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

Gene ID: 404037, updated on 2-Oct-2018

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 Vega:OTTHUMG00000182221
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
Expression
Biased expression in small intestine (RPKM 9.9), duodenum (RPKM 7.8) and 4 other tissues See more
Orthologs

Genomic context

See HAPLN4 in Genome Data Viewer
Location:
19p13.11
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (19255641..19262787, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19366450..19373596, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene regulatory factor X associated ankyrin containing protein Neighboring gene nuclear receptor 2C2 associated protein Neighboring gene neurocan Neighboring gene RNA, U6 small nuclear 1028, pseudogene Neighboring gene transmembrane 6 superfamily member 2 Neighboring gene SURP and G-patch domain containing 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Markers

Potential readthrough

Included gene: TM6SF2

Homology

Clone Names

  • KIAA1926

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hyaluronic acid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
hyaluronan and proteoglycan link protein 4
Names
brain link protein 2

NCBI Reference Sequences (RefSeq)

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_023002.2NP_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)
    BC142644, BC142698
    Consensus CDS
    CCDS12398.1
    UniProtKB/Swiss-Prot
    Q86UW8
    Related
    ENSP00000291481.5, OTTHUMP00000268673, ENST00000291481.7, OTTHUMT00000460117
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    19255641..19262787 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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