1. Gene
  2. ITIH2 - inter-alpha-trypsin inhibitor heavy chain 2 Gene

ITIH2 - inter-alpha-trypsin inhibitor heavy chain 2 Gene

中文名称:α-胰蛋白酶抑制因子重链 2

种属: Homo sapiens

同用名: H2P; SHAP

基因 ID: 3698 | 基因类型: protein coding

关于 ITIH2

Cytogenetic location: 10p14 Genomic coordinates (GRCh38): 10:7,703,316-7,749,520 (from NCBI)

This gene has 6 transcripts (splice variants), 211 orthologues and 11 paralogues. Restricted expression toward liver (RPKM 486.6).

功能概要

α-胰蛋白酶抑制剂 (ITI) 是一类结构相关的血浆丝氨酸蛋白酶抑制剂,参与细胞外基质稳定和预防肿瘤转移。 ITI 家族包含多种由轻链 (参见 MIM 176870) 和可变数量的重链组成的蛋白质 (Salier 等人,1987 [PubMed 2446322];Himmelfarb 等人,2004 [PubMed 14744536]) 。[已提供由 OMIM,2009 年 11 月]

The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine Protease Inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]

ITIH2 基因产物(1)

mRNA Protein Name
NM_002216.3 NP_002207.2 inter-alpha-trypsin inhibitor heavy chain H2 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables hyaluronic acid binding IDA
IDA: 通过直接分析推断
20463016 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16873769 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ITIH2 蛋白结构

VIT

VIT: Vault protein inter-alpha-trypsin domain (68 - 185)

VWA

VWA: von Willebrand factor type A domain (310 - 477)

ITI_HC_C

ITI_HC_C: Inter-alpha-trypsin inhibitor heavy chain C-terminus (735 - 921)

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  • 946 a.a.
蛋白主名 其他名称

inter-alpha-trypsin inhibitor heavy chain H2

ITI heavy chain H2

关联疾病

疾病名称 别名
Thrombophilia Due To Hrg Deficiency

Hereditary Thrombophilia Due To Congenital Histidine-Rich Glycoprotein Deficiency

Hereditary Thrombophilia Due To Congenital Hrg Deficiency

Thph11

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
Mus musculus ITIH2 MGD MGI:96619
Macaca mulatta ITIH2 VGNC VGNC:73794
Felis catus ITIH2 VGNC VGNC:67860
Canis familiaris ITIH2 VGNC VGNC:42146
Rattus norvegicus ITIH2 RGD RGD:1565426
Bos taurus ITIH2 VGNC VGNC:50202