2. Gene
  3. CEMIP2 - cell migration inducing hyaluronidase 2 Gene

CEMIP2 - cell migration inducing hyaluronidase 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：细胞迁移诱导透明质酸酶 2

种属: Homo sapiens

同用名: TMEM2

基因 ID: 23670 | 基因类型: protein coding

关于 CEMIP2

Cytogenetic location: 9q21.13 Genomic coordinates (GRCh38): 9:71,683,366-71,769,466 (from NCBI)

This gene has 13 transcripts (splice variants), 206 orthologues and 1 paralogue. Broad expression in placenta (RPKM 42.4), gall bladder (RPKM 25.8) and 23 other tissues.

功能概要

该基因编码属于干扰素诱导跨膜 (IFITM) 蛋白超家族的 II 型跨膜蛋白。编码的蛋白质作为细胞表面透明质酸酶起作用，在溶酶体中内化和降解之前将细胞外高分子量透明质酸切割成中等大小的片段。它还通过激活 JAK STAT 信号通路在人体中具有干扰素介导的抗病毒功能。已显示乳腺癌细胞中转录因子 SOX4 激活该基因可介导 SOX4 对癌症进展的病理影响。该基因中自然发生的突变与常染色体隐性非综合征性听力损失有关。[RefSeq 提供，2017 年 3 月]

This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated Antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast Cancer cells has been shown to mediate the pathological effects of SOX4 on Cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017]

CEMIP2 基因产物(3)

mRNA Protein Name
NM_001135820.2 NP_001129292.1 cell surface hyaluronidase isoform b
NM_001349784.2 NP_001336713.1 cell surface hyaluronidase isoform c
NM_013390.3 NP_037522.1 cell surface hyaluronidase isoform a
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 calcium ion binding IDA
IDA: 通过直接分析推断
28246172 GOA
enables hyalurononglucosaminidase activity IDA
IDA: 通过直接分析推断
37527776 GOA
NOT enables hyalurononglucosaminidase activity IMP
IMP: 通过突变表型推断
37196767 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
28246172 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

CEMIP2 蛋白结构

G8

G8: G8 domain (122 - 245)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1383 a.a.
蛋白主名 其他名称

cell surface hyaluronidase

transmembrane protein 2

关联疾病

疾病名称 别名
Inguinal Hernia

Hernia Inguinal

Hernia, Inguinal

Inguinal Hernias

Bubonocele

Indirect Inguinal Hernia

Direct Inguinal Hernia

Oblique Inguinal Hernia

Scrotal Hernia

Ih - [Inguinal Hernia]
Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive
Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Balantidiasis

Balantidiosis

Human Balantidiasis

B Coli Infection

Balantidium Coli Infection

Large-Intestinal Infection With Balantidium Coli

Ciliary Dysentery
Bartter Syndrome, Type 1, Antenatal

Hyperprostaglandin E Syndrome 1

Bartter Disease Type 1

BARTS1

Bartter Syndrome, Type 1

Bartter Syndrome Type 1

Hypokalemic Alkalosis With Hypercalciuria Antenatal 1

Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal

Bartter Syndrome Type 1 Antenatal

Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal

Bartter Syndrome Antenatal Type 1

Antenatal Bartter Syndrome Type 1

Bartter Syndrome Type I

Bartter Syndrome 1, Antenatal

Abs1

Antenatal Bartter Syndrome 1

Bs1

Bartter Syndrome, Antenatal Type 1

Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures

Bfie

Benign Familial Infantile Convulsion

Bfic

Bfis

Benign Familial Infantile Convulsions

Familial Benign Neonatal Epilepsy

Watanabe-Vigevano Syndrome
Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02469 CEMIP2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus CEMIP2 VGNC VGNC:60751
Bos taurus CEMIP2 VGNC VGNC:36021
Macaca mulatta CEMIP2 VGNC VGNC:103249
Rattus norvegicus CEMIP2 RGD RGD:1307941
Canis familiaris CEMIP2 VGNC VGNC:47518
Mus musculus CEMIP2 MGD MGI:1890373
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