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  2. HABP2 - hyaluronan binding protein 2 Gene

HABP2 - hyaluronan binding protein 2 Gene

中文名称:透明质酸结合蛋白 2

种属: Homo sapiens

同用名: FSAP; HABP; PHBP; HGFAL; NMTC5

基因 ID: 3026 | 基因类型: protein coding

关于 HABP2

Cytogenetic location: 10q25.3 Genomic coordinates (GRCh38): 10:113,550,831-113,589,602 (from NCBI)

This gene has 3 transcripts (splice variants), 225 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 158.0), gall bladder (RPKM 23.3) and 1 other tissue.

功能概要

该基因编码丝氨酸蛋白酶肽酶 S1 家族的成员。编码的前原蛋白由肝细胞分泌并经过蛋白水解处理以产生形成成熟异二聚体的重链和轻链。进一步的自身蛋白水解导致更小的无活性肽。这种细胞外蛋白酶结合透明质酸,并可能在凝血和纤维蛋白溶解系统中发挥作用。该基因的突变与非髓样甲状腺癌和静脉血栓栓塞症的易感性有关。选择性剪接会产生多种转录物变体,其中至少一种会编码经过蛋白水解处理的前原蛋白。[RefSeq 提供,2016 年 1 月]

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]

HABP2 基因产物(2)

mRNA Protein Name
NM_001177660.3 NP_001171131.1 hyaluronan-binding protein 2 isoform 2
NM_004132.5 NP_004123.1 hyaluronan-binding protein 2 isoform 1 preproprotein

HABP2 蛋白结构

EGF

EGF: EGF-like domain (77 - 105)

EGF

EGF: EGF-like domain (154 - 185)

Kringle

Kringle: Kringle domain (194 - 276)

Trypsin

Trypsin: Trypsin (314 - 550)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 560 a.a.
蛋白主名 其他名称

hyaluronan-binding protein 2

factor VII activating protein

重组 HABP2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70832 HABP2 Protein, Human (HEK293, His) Q14520-1 (F24-Q279) ≥95%

关联疾病

疾病名称 别名
Thyroid Cancer, Nonmedullary, 5

NMTC5

Thyroid Cancer, Non-Medullary, 5

Thyroid Cancer, Nonmedullary, 5, Susceptibility To

Cancer, Thyroid, Nonmedullary, Type 5

Thrombophilia Due To Thrombin Defect

Venous Thromboembolism

Venous Thrombosis

Thrombophilia Due To Factor 2 Defect

Thromboembolism

THPH1

Thromboembolism, Susceptibility To

Venous Thromboembolism, Susceptibility To

Venous Thrombosis, Protection Against

Prothrombin-Related Thrombophilia

Hyperprothrombinemia

Venous Thrombosis, Susceptibility To

Thrombophilia 1 Due To Thrombin Defect

F2-Related Thrombophilia

Factor Ii-Related Thrombophilia

Prothrombin 20210g>A Thrombophilia

Prothrombin G20210a Thrombophilia

Prothrombin Thrombophilia

Familial Papillary Or Follicular Thyroid Carcinoma

Fnmtc

Familial Pure Nonmedullary Thyroid Carcinoma

Familial Nonmedullary Thyroid Gland Carcinoma

Carotid Stenosis

Carotid Artery Stenosis

Stenosis, Carotid Artery

Melioidosis

Melioidosis, Susceptibility To

Acute And Fulminating Melioidosis

Nightcliff Gardener'S Disease

Pseudoglanders

Subacute And Chronic Melioidosis

Burkholderia Pseudomallei Infection

Whitmore Disease

Whitmore'S Disease

B Pseudomallei Infection

Epizootic Lymphangitis

Infection Due To Burkholderia Pseudomallei

Infection Due To Burkholderia Pseudomallei Nos

Infection Due To Malleomyces Pseudomallei

Infection Due To Pseudomonas Pseudomallei

Infection Due To Pseudomonas Pseudomallei Nos

Infection Due To Whitmore Bacillus

Stanton Disease

Palmoplantar Keratoderma, Punctate Type Ia

Keratosis Palmoplantaris Papulosa

Punctate Palmoplantar Keratoderma Type I

Ppkp1

Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type

PPKP1A

Kppp1

Punctate Palmoplantar Keratoderma Type 1

Palmoplantar Keratoderma, Punctate Type 1a

Palmoplantar Keratoderma, Punctate Type I

Keratoderma, Palmoplantar, Punctate Type Ia

Punctate Palmoplantar Keratoderma Type 1a

Punctate Palmoplantar Keratoderma Type 1b

Brauer-Buschke-Fischer Syndrome

Keratoderma, Palmoplantar Punctate Type 1

Type I Punctate Palmoplantar Keratoderma

Buschke-Fischer-Brauer Syndrome

Keratoderma, Palmoplantar, Punctate 1a

Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type

Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type

Punctate Palmoplantar Keratoderma Type Ia

Keratoderma, Palmoplantar, Punctate Type 1

Keratoderma, Palmoplantar, Punctate, Type Ia

Bacterial Pneumonia

Gram-Negative Pneumonia

Pneumonia Due To Other Gram-Negative Bacteria

Pneumonia Bacterial

Pneumonia, Bacterial

Acute Bacillus Pneumonia

Acute Bacterial Pneumonia

Bacillus Double Pneumonia

Bacillus Pneumonia

Bacteria Pneumonia

Bacterial Double Pneumonia

Bacterial Lobar Pneumonia

Bacterial Purulent Pneumonia

Bronchopneumonia Due To Bacteria Other Than S. Pneumoniae And H. Influenzae

Acute Pyelonephritis

Apn - [Acute Pyelonephritis]

Dicer1 Syndrome

Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome

Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome

Ppb Familial Tumor Susceptibility Syndrome

Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome

Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility

Dicer1-Related Pleuropulmonary Blastoma

Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome

Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome

Ppbftds

Doid:0081063

Carotid Artery Disease

Carotid Artery Diseases

Disorder Of Carotid Artery

Pyelitis
Carney Complex Variant

Carney Complex

Carney Syndrome

Carney Complex, Type 1

Lamb Syndrome

Name Syndrome

Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

Carney Complex - Trismus - Pseudocamptodactyly Syndrome

Carney Complex, Type 2

Car

Cnc1

Carney Myxoma-Endocrine Complex

Myxoma - Spotty Pigmentation - Endocrine Overactivity

Myxoma, Spotty Pigmentation, And Endocrine Overactivity

Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

Carney Complex-Trismus-Pseudocamptodactyly Syndrome

CACOV

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus HABP2 VGNC VGNC:55955
Felis catus HABP2 VGNC VGNC:67531
Rattus norvegicus HABP2 RGD RGD:1302979
Canis familiaris HABP2 VGNC VGNC:52994
Macaca mulatta HABP2 VGNC VGNC:73341
Mus musculus HABP2 MGD MGI:1196378
Others HABP2 NCBI