HAPLN2

Hyaluronan and proteoglycan link protein 2 (HAPLN2) also known as brain link protein 1 (BRAL1) is a protein that in humans is encoded by the HAPLN2 gene.^[5] HAPLN1 codes for a related link protein that is expressed in cartilage while Bral1 is expressed in brain.

HAPLN2
Identifiers
Aliases	HAPLN2, BRAL1, hyaluronan and proteoglycan link protein 2
External IDs	MGI: 2137300; HomoloGene: 11045; GeneCards: HAPLN2; OMA:HAPLN2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q23.1 Start 156,619,331 bp[1] End 156,625,725 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F1|3 38.78 cM Start 87,929,057 bp[2] End 87,934,890 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in C1 segment putamen right hemisphere of cerebellum Amygdala right frontal lobe inferior ganglion of vagus nerve caudate nucleus substantia nigra nucleus accumbens inferior olivary nucleus Top expressed in lumbar subsegment of spinal cord primary visual cortex motor neuron superior frontal gyrus anterior horn of spinal cord cerebellar cortex substantia nigra deep cerebellar nuclei brain stem embryo More reference expression data BioGPS n/a
Gene ontology Molecular function hyaluronic acid binding extracellular matrix structural constituent Cellular component extracellular region extracellular matrix Biological process establishment of blood-nerve barrier central nervous system development extracellular matrix assembly skeletal system development cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 60484 73940 Ensembl ENSG00000132702 ENSMUSG00000004894 UniProt Q9GZV7 Q9ESM3 RefSeq (mRNA) NM_021817 NM_022031 RefSeq (protein) NP_068589 NP_071314 Location (UCSC) Chr 1: 156.62 – 156.63 Mb Chr 3: 87.93 – 87.93 Mb PubMed search [3] [4]
Wikidata
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Function

Bral1 interacts with versican and brevican in nodes of Ranvier. In mice with reduced Bralp1 expression the extracellular matrix at nodes of Ranvier is disrupted and action potential conduction is abnormal.^[6]