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] See more...

Aliases for HAPLN3 Gene

Aliases for HAPLN3 Gene

  • Hyaluronan And Proteoglycan Link Protein 3 2 3 4 5
  • Extracellular Link Domain Containing, 1 2 3
  • HsT19883 2 3
  • EXLD1 3 4
  • HAPLN3 5

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 Inflammatory Bowel Disease 13 and Syndromic X-Linked Intellectual Disability Cabezas Type. Among its related pathways are Integrin Pathway and ERK Signaling. 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 Summary for HAPLN3 Gene

Additional gene information for HAPLN3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HAPLN3 Gene

Genomics for HAPLN3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HAPLN3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J088897 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 610.2 -0.7 -675 4.2 HNRNPL CTCF ZBTB33 PRDM10 ZNF629 IKZF1 ZNF692 FOXA1 ZNF143 ZIC2 HAPLN3 lnc-ACAN-2 POLG ENSG00000259677 MFGE8 RF00017-1887
GH15J088901 Promoter/Enhancer 0.6 EPDnew dbSUPER 600.4 -6.1 -6067 0.1 POLR2A HAPLN3 lnc-HAPLN3-2 lnc-ACAN-2 MFGE8 lnc-MFGE8-1-001 RF00017-1887
GH15J089016 Promoter/Enhancer 1.5 ENCODE CraniofacialAtlas dbSUPER 11.9 -122.0 -122032 2.6 CTCF ZBTB33 TEAD4 PRDM10 ZNF629 KDM1A ZNF692 JUND ETV6 ZNF143 lnc-ABHD2-6 HAPLN3 RLBP1 AEN ENSG00000173867 MFGE8 lnc-MFGE8-2 ABHD2
GH15J088984 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 -94.8 -94799 10.8 CTCF LEF1 IKZF1 KDM1A MTA2 ZIC2 PKNOX1 MTA1 NR2C1 ZNF24 ENSG00000261549 LOC100129942 MFGE8 HAPLN3 RLBP1 FANCI lnc-ABHD2-8 ABHD2 RF00017-1887
GH15J089001 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.5 -107.4 -107395 4 CTCF ZBTB33 ZNF512 LEF1 JUND ETV6 PKNOX1 REST RAD21 TCF12 MFGE8 HAPLN3 RLBP1 AEN lnc-ABHD2-8 lnc-ABHD2-6 ABHD2 RF00017-1887
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAPLN3

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

Genomic Locations for HAPLN3 Gene

Genomic Locations for HAPLN3 Gene
chr15:88,877,294-88,895,606
(GRCh38/hg38)
Size:
18,313 bases
Orientation:
Minus strand
chr15:89,420,519-89,438,857
(GRCh37/hg19)
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

Protein Domains for HAPLN3 Gene

InterPro:
Blocks:
  • Immunoglobulin V-set
  • Immunoglobulin subtype
  • Link domain
ProtoNet:

Suggested Antigen Peptide Sequences for HAPLN3 Gene

GenScript: Design optimal peptide antigens:
  • Hyaluronan and proteoglycan link protein 3 (HPLN3_HUMAN)

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:0005540 hyaluronic acid binding IEA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAPLN3

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
cytoskeleton 1
nucleus 1
endoplasmic reticulum 0

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
GO:0031012 extracellular matrix IBA 21873635
genes like me logo Genes that share ontologies with HAPLN3: view

Pathways & Interactions for HAPLN3 Gene

PathCards logo

SuperPathways for HAPLN3 Gene

SuperPathway Contained pathways
1 Integrin Pathway
.67
.67
.56
.56
.50
.38
2 ERK Signaling
.61
.61
.58
.51
.49
3 Phospholipase-C Pathway
.56
.56
genes like me logo Genes that share pathways with HAPLN3: view

Pathways by source for HAPLN3 Gene

13 Qiagen pathways for HAPLN3 Gene
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
  • Inhibition of Angiogenesis by TSP1

Gene Ontology (GO) - Biological Process for HAPLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IBA 21873635
GO:0007155 cell adhesion IEA --
GO:0007417 central nervous system development IBA 21873635
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 717
genes like me logo Genes that share compounds with HAPLN3: view

Transcripts for HAPLN3 Gene

mRNA/cDNA for HAPLN3 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAPLN3

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

Expression for HAPLN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 30 31
  • 98.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HAPLN3 30 31
  • 86.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HAPLN3 30 31
  • 85.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hapln3 30
  • 82.31 (n)
Mouse
(Mus musculus)
Mammalia Hapln3 30 17 31
  • 81.92 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HAPLN3 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HAPLN3 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HAPLN3 30 31
  • 69.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HAPLN3 31
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia usp12 30
  • 67.25 (n)
Str.16035 30
African clawed frog
(Xenopus laevis)
Amphibia MGC53495 30
Zebrafish
(Danio rerio)
Actinopterygii hapln3 30 31
  • 60.1 (n)
OneToOne
Species where no ortholog for HAPLN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
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:

  • HPLN3_HUMAN
  • H3BRY4_HUMAN
  • H3BT26_HUMAN
  • H3BTH8_HUMAN
genes like me logo Genes that share paralogs with HAPLN3: view

Variants for HAPLN3 Gene

Additional dbSNP identifiers (rs#s) for HAPLN3 Gene

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)
HAPLN3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAPLN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAPLN3 Gene

Disorders for HAPLN3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HAPLN3 Gene - From: 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 23
  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
  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
  4. A three-gene DNA methylation biomarker accurately classifies early stage prostate cancer. (PMID: 31433512) Patel PG … Berman DM (The Prostate 2019) 3
  5. A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway. (PMID: 30561431) Van Quickelberghe E … Gevaert K (Scientific data 2018) 3

Products for HAPLN3 Gene

Sources for HAPLN3 Gene