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Aliases for HAPLN4 Gene

Aliases for HAPLN4 Gene

  • Hyaluronan And Proteoglycan Link Protein 4 2 3 5
  • Brain Link Protein 2 2 3 4
  • BRAL2 3 4
  • KIAA1926 4

External Ids for HAPLN4 Gene

Previous GeneCards Identifiers for HAPLN4 Gene

  • GC19M019227
  • GC19M019229
  • GC19M019230
  • GC19M019366
  • GC19M018932

Summaries for HAPLN4 Gene

GeneCards Summary for HAPLN4 Gene

HAPLN4 (Hyaluronan And Proteoglycan Link Protein 4) is a Protein Coding gene. Among its related pathways are ERK Signaling and Integrin Pathway. GO annotations related to this gene include extracellular matrix structural constituent and hyaluronic acid binding. An important paralog of this gene is HAPLN2.

UniProtKB/Swiss-Prot for HAPLN4 Gene

  • Binds to hyaluronic acid and may be involved in formation of the extracellular matrix.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAPLN4 Gene

Genomics for HAPLN4 Gene

Regulatory Elements for HAPLN4 Gene

Promoters for HAPLN4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HAPLN4 on UCSC Golden Path with GeneCards custom track

Genomic Location for HAPLN4 Gene

Chromosome:
19
Start:
19,255,641 bp from pter
End:
19,262,796 bp from pter
Size:
7,156 bases
Orientation:
Minus strand

Genomic View for HAPLN4 Gene

Genes around HAPLN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAPLN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAPLN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAPLN4 Gene

Proteins for HAPLN4 Gene

  • Protein details for HAPLN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UW8-HPLN4_HUMAN
    Recommended name:
    Hyaluronan and proteoglycan link protein 4
    Protein Accession:
    Q86UW8
    Secondary Accessions:
    • A5PKW5
    • Q96PW2

    Protein attributes for HAPLN4 Gene

    Size:
    402 amino acids
    Molecular mass:
    42801 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB67819.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for HAPLN4 Gene

Proteomics data for HAPLN4 Gene at MOPED

Post-translational modifications for HAPLN4 Gene

  • Glycosylation at Asn 132
  • Modification sites at PhosphoSitePlus

Other Protein References for HAPLN4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for HAPLN4 Gene

Domains & Families for HAPLN4 Gene

Gene Families for HAPLN4 Gene

Suggested Antigen Peptide Sequences for HAPLN4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86UW8

UniProtKB/Swiss-Prot:

HPLN4_HUMAN :
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Belongs to the HAPLN family.
Domain:
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Contains 2 Link domains.
Family:
  • Belongs to the HAPLN family.
genes like me logo Genes that share domains with HAPLN4: view

Function for HAPLN4 Gene

Molecular function for HAPLN4 Gene

UniProtKB/Swiss-Prot Function:
Binds to hyaluronic acid and may be involved in formation of the extracellular matrix.

Gene Ontology (GO) - Molecular Function for HAPLN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA --
genes like me logo Genes that share ontologies with HAPLN4: view

Phenotypes for HAPLN4 Gene

genes like me logo Genes that share phenotypes with HAPLN4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HAPLN4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HAPLN4 Gene

Localization for HAPLN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAPLN4 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HAPLN4 Gene COMPARTMENTS Subcellular localization image for HAPLN4 gene
Compartment Confidence
extracellular 4
plasma membrane 2
cytosol 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for HAPLN4 Gene

Pathways & Interactions for HAPLN4 Gene

genes like me logo Genes that share pathways with HAPLN4: view

Interacting Proteins for HAPLN4 Gene

Gene Ontology (GO) - Biological Process for HAPLN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA,IBA --
genes like me logo Genes that share ontologies with HAPLN4: view

No data available for SIGNOR curated interactions for HAPLN4 Gene

Drugs & Compounds for HAPLN4 Gene

(1) Drugs for HAPLN4 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronan Approved Pharma Target, binder 362
genes like me logo Genes that share compounds with HAPLN4: view

Transcripts for HAPLN4 Gene

mRNA/cDNA for HAPLN4 Gene

Unigene Clusters for HAPLN4 Gene

Hyaluronan and proteoglycan link protein 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HAPLN4 Gene

No ASD Table

Relevant External Links for HAPLN4 Gene

GeneLoc Exon Structure for
HAPLN4
ECgene alternative splicing isoforms for
HAPLN4

Expression for HAPLN4 Gene

mRNA expression in normal human tissues for HAPLN4 Gene

mRNA differential expression in normal tissues according to GTEx for HAPLN4 Gene

This gene is overexpressed in Brain - Cortex (x12.1), Brain - Frontal Cortex (BA9) (x10.3), and Brain - Anterior cingulate cortex (BA24) (x5.5).

