HAPLN2 hyaluronan and proteoglycan link protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HAPLN2provided by HGNC
Official Full Name: hyaluronan and proteoglycan link protein 2provided by HGNC
Primary source: HGNC:HGNC:17410
See related: Ensembl:ENSG00000132702 MIM:619726; AllianceGenome:HGNC:17410
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: BRAL1
Summary: Predicted to enable hyaluronic acid binding activity. Predicted to be involved in nervous system development; positive regulation of neuroblast proliferation; and skeletal system development. Predicted to act upstream of or within establishment of blood-nerve barrier and extracellular matrix assembly. Predicted to be located in extracellular matrix. Predicted to be active in extracellular space; perineuronal net; and synapse. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 7.0), prostate (RPKM 0.6) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (156601504..156625725)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (155737884..155762124)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (156589207..156595517)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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.
This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia.
Title: Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
gene locus at chromosome 1q21-23.
Title: Human BRAL1 and BCAN genes that belong to the link-module superfamily are tandemly arranged on chromosome 1q21-23.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of hyaluronan and proteoglycan link protein 2 (HAPLN2) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hyaluronic acid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction 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 establishment of blood-nerve barrier	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix assembly	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in node of Ranvier	IEA Inferred from Electronic Annotation more info
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_021817.3 → NP_068589.1 hyaluronan and proteoglycan link protein 2 precursor

See identical proteins and their annotated locations for NP_068589.1

Status: VALIDATED

Source sequence(s)

AB049054, BC029864

Consensus CDS

CCDS1148.1

UniProtKB/Swiss-Prot

Q5T3J0, Q9GZV7

UniProtKB/TrEMBL

B7Z1Z4

Related

ENSP00000255039.1, ENST00000255039.6

Conserved Domains (3) summary

cd03518
Location:148 → 241

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:250 → 337

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:49 → 149

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

156601504..156625725

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017002020.2 → XP_016857509.1 hyaluronan and proteoglycan link protein 2 isoform X1

UniProtKB/Swiss-Prot

Q5T3J0, Q9GZV7

UniProtKB/TrEMBL

B7Z1Z4

Conserved Domains (3) summary

cd03518
Location:148 → 241

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:250 → 337

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:49 → 149

Ig; Immunoglobulin domain
XM_047427123.1 → XP_047283079.1 hyaluronan and proteoglycan link protein 2 isoform X2

UniProtKB/TrEMBL

B7Z1R1
XM_011509853.3 → XP_011508155.1 hyaluronan and proteoglycan link protein 2 isoform X1

See identical proteins and their annotated locations for XP_011508155.1

UniProtKB/Swiss-Prot

Q5T3J0, Q9GZV7

UniProtKB/TrEMBL

B7Z1Z4

Conserved Domains (3) summary

cd03518
Location:148 → 241

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:250 → 337

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:49 → 149

Ig; Immunoglobulin domain

Reference GRCh38.p14 PATCHES

Genomic

NW_025791758.1 Reference GRCh38.p14 PATCHES

Range

160063..184284

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332854.1 → XP_054188829.1 hyaluronan and proteoglycan link protein 2 isoform X1

UniProtKB/Swiss-Prot

Q5T3J0, Q9GZV7
XM_054332856.1 → XP_054188831.1 hyaluronan and proteoglycan link protein 2 isoform X2

UniProtKB/TrEMBL

B7Z1R1
XM_054332855.1 → XP_054188830.1 hyaluronan and proteoglycan link protein 2 isoform X1

UniProtKB/Swiss-Prot

Q5T3J0, Q9GZV7

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

155737884..155762124

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338073.1 → XP_054194048.1 hyaluronan and proteoglycan link protein 2 isoform X1

UniProtKB/Swiss-Prot

Q5T3J0, Q9GZV7
XM_054338075.1 → XP_054194050.1 hyaluronan and proteoglycan link protein 2 isoform X2

UniProtKB/TrEMBL

B7Z1R1
XM_054338074.1 → XP_054194049.1 hyaluronan and proteoglycan link protein 2 isoform X1

UniProtKB/Swiss-Prot

Q5T3J0, Q9GZV7