HAPLN4 hyaluronan and proteoglycan link protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HAPLN4provided by HGNC
Official Full Name: hyaluronan and proteoglycan link protein 4provided by HGNC
Primary source: HGNC:HGNC:31357
See related: Ensembl:ENSG00000187664 MIM:619710; AllianceGenome:HGNC:31357
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BRAL2
Summary: Predicted to be a structural constituent of synapse-associated extracellular matrix. Predicted to be involved in several processes, including GABAergic synaptic transmission; nervous system development; and positive regulation of neuroblast proliferation. Predicted to be located in extracellular region. Predicted to be active in extracellular space; perineuronal net; and synapse. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in small intestine (RPKM 9.9), duodenum (RPKM 7.8) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (19254756..19262804, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (19392206..19400254, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (19365565..19373613, complement)

Chromosome 19 - NC_000019.10 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area.
Results indicate that HAPLN4 and HAPLN2 are the predominant members of this family in the adult human brain but are strongly reduced in the tumor parenchyma.
Title: Reduced expression of the hyaluronan and proteoglycan link proteins in malignant gliomas.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S696E (e-PCR)
- UniSTS:150595

WI-16296 (e-PCR)
- UniSTS:11142

HAPLN4__6695 (e-PCR)
- UniSTS:463604

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hyaluronic acid binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of synapse-associated extracellular matrix	ISS Inferred from Sequence or Structural Similarity 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
involved_in glial cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in inhibitory synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuroblast proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, GABAergic	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
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	ISS Inferred from Sequence or Structural Similarity 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 4

Names: brain link protein 2

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_023002.3 → NP_075378.1 hyaluronan and proteoglycan link protein 4 precursor

See identical proteins and their annotated locations for NP_075378.1

Status: VALIDATED

Source sequence(s)

AC138430, BC142644, BC142698

Consensus CDS

CCDS12398.1

UniProtKB/Swiss-Prot

A5PKW5, Q86UW8, Q96PW2

Related

ENSP00000291481.5, ENST00000291481.8

Conserved Domains (2) summary

cl02612
Location:163 → 267

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:60 → 164

Ig; Immunoglobulin domain