Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
404037
Gene name Gene Name - the full gene name approved by the HGNC.
Hyaluronan and proteoglycan link protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HAPLN4
Synonyms (NCBI Gene) Gene synonyms aliases
BRAL2
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1040744 hsa-miR-1 CLIP-seq
MIRT1040745 hsa-miR-1205 CLIP-seq
MIRT1040746 hsa-miR-1231 CLIP-seq
MIRT1040747 hsa-miR-1266 CLIP-seq
MIRT1040748 hsa-miR-1275 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IBA
GO:0005540 Function Hyaluronic acid binding IEA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0007155 Process Cell adhesion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619710 31357 ENSG00000187664
Protein
UniProt ID Q86UW8
Protein name Hyaluronan and proteoglycan link protein 4 (Brain link protein 2)
Protein function Essential for the proper localization of brevican (BCAN), mainly as a perineuronal nets (PNNs)-type deposition in the brainstem and cerebellum thereby playing a key role in the formation and structural organization of PNNs (By similarity). Contr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 51 159 Immunoglobulin V-set domain Domain
PF00193 Xlink 163 267 Extracellular link domain Domain
PF00193 Xlink 274 364 Extracellular link domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in brain. {ECO:0000269|PubMed:12663660}.
Sequence
Sequence length 402
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes with ophthalmic manifestations (PheCode 250.23) N/A N/A GWAS
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 37418754
Bipolar Disorder Associate 37418754
Glioma Associate 19633295
Neoplasms Inhibit 19633295
Schizophrenia Associate 37418754