Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	60484
Gene name	Hyaluronan and proteoglycan link protein 2
Gene symbol	HAPLN2
Synonyms (NCBI Gene)	BRAL1
Chromosome	1
Chromosome location	1q23.1

Show/Hide all (37)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017836	hsa-miR-335-5p	Microarray	18185580
MIRT1040703	hsa-miR-155	CLIP-seq
MIRT1040704	hsa-miR-223	CLIP-seq
MIRT1040705	hsa-miR-3135b	CLIP-seq
MIRT1040706	hsa-miR-3194-5p	CLIP-seq
MIRT1040707	hsa-miR-365	CLIP-seq
MIRT1040708	hsa-miR-4257	CLIP-seq
MIRT1040709	hsa-miR-4313	CLIP-seq
MIRT1040710	hsa-miR-4462	CLIP-seq
MIRT1040711	hsa-miR-4640-5p	CLIP-seq
MIRT1040712	hsa-miR-4707-5p	CLIP-seq
MIRT1040713	hsa-miR-4718	CLIP-seq
MIRT1040714	hsa-miR-4726-5p	CLIP-seq
MIRT1040715	hsa-miR-510	CLIP-seq
MIRT1040716	hsa-miR-512-5p	CLIP-seq
MIRT1040717	hsa-miR-569	CLIP-seq
MIRT1040718	hsa-miR-615-5p	CLIP-seq
MIRT1040719	hsa-miR-935	CLIP-seq
MIRT1040703	hsa-miR-155	CLIP-seq
MIRT2008515	hsa-miR-3620	CLIP-seq
MIRT1040707	hsa-miR-365	CLIP-seq
MIRT1040709	hsa-miR-4313	CLIP-seq
MIRT1040712	hsa-miR-4707-5p	CLIP-seq
MIRT1040717	hsa-miR-569	CLIP-seq
MIRT1040719	hsa-miR-935	CLIP-seq
MIRT1040703	hsa-miR-155	CLIP-seq
MIRT1040707	hsa-miR-365	CLIP-seq
MIRT1040708	hsa-miR-4257	CLIP-seq
MIRT1040715	hsa-miR-510	CLIP-seq
MIRT1040716	hsa-miR-512-5p	CLIP-seq
MIRT2388899	hsa-miR-1281	CLIP-seq
MIRT1040703	hsa-miR-155	CLIP-seq
MIRT1040707	hsa-miR-365	CLIP-seq
MIRT1040709	hsa-miR-4313	CLIP-seq
MIRT1040712	hsa-miR-4707-5p	CLIP-seq
MIRT1040717	hsa-miR-569	CLIP-seq
MIRT1040719	hsa-miR-935	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005540	Function	Hyaluronic acid binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007417	Process	Central nervous system development	IBA
GO:0008065	Process	Establishment of blood-nerve barrier	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS
GO:0033268	Component	Node of Ranvier	IEA
GO:0045202	Component	Synapse	IBA
GO:0072534	Component	Perineuronal net	IBA
GO:0085029	Process	Extracellular matrix assembly	IEA

MIM	HGNC	e!Ensembl
619726	17410	ENSG00000132702

Q9GZV7

Protein name

Hyaluronan and proteoglycan link protein 2 (Brain link protein 1)

Protein function

Mediates a firm binding of versican V2 to hyaluronic acid. May play a pivotal role in the formation of the hyaluronan-associated matrix in the central nervous system (CNS) which facilitates neuronal conduction and general structural stabilizatio

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07686	V-set	42 → 145	Immunoglobulin V-set domain	Domain
PF00193	Xlink	148 → 241	Extracellular link domain	Domain
PF00193	Xlink	249 → 337	Extracellular link domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed only in adult brain. {ECO:0000269|PubMed:11027579}.

Sequence

MPGWLTLPTLCRFLLWAFTIFHKAQGDPASHPGPHYLLPPIHEVIHSHRGATATLPCVLG
TTPPSYKVRWSKVEPGELRETLILITNGLHARGYGPLGGRARMRRGHRLDASLVIAGVRL
EDEGRYRCELINGIEDESVALTLSLEGVVFPYQPSRGRYQFNYYEAKQACEEQDGRLATY
SQLYQAWTEGLDWCNAGWLLEGSVRYPVLTARAPCGGRGRPGIRSYGPRDRMRDRYDAFC
FTSALAGQVFFVPGRLTLSEAHAACRRRGAVVAKVGHLYAAWKFSGLDQCDGGWLADGSV
RFPITTPRPRCGGLPDPGVRSFGFPRPQQAAYGTYCYAEN

Sequence length

340

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CRANIOSYNOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	36776048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30356407	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19633295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30949044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19034380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30949044		★★★★★ ★☆☆☆☆ Found in Text Mining only

HAPLN2 (hyaluronan and proteoglycan link protein 2)