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  2. HPSE2 - heparanase 2 (inactive) Gene

HPSE2 - heparanase 2 (inactive) Gene

中文名称:乙酰肝素酶 2 (无活性)

种属: Homo sapiens

同用名: UFS; HPA2; HPR2; UFS1

基因 ID: 60495 | 基因类型: protein coding

关于 HPSE2

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:98,457,077-99,315,951 (from NCBI)

This gene has 6 transcripts (splice variants), 93 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in esophagus (RPKM 5.3), prostate (RPKM 4.1) and 13 other tissues.

功能概要

该基因编码乙酰肝素酶。编码的蛋白质是一种内切糖苷酶,可降解位于细胞外基质和细胞表面的硫酸肝素蛋白多糖。这种蛋白质可能参与涉及细胞外基质重塑的生物过程,包括血管生成和肿瘤进展。交替剪接导致多个转录本变体。[RefSeq 提供,2009 年 10 月]

This gene encodes a heparanase Enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

HPSE2 基因产物(4)

mRNA Protein Name
NM_001166244.1 NP_001159716.1 inactive heparanase-2 isoform 2
NM_001166245.1 NP_001159717.1 inactive heparanase-2 isoform 3
NM_001166246.1 NP_001159718.1 inactive heparanase-2 isoform 4
NM_021828.5 NP_068600.4 inactive heparanase-2 isoform 1 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables heparan sulfate proteoglycan binding IDA
IDA: 通过直接分析推断
20576607 GOA
NOT enables heparanase activity IDA
IDA: 通过直接分析推断
20576607 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular matrix IDA
IDA: 通过直接分析推断
20576607 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

HPSE2 蛋白结构

Glyco_hydro_79n

Glyco_hydro_79n: Glycosyl hydrolase family 79, N-terminal domain (196 - 408)

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

inactive heparanase-2

heparanase 3

关联疾病

疾病名称 别名
Urofacial Syndrome 1

Urofacial Syndrome

Ochoa Syndrome

Hydronephrosis With Peculiar Facial Expression

Ufs

Inverted Smile And Occult Neuropathic Bladder

Partial Facial Palsy With Urinary Abnormalities

UFS1

Urofacial Ochoa'S Syndrome

Urofacial Syndrome Type 1

Facial Palsy, Partial, With Urinary Abnormalities

Hydronephrosis-Inverted Smile

Inverted Smile-Neurogenic Bladder

Hydronephrosis-Inverted Smile Syndrome

Inverted Smile-Neurogenic Bladder Syndrome

Partial Facial Palsy Partial With Urinary Abnormalities

Urologic Diseases

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

Lagophthalmos

Defective Lid Closure

Poor Closure Eyelids

Prune Belly Syndrome

Eagle-Barrett Syndrome

Abdominal Muscle Deficiency Syndrome

PBS

Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism

Egbrs

Eagle-Barret Syndrome

Urethral Obstruction Sequence

Obrinsky Syndrome

Triad Syndrome

Obrisnksy Syndrome

Euos

Early Urethral Obstruction Sequence

Renal Dysplasia Or Hydronephrosis, Oligohydramnios And Subsequent Lung Hypoplasia Due To Urethral Obstruction

Absence Of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism

Abdomen Muscle Deficiency Syndrome

Abdomen Muscular Deficiency Syndrome

Abdominal Muscular Deficiency Syndrome

Abdominal Muscle Aplasia Syndrome

Li-Fraumeni Syndrome 1

Lfs1

Neurogenic Bladder

Neurogenic Dysfunction Of The Urinary Bladder

Neurogenic Urinary Bladder Disorder

Neuropathic Bladder

Bladder Neurogenic

Urinary Bladder, Neurogenic

Neurogenic Urinary Bladder

Corpus Callosum, Agenesis Of, With Abnormal Genitalia

Proud Syndrome

Corpus Callosum Agenesis-Abnormal Genitalia Syndrome

Acc With Abnormal Genitalia

Proud-Levine-Carpenter Syndrome

Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome

Corpus Callosum Agenesis With Abnormal Genitalia

New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum

Proud Levine Carpenter Syndrome

Acc-Abnormal Genitalia Syndrome

Agenesis Of The Corpus Callosum, With Abnormal Genitalia

ACCAG

Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia

Congenital Neurologic Anomalies

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Berdon Syndrome

MMIHS

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis, Microcolon, Hypoperistalsis Syndrome

Visceral Myopathy

Mmih Syndrome

Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

MMIHS1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

Mmhs

Vesicoureteral Reflux

Vesico-Ureteral Reflux

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
Rattus norvegicus HPSE2 RGD RGD:1307959
Macaca mulatta HPSE2 VGNC VGNC:106058
Mus musculus HPSE2 MGD MGI:2685814