23.1]  [t(1;1)(q23;q23)]  
Fusion: TCGAPRCC 1q23.1 HAPLN2 1q23.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHAPLN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HAPLN2
dbVarHAPLN2
ClinVarHAPLN2
1000_GenomesHAPLN2 
Exome Variant ServerHAPLN2
ExAC (Exome Aggregation Consortium)HAPLN2 (select the gene name)
Genetic variants : HAPMAP60484
Genomic Variants (DGV)HAPLN2 [DGVbeta]
DECIPHERHAPLN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHAPLN2 
Mutations
ICGC Data PortalHAPLN2 
TCGA Data PortalHAPLN2 
Broad Tumor PortalHAPLN2
OASIS PortalHAPLN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHAPLN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHAPLN2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HAPLN2
DgiDB (Drug Gene Interaction Database)HAPLN2
DoCM (Curated mutations)HAPLN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HAPLN2 (select a term)
intoGenHAPLN2
Cancer3DHAPLN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenHAPLN2
Genetic Testing Registry HAPLN2
NextProtQ9GZV7 [Medical]
TSGene60484
GENETestsHAPLN2
Target ValidationHAPLN2
Huge Navigator HAPLN2 [HugePedia]
snp3D : Map Gene to Disease60484
BioCentury BCIQHAPLN2
ClinGenHAPLN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60484
Chemical/Pharm GKB GenePA134878581
Clinical trialHAPLN2
Miscellaneous
canSAR (ICR)HAPLN2 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHAPLN2
EVEXHAPLN2
GoPubMedHAPLN2
iHOPHAPLN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:55:01 CEST 2017

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