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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 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 for HAPLN4 Gene

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

Additional gene information for HAPLN4 Gene

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

Genomics for HAPLN4 Gene

GeneHancer (GH) Regulatory Elements for HAPLN4 Gene

Promoters and enhancers for HAPLN4 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
GH19I019260 Enhancer 0.9 Ensembl ENCODE 550.8 +1.3 1314 2.2 HDAC1 MAX SIN3A ZNF48 ZNF791 POLR2A ZNF366 FOXK2 EGR1 ZNF143 HAPLN4 NR2C2AP ZNF90 ENSG00000268030 NDUFA13 ATP13A1 IQCN MAU2 UPF1 ENSG00000267481
GH19I019262 Promoter 0.7 EPDnew 550.8 0.0 -28 0.1 CTCF ZFP36 EZH2 HAPLN4 ENSG00000267629
GH19I019058 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.2 +200.3 200269 7.3 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B SLC25A42 UPF1 ELL ENSG00000268030 TMEM161A NR2C2AP ENSG00000268938 MAU2 ENSG00000269191 IQCN
GH19I019201 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.3 +59.8 59829 2.1 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF2 YY1 GTF3C2 E2F8 ATF7 NR2C2AP ENSG00000267481 MAU2 ATP13A1 UPF1 ENSG00000268938 ENSG00000269191 ZNF90 ZNF14 ENSG00000268030
GH19I018893 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 5.6 +368.0 367999 3.2 HDAC1 CLOCK ARID4B SIN3A BMI1 ZNF48 RAD21 ZNF335 GLIS2 EGR1 GDF1 CERS1 TMEM59L CRTC1 HAPLN4 HOMER3 NCAN SUGP2 KLHL26 SLC25A42
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HAPLN4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HAPLN4 gene promoter:

Genomic Locations for HAPLN4 Gene

Genomic Locations for HAPLN4 Gene
chr19:19,255,641-19,262,796
(GRCh38/hg38)
Size:
7,156 bases
Orientation:
Minus strand
chr19:19,366,450-19,373,605
(GRCh37/hg19)

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

Post-translational modifications for HAPLN4 Gene

Other Protein References for HAPLN4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HAPLN4 Gene

Domains & Families for HAPLN4 Gene

Gene Families for HAPLN4 Gene

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

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 :
  • Belongs to the HAPLN family.
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.

Phenotypes From GWAS Catalog for HAPLN4 Gene

Gene Ontology (GO) - Molecular Function for HAPLN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA --
GO:0005540 hyaluronic acid binding IBA --
genes like me logo Genes that share ontologies with HAPLN4: view
genes like me logo Genes that share phenotypes with HAPLN4: view

Animal Model Products

Clone Products

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
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 HAPLN4 gene
Compartment Confidence
extracellular 4
plasma membrane 2
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HAPLN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IBA --
genes like me logo Genes that share ontologies with HAPLN4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HAPLN4 Gene

Pathways & Interactions for HAPLN4 Gene

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

Pathways by source for HAPLN4 Gene

Interacting Proteins for HAPLN4 Gene

Gene Ontology (GO) - Biological Process for HAPLN4 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 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
Hyaluronic acid Approved, Vet_approved Pharma Target, binder 535
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for HAPLN4 Gene



Protein tissue co-expression partners for HAPLN4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HAPLN4 Gene:

HAPLN4

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.

Evidence on tissue expression from TISSUES for HAPLN4 Gene

  • Nervous system(2)
genes like me logo Genes that share expression patterns with HAPLN4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia HAPLN4 33 34
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia HAPLN4 33 34
  • 87.81 (n)
cow
(Bos Taurus)
Mammalia HAPLN4 33 34
  • 87.56 (n)
mouse
(Mus musculus)
Mammalia Hapln4 33 16 34
  • 83.96 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911378 33
  • 83.63 (n)
oppossum
(Monodelphis domestica)
Mammalia HAPLN4 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAPLN4 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAPLN4 33 34
  • 70.77 (n)
lizard
(Anolis carolinensis)
Reptilia HAPLN4 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hapln4 33
  • 59.21 (n)
zebrafish
(Danio rerio)
Actinopterygii hapln4 33 34
  • 63.81 (n)
worm
(Caenorhabditis elegans)
Secernentea clec-149 34
  • 10 (a)
OneToMany
Species where no ortholog for HAPLN4 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000139501 -- 19,257,744(-) G/T 3_prime_UTR_variant
rs1000387082 -- 19,260,253(-) G/T intron_variant
rs1000441276 -- 19,263,751(-) C/T upstream_transcript_variant
rs1000821392 -- 19,259,975(-) A/G intron_variant
rs1001048485 -- 19,262,197(-) T/C/G intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1151217 CNV deletion 26484159

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)

Additional Variant Information for HAPLN4 Gene

Human Gene Mutation Database (HGMD)
HAPLN4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAPLN4

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

Disorders for HAPLN4 Gene

Additional Disease Information for 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 AP … Bowling RA (The Journal of biological chemistry 2003) 2 3 4 22 58
  2. Molecular cloning of Bral2, a novel brain-specific link protein, and immunohistochemical colocalization with brevican in perineuronal nets. (PMID: 14550776) Bekku Y … Oohashi T (Molecular and cellular neurosciences 2003) 3 4 58
  3. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4 58
  4. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) Schizophrenia Working Group of the Psychiatric Genomics Consortium (Nature 2014) 3 58
  5. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PMID: 23974872) Ripke S … Sullivan PF (Nature genetics 2013) 3 58

Products for HAPLN4 Gene

Sources for HAPLN4 Gene

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