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Aliases for HABP2 Gene

Aliases for HABP2 Gene

  • Hyaluronan Binding Protein 2 2 3 5
  • Hepatocyte Growth Factor Activator-Like Protein 3 4
  • Plasma Hyaluronan Binding Protein 2 3
  • Factor Seven-Activating Protease 3 4
  • Factor VII-Activating Protease 3 4
  • Factor VII Activating Protein 2 3
  • Hyaluronan-Binding Protein 2 2 3
  • HGFAL 3 4
  • FSAP 3 4
  • PHBP 3 4
  • Hyaluronic Acid Binding Protein 2 3
  • Plasma Hyaluronan-Binding Protein 4
  • EC 3.4.21.92 56
  • EC 3.4.21.4 56
  • EC 3.4.21.- 4
  • EC 3.4.21 56
  • NMTC5 3
  • HABP 3

External Ids for HABP2 Gene

Previous GeneCards Identifiers for HABP2 Gene

  • GC10P114208
  • GC10P114546
  • GC10P115444
  • GC10P114977
  • GC10P115302
  • GC10P108937

Summaries for HABP2 Gene

Entrez Gene Summary for HABP2 Gene

  • 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]

GeneCards Summary for HABP2 Gene

HABP2 (Hyaluronan Binding Protein 2) is a Protein Coding gene. Diseases associated with HABP2 include Thyroid Cancer, Nonmedullary, 5 and Thrombophilia Due To Thrombin Defect. Gene Ontology (GO) annotations related to this gene include calcium ion binding and glycosaminoglycan binding. An important paralog of this gene is F12.

UniProtKB/Swiss-Prot for HABP2 Gene

  • Cleaves the alpha-chain at multiple sites and the beta-chain between Lys-53 and Lys-54 but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and does not cause the fibrinolysis directly. It does not cleave (activate) prothrombin and plasminogen but converts the inactive single chain urinary plasminogen activator (pro-urokinase) to the active two chain form. Activates coagulation factor VII (PubMed:8827452, PubMed:10754382, PubMed:11217080). May function as a tumor suppressor negatively regulating cell proliferation and cell migration (PubMed:26222560).

Gene Wiki entry for HABP2 Gene

Additional gene information for HABP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HABP2 Gene

Genomics for HABP2 Gene

GeneHancer (GH) Regulatory Elements for HABP2 Gene

Promoters and enhancers for HABP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I113549 Promoter/Enhancer 1.2 EPDnew ENCODE 550.8 -0.2 -204 1.5 FOXA2 JUN ZBTB40 YY1 RXRA REST ZNF518A GABPA NR2F2 FOXA1 HABP2 PPIAP39
GH10I113551 Promoter/Enhancer 1.1 EPDnew ENCODE 550.8 +3.4 3439 4.6 FOXA2 MAX MNT REST NR2F2 YY1 FOXA1 JUND GATA3 ATF3 HABP2 NRAP
GH10I113567 Promoter 0.5 EPDnew 550.4 +16.6 16552 0.1 HABP2 NRAP
GH10I113521 Enhancer 0.7 ENCODE 11 -29.5 -29464 0.2 CTCF ZNF792 PYGO2 RAD21 RFX5 ZNF664 SMC3 ZNF143 RCOR1 ZNF444 HABP2 PPIAP39
GH10I113480 Enhancer 0.7 ENCODE 10.7 -69.6 -69624 0.7 SMARCE1 PKNOX1 FOXA2 NEUROD1 DPF2 FOXA1 ZNF217 CTBP1 JUND GATA3 PPIAP39 HABP2 PIR51548
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HABP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HABP2 gene promoter:

Genomic Locations for HABP2 Gene

Genomic Locations for HABP2 Gene
chr10:113,550,831-113,589,602
(GRCh38/hg38)
Size:
38,772 bases
Orientation:
Plus strand
chr10:115,310,590-115,349,361
(GRCh37/hg19)

Genomic View for HABP2 Gene

Genes around HABP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HABP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HABP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HABP2 Gene

Proteins for HABP2 Gene

  • Protein details for HABP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14520-HABP2_HUMAN
    Recommended name:
    Hyaluronan-binding protein 2
    Protein Accession:
    Q14520
    Secondary Accessions:
    • A8K467
    • B7Z8U5
    • F5H5M6
    • O00663

    Protein attributes for HABP2 Gene

    Size:
    560 amino acids
    Molecular mass:
    62672 Da
    Quaternary structure:
    • Heterodimer; disulfide-linked. Heterodimer of a 50 kDa heavy and a 27 kDa light chain linked by a disulfide bond (By similarity).

