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HAPLN3 (hyaluronan and proteoglycan link protein 3)

Identity

Alias_namesEXLD1
extracellular link domain containing
Alias_symbol (synonym)HsT19883
Other alias
HGNC (Hugo) HAPLN3
LocusID (NCBI) 145864
Atlas_Id 51792
Location 15q26.1  [Link to chromosome band 15q26]
Location_base_pair Starts at 88877285 and ends at 88895626 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MFGE8 (15q26.1) / HAPLN3 (15q26.1)SYN3 (22q12.3) / HAPLN3 (15q26.1)

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)HAPLN3   21446
Cards
Entrez_Gene (NCBI)HAPLN3  145864  hyaluronan and proteoglycan link protein 3
AliasesEXLD1; HsT19883
GeneCards (Weizmann)HAPLN3
Ensembl hg19 (Hinxton)ENSG00000140511 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000140511 [Gene_View]  chr15:88877285-88895626 [Contig_View]  HAPLN3 [Vega]
ICGC DataPortalENSG00000140511
TCGA cBioPortalHAPLN3
AceView (NCBI)HAPLN3
Genatlas (Paris)HAPLN3
WikiGenes145864
SOURCE (Princeton)HAPLN3
Genetics Home Reference (NIH)HAPLN3
Genomic and cartography
GoldenPath hg38 (UCSC)HAPLN3  -     chr15:88877285-88895626 -  15q26.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HAPLN3  -     15q26.1   [Description]    (hg19-Feb_2009)
EnsemblHAPLN3 - 15q26.1 [CytoView hg19]  HAPLN3 - 15q26.1 [CytoView hg38]
Mapping of homologs : NCBIHAPLN3 [Mapview hg19]  HAPLN3 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK292055 AK292103 AY037161 AY262759 AY358500
RefSeq transcript (Entrez)NM_001307952 NM_178232
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HAPLN3
Cluster EST : UnigeneHs.447530 [ NCBI ]
CGAP (NCI)Hs.447530
Alternative Splicing GalleryENSG00000140511
Gene ExpressionHAPLN3 [ NCBI-GEO ]   HAPLN3 [ EBI - ARRAY_EXPRESS ]   HAPLN3 [ SEEK ]   HAPLN3 [ MEM ]
Gene Expression Viewer (FireBrowse)HAPLN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)145864
GTEX Portal (Tissue expression)HAPLN3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96S86   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96S86  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96S86
Splice isoforms : SwissVarQ96S86
PhosPhoSitePlusQ96S86
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)HAPLN3
DMDM Disease mutations145864
Blocks (Seattle)HAPLN3
SuperfamilyQ96S86
Human Protein AtlasENSG00000140511
Peptide AtlasQ96S86
HPRD13629
IPIIPI00045527   
Protein Interaction databases
DIP (DOE-UCLA)Q96S86
IntAct (EBI)Q96S86
FunCoupENSG00000140511
BioGRIDHAPLN3
STRING (EMBL)HAPLN3
ZODIACHAPLN3
Ontologies - Pathways
QuickGOQ96S86
Ontology : AmiGOskeletal system development  extracellular matrix structural constituent  hyaluronic acid binding  proteinaceous extracellular matrix  extracellular space  cell adhesion  central nervous system development  
Ontology : EGO-EBIskeletal system development  extracellular matrix structural constituent  hyaluronic acid binding  proteinaceous extracellular matrix  extracellular space  cell adhesion  central nervous system development  
NDEx NetworkHAPLN3
Atlas of Cancer Signalling NetworkHAPLN3
Wikipedia pathwaysHAPLN3
Orthology - Evolution
OrthoDB145864
GeneTree (enSembl)ENSG00000140511
Phylogenetic Trees/Animal Genes : TreeFamHAPLN3
HOVERGENQ96S86
HOGENOMQ96S86
Homologs : HomoloGeneHAPLN3
Homology/Alignments : Family Browser (UCSC)HAPLN3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHAPLN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HAPLN3
dbVarHAPLN3
ClinVarHAPLN3
1000_GenomesHAPLN3 
Exome Variant ServerHAPLN3
ExAC (Exome Aggregation Consortium)HAPLN3 (select the gene name)
Genetic variants : HAPMAP145864
Genomic Variants (DGV)HAPLN3 [DGVbeta]
DECIPHERHAPLN3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHAPLN3 
Mutations
ICGC Data PortalHAPLN3 
TCGA Data PortalHAPLN3 
Broad Tumor PortalHAPLN3
OASIS PortalHAPLN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHAPLN3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHAPLN3
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 HAPLN3
DgiDB (Drug Gene Interaction Database)HAPLN3
DoCM (Curated mutations)HAPLN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HAPLN3 (select a term)
intoGenHAPLN3
Cancer3DHAPLN3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenHAPLN3
Genetic Testing Registry HAPLN3
NextProtQ96S86 [Medical]
TSGene145864
GENETestsHAPLN3
Huge Navigator HAPLN3 [HugePedia]
snp3D : Map Gene to Disease145864
BioCentury BCIQHAPLN3
ClinGenHAPLN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD145864
Chemical/Pharm GKB GenePA134919215
Clinical trialHAPLN3
Miscellaneous
canSAR (ICR)HAPLN3 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHAPLN3
EVEXHAPLN3
GoPubMedHAPLN3
iHOPHAPLN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:18:22 CEST 2017

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