Protein differential expression in normal tissues from HIPED for HAPLN4 Gene

This gene is overexpressed in Frontal cortex (30.8), Adipocyte (23.7), Spinal cord (8.2), and Heart (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for HAPLN4 Gene



SOURCE GeneReport for Unigene cluster for HAPLN4 Gene Hs.367829

mRNA Expression by UniProt/SwissProt for HAPLN4 Gene

Q86UW8-HPLN4_HUMAN
Tissue specificity: Expressed predominantly in brain.
genes like me logo Genes that share expression patterns with HAPLN4: view

Protein tissue co-expression partners for HAPLN4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HAPLN4 Gene

Orthologs for HAPLN4 Gene

This gene was present in the common ancestor of animals.

Orthologs for HAPLN4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HAPLN4 35
  • 87.56 (n)
  • 96.27 (a)
HAPLN4 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAPLN4 35
  • 87.81 (n)
  • 95.52 (a)
HAPLN4 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hapln4 35
  • 83.96 (n)
  • 91.48 (a)
Hapln4 16
Hapln4 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HAPLN4 35
  • 99.17 (n)
  • 99.75 (a)
HAPLN4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hapln4 35
  • 83.63 (n)
  • 91.23 (a)
oppossum
(Monodelphis domestica)
Mammalia HAPLN4 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAPLN4 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAPLN4 35
  • 70.77 (n)
  • 71.92 (a)
HAPLN4 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAPLN4 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hapln4 35
  • 59.21 (n)
  • 66.47 (a)
zebrafish
(Danio rerio)
Actinopterygii hapln4 35
  • 63.81 (n)
  • 65.4 (a)
hapln4 36
  • 58 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea clec-149 36
  • 10 (a)
OneToMany
Species with no ortholog for HAPLN4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)

Evolution for HAPLN4 Gene

ENSEMBL:
Gene Tree for HAPLN4 (if available)
TreeFam:
Gene Tree for HAPLN4 (if available)

Paralogs for HAPLN4 Gene

Paralogs for HAPLN4 Gene

(7) SIMAP similar genes for HAPLN4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HAPLN4: view

Variants for HAPLN4 Gene

Sequence variations from dbSNP and Humsavar for HAPLN4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs988339 -- 19,255,598(+) TTATC(A/T)ACCAA downstream-variant-500B
rs2074295 -- 19,258,626(+) CCTGC(A/G)CTCCC reference, synonymous-codon
rs2074296 -- 19,262,880(+) GGTGT(A/G)TTAAA upstream-variant-2KB
rs2074297 -- 19,263,033(+) TTTAA(C/G)CATCT upstream-variant-2KB
rs2106864 -- 19,259,796(+) CCTAG(A/C)ATCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HAPLN4 Gene

Variant ID Type Subtype PubMed ID
nsv911303 CNV Loss 21882294
nsv911304 CNV Loss 21882294
nsv911305 CNV Loss 21882294
nsv911306 CNV Loss 21882294

Variation tolerance for HAPLN4 Gene

Residual Variation Intolerance Score: 30.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HAPLN4 Gene

HapMap Linkage Disequilibrium report
HAPLN4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAPLN4 Gene

Disorders for HAPLN4 Gene

Relevant External Links for HAPLN4

Human Genome Epidemiology (HuGE) Navigator
HAPLN4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAPLN4

No disorders were found for HAPLN4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HAPLN4 Gene

Publications for HAPLN4 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 A.P. … Bowling R.A. Jr. (J. Biol. Chem. 2003) 2 3 4 23 25 67
  2. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3
  3. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PMID: 23974872) Ripke S. … Sullivan P.F. (Nat. Genet. 2013) 3
  4. Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area. (PMID: 20950796) KAohler A.K. … Andreassen O.A. (Biol. Psychiatry 2011) 3
  5. Reduced expression of the hyaluronan and proteoglycan link proteins in malignant gliomas. (PMID: 19633295) Sim H. … Viapiano M.S. (J. Biol. Chem. 2009) 3

Products for HAPLN4 Gene

Sources for HAPLN4 Gene

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