Hapln2 hyaluronan and proteoglycan link protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hapln2provided by MGI
Official Full Name: hyaluronan and proteoglycan link protein 2provided by MGI
Primary source: MGI:MGI:2137300
See related: Ensembl:ENSMUSG00000004894 AllianceGenome:MGI:2137300
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bral1; 4930401E20Rik
Summary: Predicted to enable hyaluronic acid binding activity. Acts upstream of or within establishment of blood-nerve barrier and extracellular matrix assembly. Located in extracellular matrix and node of Ranvier. Is expressed in brain. Orthologous to human HAPLN2 (hyaluronan and proteoglycan link protein 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 16.8), cortex adult (RPKM 6.9) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F1; 3 38.78 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (87927865..87934818, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (88020558..88027511, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hapln4/Bral2 is a perineuronal nets component that selectively contributes to formation and transmission of Purkinje cells-deep cerebellar nuclei synapses in the cerebellum
Title: Hapln4/Bral2 is a selective regulator for formation and transmission of GABAergic synapses between Purkinje and deep cerebellar nuclei neurons.
These findings provide an understanding of the mechanisms underlying the accumulation of cations due to diffusion barriers around the nodes during saltatory conduction, emphasizing the importance of the Bral1-based extramilieu for neuronal conductivity.
Title: Bral1: its role in diffusion barrier formation and conduction velocity in the CNS.
colocalizing with the versican V2 isoform at the nodes of Ranvier in developing and adult mouse central nervous systems.
Title: Bral1, a brain-specific link protein, colocalizing with the versican V2 isoform at the nodes of Ranvier in developing and adult mouse central nervous systems.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hyaluronic acid binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within establishment of blood-nerve barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within extracellular matrix assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in node of Ranvier	IDA Inferred from Direct Assay more info	PubMed
is_active_in perineuronal net	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: hyaluronan and proteoglycan link protein 2

Names: brain link protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_022031.2 → NP_071314.1 hyaluronan and proteoglycan link protein 2 precursor

See identical proteins and their annotated locations for NP_071314.1

Status: VALIDATED

Source sequence(s)

AB049055, AK081264, BE651789, BY122070

Consensus CDS

CCDS17463.1

UniProtKB/Swiss-Prot

Q9ESM3

UniProtKB/TrEMBL

B2RRU7

Related

ENSMUSP00000005014.3, ENSMUST00000005014.9

Conserved Domains (3) summary

cd03518
Location:149 → 242

Link_domain_HAPLN_module_1; this link domain is found in the first link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding domain. HAPLNs contain two ...

cd03519
Location:251 → 338

Link_domain_HAPLN_module_2; this link domain is found in the second link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding domain. HAPLNs contain two ...

cl11960
Location:50 → 150

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

87927865..87934818 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006502148.3 → XP_006502211.1 hyaluronan and proteoglycan link protein 2 isoform X1

See identical proteins and their annotated locations for XP_006502211.1

UniProtKB/Swiss-Prot

Q9ESM3

UniProtKB/TrEMBL

B2RRU7

Conserved Domains (3) summary

cd03518
Location:149 → 242

Link_domain_HAPLN_module_1; this link domain is found in the first link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding domain. HAPLNs contain two ...

cd03519
Location:251 → 338

Link_domain_HAPLN_module_2; this link domain is found in the second link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding domain. HAPLNs contain two ...

cl11960
Location:50 → 150

Ig; Immunoglobulin domain