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Aliases for HAPLN3 Gene

Aliases for HAPLN3 Gene

  • Hyaluronan And Proteoglycan Link Protein 3 2 3 5
  • Extracellular Link Domain Containing, 1 2 3
  • EXLD1 3 4
  • HsT19883 3

External Ids for HAPLN3 Gene

Previous HGNC Symbols for HAPLN3 Gene

  • EXLD1

Previous GeneCards Identifiers for HAPLN3 Gene

  • GC15M087007
  • GC15M087150
  • GC15M087221
  • GC15M089420
  • GC15M065532

Summaries for HAPLN3 Gene

Entrez Gene Summary for HAPLN3 Gene

  • This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]

GeneCards Summary for HAPLN3 Gene

HAPLN3 (Hyaluronan And Proteoglycan Link Protein 3) is a Protein Coding gene. Diseases associated with HAPLN3 include Mental Retardation, X-Linked, Syndromic 15. Among its related pathways are Phospholipase-C Pathway and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent and hyaluronic acid binding. An important paralog of this gene is HAPLN1.

UniProtKB/Swiss-Prot for HAPLN3 Gene

  • May function in hyaluronic acid binding.

Additional gene information for HAPLN3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAPLN3 Gene

Genomics for HAPLN3 Gene

Regulatory Elements for HAPLN3 Gene

Enhancers for HAPLN3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H089016 1.5 Ensembl ENCODE dbSUPER 11.9 -122.0 -122012 2 ATF1 ZFP64 SIN3A ZNF2 GATA2 ELK1 ZNF143 FOS KLF7 ATF7 HAPLN3 RLBP1 AEN ENSG00000173867 MFGE8 GC15P089023 LOC100129942
GH15H088984 1.5 Ensembl ENCODE dbSUPER 11.5 -94.8 -94780 10 PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 GLIS2 GATA2 FOS ATF7 MFGE8 HAPLN3 RLBP1 LOC100129942 GC15P089023
GH15H089001 1.5 Ensembl ENCODE dbSUPER 11.4 -107.6 -107600 3 HDGF PKNOX1 TCF12 ZNF766 ELK1 FOS RUNX3 CAVIN1 REST ZNF592 MFGE8 HAPLN3 RLBP1 AEN LOC100129942 GC15P089023
GH15H088655 1.4 Ensembl ENCODE dbSUPER 10.3 +239.1 239072 2 PKNOX1 ZFP64 BMI1 RAD21 ZNF143 ATF7 RUNX3 CREM IKZF2 ZNF654 ISG20 AEN MIR7-2 ENSG00000173867 MRPL46 MRPS11 HAPLN3 PIR50540
GH15H088903 1.4 Ensembl ENCODE dbSUPER 9.9 -9.5 -9477 2 HDGF PKNOX1 RB1 ARID4B KLF17 ZNF2 RAD21 ZNF766 GLIS2 GATA2 AEN HAPLN3 MFGE8 GC15P088896
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HAPLN3 on UCSC Golden Path with GeneCards custom track

Promoters for HAPLN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080828 426 801 SIN3A GLIS2 SCRT2 SP3 ZNF280D ZFP69B ZNF524 ZBTB26 CTCF ZSCAN5A

Genomic Location for HAPLN3 Gene

Chromosome:
15
Start:
88,877,288 bp from pter
End:
88,895,626 bp from pter
Size:
18,339 bases
Orientation:
Minus strand

Genomic View for HAPLN3 Gene

Genes around HAPLN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAPLN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAPLN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAPLN3 Gene

Proteins for HAPLN3 Gene

  • Protein details for HAPLN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96S86-HPLN3_HUMAN
    Recommended name:
    Hyaluronan and proteoglycan link protein 3
    Protein Accession:
    Q96S86
    Secondary Accessions:
    • A8K7P0

    Protein attributes for HAPLN3 Gene

    Size:
    360 amino acids
    Molecular mass:
    40894 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HAPLN3 Gene

Post-translational modifications for HAPLN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HAPLN3 Gene

Domains & Families for HAPLN3 Gene

Gene Families for HAPLN3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for HAPLN3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96S86

UniProtKB/Swiss-Prot:

HPLN3_HUMAN :
  • Belongs to the HAPLN family.
Family:
  • Belongs to the HAPLN family.
genes like me logo Genes that share domains with HAPLN3: view

Function for HAPLN3 Gene

Molecular function for HAPLN3 Gene

UniProtKB/Swiss-Prot Function:
May function in hyaluronic acid binding.

