Gene Gene information from NCBI Gene database.
Entrez ID 3026
Gene name Hyaluronan binding protein 2
Gene symbol HABP2
Synonyms (NCBI Gene)
FSAPHABPHGFALNMTC5PHBPPHBSP
Chromosome 10
Chromosome location 10q25.3
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 lead
miRNA miRNA information provided by mirtarbase database.
35
miRTarBase ID miRNA Experiments Reference
MIRT1040310 hsa-miR-214 CLIP-seq
MIRT1040311 hsa-miR-3170 CLIP-seq
MIRT1040312 hsa-miR-3619-5p CLIP-seq
MIRT1040313 hsa-miR-3646 CLIP-seq
MIRT1040314 hsa-miR-4291 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005539 Function Glycosaminoglycan binding TAS 8827452
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603924 4798 ENSG00000148702
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14520
Protein name Factor VII-activating protease (FSAP) (EC 3.4.21.-) (FVII activator) (Hepatocyte growth factor activator-like protein) (Hyaluronan-binding protein 2) (Plasma hyaluronan-binding protein) (PHBP) (Plasma hyaluronan-binding serine protease) (PHBSP) [Cleaved i
Protein 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 (PubMe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00008 EGF 77 107 EGF-like domain Domain
PF00008 EGF 154 186 EGF-like domain Domain
PF00051 Kringle 194 276 Kringle domain Domain
PF00089 Trypsin 314 550 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8827452}.
Sequence
Sequence length 560
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
135
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Factor VII Marburg I Variant Thrombophilia Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign rs7080536, rs11575695, rs768924245, rs111397043, rs142936446, rs11575755, rs145550399, rs377526977, rs372640275, rs2245058, rs535456555, rs886046744, rs751515984, rs886046747, rs886046749
View all (83 more)
RCV000286268
RCV000399909
RCV000340903
RCV000332439
RCV000278601
RCV000374086
RCV000284254
RCV000308139
RCV000274089
RCV000315252
RCV000261729
RCV000376114
RCV000349161
RCV000300970
RCV000267152
RCV000325192
RCV000330830
RCV000276918
RCV000339332
RCV000401497
RCV000399498
RCV000309209
RCV000368744
RCV000357334
RCV000288482
RCV000289965
RCV000305895
RCV000360136
RCV000306617
RCV000271133
RCV000373142
RCV000338306
RCV000369911
RCV000261272
RCV000322635
RCV000394120
RCV000392252
RCV000265934
RCV000361792
RCV000384471
RCV000295780
RCV000270195
RCV000366003
RCV000385322
RCV000344254
RCV000316525
RCV000321532
RCV000382956
RCV000348220
RCV000294193
RCV000354734
RCV000320992
RCV000330913
RCV000385416
RCV001107502
RCV001107503
RCV001103880
RCV001106838
RCV001106839
RCV001107501
RCV001103876
RCV001103878
RCV001103879
RCV001104163
RCV001104164
RCV001104165
RCV001104166
RCV001104167
RCV001106937
RCV001106939
RCV001106940
RCV001106941
RCV001107597
RCV001107598
RCV001107599
RCV001107600
RCV001107601
RCV001107602
RCV001103988
RCV001103989
RCV001104281
RCV001104282
RCV001107040
RCV001107041
RCV001107042
RCV001107043
RCV001107044
RCV001107701
RCV001104069
RCV001104070
RCV001104071
RCV001104378
RCV001107125
RCV001103877
RCV001103881
RCV001106938
RCV001103990
RCV001104280
FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM Conflicting classifications of pathogenicity rs7080536 RCV000006338
HABP2-related disorder Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign rs772097319, rs111397043, rs2245058, rs3740530, rs2245056, rs113091571, rs201266591, rs36039098, rs148362361, rs770805362, rs11575750, rs78201625, rs184372424 RCV003393056
RCV003950002
RCV003977860
RCV003977858
RCV003977859
RCV003910093
RCV005355626
RCV003934035
RCV003914476
RCV003971508
RCV003945812
RCV003953475
RCV003906202
Papillary renal cell carcinoma type 1 Likely benign rs771393045 RCV005913686
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 22850287
Breast Neoplasms Associate 28402931, 29665850
Carcinoma Hepatocellular Inhibit 24278187
Carcinoma Hepatocellular Associate 38110372
Cardiovascular Diseases Associate 19446554
Carotid Stenosis Associate 15486068, 21393601
Carotid Stenosis Stimulate 32856552
Cerebral Infarction Stimulate 22409238
Coronary Artery Disease Stimulate 22850287
Coronary Artery Disease Associate 29927903