Hapln4 hyaluronan and proteoglycan link protein 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hapln4provided by MGI
Official Full Name: hyaluronan and proteoglycan link protein 4provided by MGI
Primary source: MGI:MGI:2679531
See related: Ensembl:ENSMUSG00000007594 AllianceGenome:MGI:2679531
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Lpr4; Bral2; 9330174O11
Summary: A structural constituent of synapse-associated extracellular matrix. Involved in GABAergic synaptic transmission and inhibitory synapse assembly. Located in perineuronal net. Is expressed in brain and liver. Orthologous to human HAPLN4 (hyaluronan and proteoglycan link protein 4). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in cerebellum adult (RPKM 30.4), cortex adult (RPKM 16.2) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.3; 8 34.15 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (70536179..70543512)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (70083529..70090862)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

The Effect of Hapln4 Link Protein Deficiency on Extracellular Space Diffusion Parameters and Perineuronal Nets in the Auditory System During Aging.
Title: The Effect of Hapln4 Link Protein Deficiency on Extracellular Space Diffusion Parameters and Perineuronal Nets in the Auditory System During Aging.
The results of this study suggested that aging is a critical point revealing the effect of Bral2 deficiency on extracellular space diffusion in the thalamic ventroposteromedial nucleus.
Title: A deficiency of the link protein Bral2 affects the size of the extracellular space in the thalamus of aged mice.
The efficiency of the pre-pulse inhibition of the acoustic startle reflex significantly increased in post-natal wild-type mice compared to Bral2 knock-out mice.
Title: The absence of brain-specific link protein Bral2 in perineuronal nets hampers auditory temporal resolution and neural adaptation in mice.
these results imply that Bral2-brevican interaction may play a key role in synaptic stabilization and the structural integrity of brain perineuronal nets
Title: Bral2 is indispensable for the proper localization of brevican and the structural integrity of the perineuronal net in the brainstem and cerebellum.

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Variation

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Alleles

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

Endonuclease-mediated (3)
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
enables structural constituent of synapse-associated extracellular matrix	IMP Inferred from Mutant Phenotype more info	PubMed

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
involved_in inhibitory synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, GABAergic	IMP Inferred from Mutant Phenotype more info	PubMed

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

General protein information

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Preferred Names: hyaluronan and proteoglycan link protein 4

Names: brain link protein 2; brain linked protein 2; link protein 4

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_177900.4 → NP_808568.1 hyaluronan and proteoglycan link protein 4 precursor

See identical proteins and their annotated locations for NP_808568.1

Status: PROVISIONAL

Source sequence(s)

AC167132

Consensus CDS

CCDS40365.1

UniProtKB/Swiss-Prot

Q05AB1, Q80WM4, Q80XX2

Related

ENSMUSP00000007738.10, ENSMUST00000007738.11

Conserved Domains (3) summary

cd03519
Location:272 → 362

Link_domain_HAPLN_module_2; 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 ...

cl02612
Location:164 → 265

Link_Domain; The link domain is a hyaluronan (HA)-binding domain. It functions to mediate adhesive interactions during inflammatory leukocyte homing and tumor metastasis. It is found in the CD44 receptor and in human TSG-6. TSG-6 is the protein product of the tumor ...

cl11960
Location:61 → 165

Ig; Immunoglobulin domain