Phenotypes From GWAS Catalog for HAPLN3 Gene

Gene Ontology (GO) - Molecular Function for HAPLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA --
GO:0005540 hyaluronic acid binding IEA,IBA --
genes like me logo Genes that share ontologies with HAPLN3: view

Phenotypes for HAPLN3 Gene

GenomeRNAi human phenotypes for HAPLN3:
genes like me logo Genes that share phenotypes with HAPLN3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HAPLN3

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HAPLN3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HAPLN3 Gene

Localization for HAPLN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAPLN3 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HAPLN3 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HAPLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IBA --
GO:0005615 extracellular space IDA 16502470
genes like me logo Genes that share ontologies with HAPLN3: view

Pathways & Interactions for HAPLN3 Gene

genes like me logo Genes that share pathways with HAPLN3: view

Pathways by source for HAPLN3 Gene

Interacting Proteins for HAPLN3 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000352606%0d%0a9606.ENSP00000344219%0d%0a
Selected Interacting proteins: ENSP00000352606 Q96S86-HPLN3_HUMAN for HAPLN3 Gene via STRING IID

Gene Ontology (GO) - Biological Process for HAPLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IBA --
GO:0007155 cell adhesion IEA --
GO:0007417 central nervous system development IBA --
genes like me logo Genes that share ontologies with HAPLN3: view

No data available for SIGNOR curated interactions for HAPLN3 Gene

Drugs & Compounds for HAPLN3 Gene

(1) Drugs for HAPLN3 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronic acid Approved, Vet_approved Pharma Target, binder 503
genes like me logo Genes that share compounds with HAPLN3: view

Transcripts for HAPLN3 Gene

Unigene Clusters for HAPLN3 Gene

Hyaluronan and proteoglycan link protein 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HAPLN3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for HAPLN3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7
SP1: - -
SP2: - - - -
SP3: -
SP4:
SP5: - -

Relevant External Links for HAPLN3 Gene

GeneLoc Exon Structure for
HAPLN3
ECgene alternative splicing isoforms for
HAPLN3

Expression for HAPLN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HAPLN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAPLN3 Gene

This gene is overexpressed in Artery - Aorta (x7.1) and Artery - Coronary (x4.3).

Protein differential expression in normal tissues from HIPED for HAPLN3 Gene

This gene is overexpressed in Milk (26.9), Bone marrow mesenchymal stem cell (23.8), and Synovial fluid (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HAPLN3 Gene



NURSA nuclear receptor signaling pathways regulating expression of HAPLN3 Gene:

HAPLN3

SOURCE GeneReport for Unigene cluster for HAPLN3 Gene:

Hs.447530

mRNA Expression by UniProt/SwissProt for HAPLN3 Gene:

Q96S86-HPLN3_HUMAN
Tissue specificity: Widely expressed with highest levels in spleen and placenta.

Evidence on tissue expression from TISSUES for HAPLN3 Gene

  • Spleen(4.2)
genes like me logo Genes that share expression patterns with HAPLN3: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HAPLN3 Gene

Orthologs for HAPLN3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HAPLN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAPLN3 33 34
  • 98.7 (n)
cow
(Bos Taurus)
Mammalia HAPLN3 33 34
  • 86.45 (n)
dog
(Canis familiaris)
Mammalia HAPLN3 33 34
  • 85.75 (n)
rat
(Rattus norvegicus)
Mammalia Hapln3 33
  • 82.31 (n)
mouse
(Mus musculus)
Mammalia Hapln3 33 16 34
  • 81.92 (n)
oppossum
(Monodelphis domestica)
Mammalia HAPLN3 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAPLN3 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAPLN3 33 34
  • 69.53 (n)
lizard
(Anolis carolinensis)
Reptilia HAPLN3 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia usp12 33
  • 67.25 (n)
Str.16035 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53495 33
zebrafish
(Danio rerio)
Actinopterygii hapln3 33 34
  • 60.1 (n)
Species where no ortholog for HAPLN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HAPLN3 Gene

ENSEMBL:
Gene Tree for HAPLN3 (if available)
TreeFam:
Gene Tree for HAPLN3 (if available)

Paralogs for HAPLN3 Gene

Paralogs for HAPLN3 Gene

(8) SIMAP similar genes for HAPLN3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with HAPLN3: view

Variants for HAPLN3 Gene

Sequence variations from dbSNP and Humsavar for HAPLN3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000190969 -- 88,876,859(+) AGTGG(C/T)AGAGG downstream-variant-500B
rs1000360857 -- 88,896,777(+) TGTGA(C/T)CAACA upstream-variant-2KB
rs1000364869 -- 88,896,507(+) GGCAG(A/C)CGCTC upstream-variant-2KB
rs1000429760 -- 88,887,974(+) AAAGA(A/C)AAAAG intron-variant
rs1000577701 -- 88,877,626(+) GCCCA(C/T)CATGC nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HAPLN3 Gene

Variant ID Type Subtype PubMed ID
esv3637178 CNV loss 21293372
nsv1653 CNV deletion 18451855

Variation tolerance for HAPLN3 Gene

Residual Variation Intolerance Score: 88.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.36; 95.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HAPLN3 Gene

Human Gene Mutation Database (HGMD)
HAPLN3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAPLN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAPLN3 Gene

Disorders for HAPLN3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HAPLN3 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
mental retardation, x-linked, syndromic 15
  • syndromic x-linked intellectual disability cabezas type
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HAPLN3

Human Genome Epidemiology (HuGE) Navigator
HAPLN3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAPLN3
genes like me logo Genes that share disorders with HAPLN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HAPLN3 Gene

Publications for HAPLN3 Gene

  1. A hyaluronan binding link protein gene family whose members are physically linked adjacent to chondroitin sulfate proteoglycan core protein genes: the missing links. (PMID: 12663660) Spicer AP … Bowling RA (The Journal of biological chemistry 2003) 2 3 4 22 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for HAPLN3 Gene

Sources for HAPLN3 Gene

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