    Alternative splice isoforms for HABP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HABP2 Gene

Selected DME Specific Peptides for HABP2 Gene

Q14520:
  • VLTAAHC
  • CNSRQLYDH
  • GDSGGPL
  • LESLDPD
  • CLYWNSHLLLQE
  • WVLTAAHCT
  • LKVVLGDQDL
  • CQGDSGGP
  • YNMFMEDAE
  • WVLTAAH

Post-translational modifications for HABP2 Gene

  • Proteolytic cleavage at Gly-23 or Met-27 can give rise to the 50 kDa heavy chain and cleavage at Arg-313 or Lys-319 can give rise to the 27 kDa light chain. The heavy chain can undergo further proteolytic cleavage at Lys-169 or Arg-170 to give rise to 2 inactive 26 kDa fragments and the light chain can undergo further proteolytic cleavage at Arg-480 to give rise to inactive 17 kDa and 8 kDa fragments (By similarity).
  • Glycosylation at posLast=5454 and isoforms=2207

Other Protein References for HABP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for HABP2 Gene

Gene Families for HABP2 Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

Q14520

UniProtKB/Swiss-Prot:

HABP2_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with HABP2: view

Function for HABP2 Gene

Molecular function for HABP2 Gene

UniProtKB/Swiss-Prot Function:
Cleaves the alpha-chain at multiple sites and the beta-chain between Lys-53 and Lys-54 but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and does not cause the fibrinolysis directly. It does not cleave (activate) prothrombin and plasminogen but converts the inactive single chain urinary plasminogen activator (pro-urokinase) to the active two chain form. Activates coagulation factor VII (PubMed:8827452, PubMed:10754382, PubMed:11217080). May function as a tumor suppressor negatively regulating cell proliferation and cell migration (PubMed:26222560).

Enzyme Numbers (IUBMB) for HABP2 Gene

Phenotypes From GWAS Catalog for HABP2 Gene

Gene Ontology (GO) - Molecular Function for HABP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0005539 glycosaminoglycan binding TAS 8827452
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with HABP2: view
genes like me logo Genes that share phenotypes with HABP2: view

Human Phenotype Ontology for HABP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HABP2 Gene

MGI Knock Outs for HABP2:

Animal Model Products

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for HABP2 Gene

Localization for HABP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HABP2 Gene

Secreted. Note=Secreted as an inactive single-chain precursor and is then activated to a heterodimeric form.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HABP2 gene
Compartment Confidence
extracellular 5
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HABP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
GO:0005615 extracellular space TAS 8827452
genes like me logo Genes that share ontologies with HABP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HABP2 Gene

Pathways & Interactions for HABP2 Gene

SuperPathways for HABP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HABP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007155 cell adhesion TAS 8827452
genes like me logo Genes that share ontologies with HABP2: view

No data available for Pathways by source and SIGNOR curated interactions for HABP2 Gene

Drugs & Compounds for HABP2 Gene

(5) Drugs for HABP2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronic acid Approved, Vet_approved Pharma Target, binder 535

(5) Additional Compounds for HABP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HABP2: view

Transcripts for HABP2 Gene

mRNA/cDNA for HABP2 Gene

Unigene Clusters for HABP2 Gene

Hyaluronan binding protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HABP2 Gene

No ASD Table

Relevant External Links for HABP2 Gene

GeneLoc Exon Structure for
HABP2
ECgene alternative splicing isoforms for
HABP2

Expression for HABP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HABP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HABP2 Gene

This gene is overexpressed in Liver (x45.3).

