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Aliases for HAPLN3 Gene

Aliases for HAPLN3 Gene

  • Hyaluronan And Proteoglycan Link Protein 3 2 3 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 Syndromic X-Linked Intellectual Disability Cabezas Type. Among its related pathways are ERK Signaling and Integrin Pathway. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for HAPLN3 Gene

Promoters and enhancers for HAPLN3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J088894 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 660.3 +0.1 136 1.4 SIN3A ZNF335 GLIS2 ZNF213 SCRT2 ZFP91 ZNF280D SP3 REST ZFP69B HAPLN3 GC15P088896 GC15P088897 MFGE8 GC15P088887
GH15J088896 Enhancer 1.2 Ensembl ENCODE dbSUPER 659.8 -1.7 -1687 2.1 HDAC1 RAD21 GLIS2 SCRT2 ATF7 CREM SP3 ZNF398 SP1 ZFP69B HAPLN3 GC15P088896 GC15P088897 POLG LOC100631255 MFGE8
GH15J088897 Enhancer 1 ENCODE dbSUPER 650.7 +1.2 1171 0.2 FOXA2 RB1 SIN3A ZNF2 RAD21 ZNF335 GLIS2 SCRT2 ZNF143 ZNF654 GC15P088897 HAPLN3 GC15P088887
GH15J088895 Enhancer 0.9 ENCODE dbSUPER 650.7 +0.9 871 0.1 CTCF FOXA2 SIN3A ZIC2 ZNF2 ZNF335 CTBP1 GLIS2 POLR2A SCRT2 GC15P088896 HAPLN3 GC15P088897 GC15P088887
GH15J088901 Promoter/Enhancer 0.8 EPDnew dbSUPER 650.4 -6.0 -6047 0.1 POLR2A HAPLN3 GC15P088896 GC15P088897 MFGE8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HAPLN3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HAPLN3 gene promoter:
  • SRF (504 AA)
  • SRF
  • AML1a
  • Nkx6-1
  • MIF-1
  • SEF-1 (1)
  • E47
  • Hand1
  • Pax-2
  • Pax-2a

Genomic Locations for HAPLN3 Gene

Genomic Locations for HAPLN3 Gene
18,339 bases
Minus strand
18,339 bases
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:
    Recommended name:
    Hyaluronan and proteoglycan link protein 3
    Protein Accession:
    Secondary Accessions:
    • A8K7P0

    Protein attributes for HAPLN3 Gene

    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

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



  • Belongs to the HAPLN 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
genes like me logo Genes that share phenotypes with HAPLN3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HAPLN3

Clone Products

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

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:0005615 extracellular space HDA 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)
Selected Interacting proteins: Q96S86-HPLN3_HUMAN ENSP00000352606 for HAPLN3 Gene via IID STRING

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 535
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:

Clone Products

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: -
SP5: - -

Relevant External Links for HAPLN3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for HAPLN3 Gene:


mRNA Expression by UniProt/SwissProt for HAPLN3 Gene:

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

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
(Pan troglodytes)
Mammalia HAPLN3 34 33
  • 98.7 (n)
(Bos Taurus)
Mammalia HAPLN3 34 33
  • 86.45 (n)
(Canis familiaris)
Mammalia HAPLN3 34 33
  • 85.75 (n)
(Rattus norvegicus)
Mammalia Hapln3 33
  • 82.31 (n)
(Mus musculus)
Mammalia Hapln3 16 34 33
  • 81.92 (n)
(Monodelphis domestica)
Mammalia HAPLN3 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia HAPLN3 34
  • 65 (a)
(Gallus gallus)
Aves HAPLN3 34 33
  • 69.53 (n)
(Anolis carolinensis)
Reptilia HAPLN3 34
  • 53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia usp12 33
  • 67.25 (n)
Str.16035 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53495 33
(Danio rerio)
Actinopterygii hapln3 34 33
  • 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

Gene Tree for HAPLN3 (if available)
Gene Tree for HAPLN3 (if available)
Evolutionary constrained regions (ECRs) for HAPLN3: view image

Paralogs for HAPLN3 Gene

Paralogs for HAPLN3 Gene

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

  • H3BT26_HUMAN
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 Variation AA Info Type
rs1000190969 -- 88,876,859(-) C/A/T downstream_transcript_variant
rs1000360857 -- 88,896,777(-) T/C upstream_transcript_variant
rs1000364869 -- 88,896,507(-) C/A upstream_transcript_variant
rs1000429760 -- 88,887,974(-) A/C intron_variant
rs1000577701 -- 88,877,626(-) C/A/T 3_prime_UTR_variant, non_coding_transcript_variant

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)

Additional Variant Information for HAPLN3 Gene

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

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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 58
  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 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for HAPLN3 Gene

Sources for HAPLN3 Gene

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