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

Gene ID: 404037, updated on 10-Dec-2024

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, Dec 2024]
Expression
Biased expression in small intestine (RPKM 9.9), duodenum (RPKM 7.8) and 4 other tissues See more
Orthologs
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Genomic context

See HAPLN4 in Genome Data Viewer
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_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:19313199-19313465 Neighboring gene regulatory factor X associated ankyrin containing protein Neighboring gene Sharpr-MPRA regulatory region 11890 Neighboring gene nuclear receptor 2C2 associated protein Neighboring gene Sharpr-MPRA regulatory region 3423 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:19324416-19324916 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:19324917-19325417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14343 Neighboring gene neurocan Neighboring gene RNA, U6 small nuclear 1028, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19380555-19381056 Neighboring gene transmembrane 6 superfamily member 2 Neighboring gene SURP and G-patch domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14344 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:19431454-19432425

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

General gene information

Potential readthrough

Included gene: TM6SF2

Clone Names

  • KIAA1926

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell adhesion  
involved_in central nervous system development  
involved_in inhibitory synapse assembly  
involved_in skeletal system development  
involved_in synaptic transmission, GABAergic  
Component Evidence Code Pubs
is_active_in extracellular space  
is_active_in perineuronal net  
located_in perineuronal net  
is_active_in synapse  

General protein information

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)

  1. NM_023002.3NP_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:163267
    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:60164
    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

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    19254756..19262804 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    19392206..19400254 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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