HABP2 hyaluronan binding protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HABP2provided by HGNC
Official Full Name: hyaluronan binding protein 2provided by HGNC
Primary source: HGNC:HGNC:4798
See related: Ensembl:ENSG00000148702 MIM:603924; AllianceGenome:HGNC:4798
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FSAP; HABP; PHBP; HGFAL; NMTC5
Summary: This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Expression: Biased expression in liver (RPKM 158.0), gall bladder (RPKM 23.3) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 10q25.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (113550831..113589602)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (114442457..114481225)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (115310590..115349361)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

FSAP Protects against Histone-Mediated Increase in Endothelial Permeability In Vitro.
Title: FSAP Protects against Histone-Mediated Increase in Endothelial Permeability In Vitro.
Development of a Factor VII Activating Protease (FSAP) generation assay and its application in studying FSAP in venous thrombosis.
Title: Development of a Factor VII Activating Protease (FSAP) generation assay and its application in studying FSAP in venous thrombosis.
FSAP aggravated endothelial dysfunction and neurological deficits in acute ischemic stroke due to large vessel occlusion.
Title: FSAP aggravated endothelial dysfunction and neurological deficits in acute ischemic stroke due to large vessel occlusion.
Factor VII activating protease (FSAP) is not essential in the pathophysiology of angioedema in patients with C1 inhibitor deficiency.
Title: Factor VII activating protease (FSAP) is not essential in the pathophysiology of angioedema in patients with C1 inhibitor deficiency.
Association between FSAP 1601G>A polymorphism and venous thromboembolism risk: A meta-analysis.
Title: Association between FSAP 1601G>A polymorphism and venous thromboembolism risk: A meta-analysis.
Cellular effects of factor VII activating protease (FSAP).
Title: Cellular effects of factor VII activating protease (FSAP).
Characterization of the enzymatic activity of the serine protease domain of Factor VII activating protease (FSAP).
Title: Characterization of the enzymatic activity of the serine protease domain of Factor VII activating protease (FSAP).
PAR-1 and -2 mediate cellular effects of factor VII activating protease (FSAP)
Title: Protease activated receptors (PAR)-1 and -2 mediate cellular effects of factor VII activating protease (FSAP).
FSAP inhibited VEGF165-mediated angiogenesis.
Title: VEGF-A-Cleavage by FSAP and Inhibition of Neo-Vascularization.
HABP2 Marburg-I variant is a strong regulator of FSAP activity. A novel locus near ADCY2 was identified as a potential additional regulator of FSAP activity.
Title: Genome-wide analysis of genetic determinants of circulating factor VII-activating protease (FSAP) activity.

Submit: New GeneRIF Correction See all GeneRIFs (78)

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

Associated conditions

Description	Tests
Thrombophilia due to thrombin defect MedGen: C3160733 OMIM: 188050 GeneReviews: Prothrombin Thrombophilia	Compare labs
Thyroid cancer, nonmedullary, 5 MedGen: C4225292 OMIM: 616535 GeneReviews: Not available	Compare labs

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

D10S2159 (e-PCR)
- UniSTS:50179

A007I48 (e-PCR)
- UniSTS:35945

D10S2202 (e-PCR)
- UniSTS:58999

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables glycosaminoglycan binding	TAS Traceable Author Statement more info	PubMed
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: hyaluronan-binding protein 2

Names: factor VII activating protein; factor VII-activating protease; factor seven-activating protease; hepatocyte growth factor activator-like protein; hyaluronic acid binding protein 2; plasma hyaluronan binding protein

NP_001171131.1

EC 3.4.21.92

NP_004123.1

EC 3.4.21.92

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.

Genomic

NG_008956.1 RefSeqGene

Range

5035..41584

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001177660.3 → NP_001171131.1 hyaluronan-binding protein 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AA484932, AI373912, AK303948, AL390197, D49742

Consensus CDS

CCDS53579.1

UniProtKB/Swiss-Prot

Q14520

Related

ENSP00000443283.1, ENST00000542051.5

Conserved Domains (4) summary

smart00020
Location:287 → 524

Tryp_SPc; Trypsin-like serine protease

cd00108
Location:165 → 251

KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...

cd00190
Location:288 → 527

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

pfam00008
Location:51 → 80

EGF; EGF-like domain
NM_004132.5 → NP_004123.1 hyaluronan-binding protein 2 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_004123.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA484932, AI373912, AL390197, D49742, DC413026

Consensus CDS

CCDS7577.1

UniProtKB/Swiss-Prot

A8K467, B7Z8U5, F5H5M6, O00663, Q14520

Related

ENSP00000277903.4, ENST00000351270.4

Conserved Domains (3) summary

cd00108
Location:191 → 277

KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...

cd00190
Location:314 → 553

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

pfam00008
Location:77 → 106

EGF; EGF-like domain