Protein differential expression in normal tissues from HIPED for HABP2 Gene

This gene is overexpressed in Serum (30.6), Plasma (14.2), Synovial fluid (8.4), and Vitreous humor (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HABP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of HABP2 Gene:

HABP2

SOURCE GeneReport for Unigene cluster for HABP2 Gene:

Hs.422542

mRNA Expression by UniProt/SwissProt for HABP2 Gene:

Q14520-HABP2_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for HABP2 Gene

  • Liver(4.6)
  • Intestine(4.1)
  • Bone marrow(4)
  • Blood(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HABP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • endocrine
Organs:
Head and neck:
  • neck
  • parathyroid
  • thyroid
genes like me logo Genes that share expression patterns with HABP2: view

No data available for Protein tissue co-expression partners for HABP2 Gene

Orthologs for HABP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HABP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HABP2 33 34
  • 99.05 (n)
dog
(Canis familiaris)
Mammalia HABP2 33 34
  • 86.3 (n)
cow
(Bos Taurus)
Mammalia HABP2 33 34
  • 85.24 (n)
mouse
(Mus musculus)
Mammalia Habp2 33 16 34
  • 81.69 (n)
rat
(Rattus norvegicus)
Mammalia Habp2 33
  • 80.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HABP2 34
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HABP2 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves HABP2 33 34
  • 60.52 (n)
lizard
(Anolis carolinensis)
Reptilia HABP2 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia habp2 33
  • 54.09 (n)
zebrafish
(Danio rerio)
Actinopterygii habp2 33 34
  • 56.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6048 35
  • 33 (a)
Tequila 34
  • 6 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea svh-1 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToOne
Species where no ortholog for HABP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HABP2 Gene

ENSEMBL:
Gene Tree for HABP2 (if available)
TreeFam:
Gene Tree for HABP2 (if available)

Paralogs for HABP2 Gene

Paralogs for HABP2 Gene

genes like me logo Genes that share paralogs with HABP2: view

Variants for HABP2 Gene

Sequence variations from dbSNP and Humsavar for HABP2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs10885478 likely-benign, Factor VII Marburg I Variant Thrombophilia 113,589,157(+) G/A/T 3_prime_UTR_variant
rs111397043 uncertain-significance, Factor VII Marburg I Variant Thrombophilia 113,577,214(+) C/T coding_sequence_variant, synonymous_variant
rs113091571 uncertain-significance, Factor VII Marburg I Variant Thrombophilia 113,585,799(+) G/C coding_sequence_variant, missense_variant
rs11575688 likely-benign, Factor VII Marburg I Variant Thrombophilia 113,583,298(+) G/C coding_sequence_variant, missense_variant
rs11575695 likely-benign, Factor VII Marburg I Variant Thrombophilia 113,553,051(+) T/C 5_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HABP2 Gene

Variant ID Type Subtype PubMed ID
esv3624603 CNV gain 21293372
esv3624604 CNV gain 21293372
nsv1048819 CNV gain 25217958
nsv519312 CNV loss 19592680
nsv525228 CNV loss 19592680
nsv7211 OTHER inversion 18451855
nsv7555 CNV deletion 18451855
nsv831994 CNV gain 17160897

Variation tolerance for HABP2 Gene

Residual Variation Intolerance Score: 88.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.74; 46.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HABP2 Gene

Human Gene Mutation Database (HGMD)
HABP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HABP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HABP2 Gene

Disorders for HABP2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for HABP2 Gene - From: HGMD, OMIM, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HABP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HABP2_HUMAN
  • Thyroid cancer, non-medullary, 5 (NMTC5) [MIM:616535]: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. {ECO:0000269 PubMed:12578864, ECO:0000269 PubMed:26222560}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for HABP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HABP2: view

No data available for Genatlas for HABP2 Gene

Publications for HABP2 Gene

  1. Purification and characterization of a novel hyaluronan-binding protein (PHBP) from human plasma: it has three EGF, a kringle and a serine protease domain, similar to hepatocyte growth factor activator. (PMID: 8827452) Choi-Miura NH … Tomita M (Journal of biochemistry 1996) 2 3 4 22 58
  2. The Marburg I variant (G534E) of the factor VII-activating protease determines liver fibrosis in hepatitis C infection by reduced proteolysis of platelet-derived growth factor BB. (PMID: 19105210) Wasmuth HE … Weiskirchen R (Hepatology (Baltimore, Md.) 2009) 3 22 44 58
  3. Factor VII-activating protease in patients with acute deep venous thrombosis. (PMID: 18394684) Sidelmann JJ … Jespersen J (Thrombosis research 2008) 3 22 44 58
  4. Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism: frequency distribution in a healthy German population. (PMID: 17003923) Hoppe B … Salama A (Thrombosis and haemostasis 2006) 3 22 44 58
  5. Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism. (PMID: 15486068) Hoppe B … Salama A (Blood 2005) 3 22 44 58

Products for HABP2 Gene

Sources for HABP2 Gene

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