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  2. ERGIC3 - ERGIC and golgi 3 Gene

ERGIC3 - ERGIC and golgi 3 Gene

中文名称:ERGIC 和高尔基体 3

种属: Homo sapiens

同用名: Erv46; CGI-54; C2orf47; PRO0989; C20orf47; NY-BR-84; SDBCAG84; dJ477O4.2

基因 ID: 51614 | 基因类型: protein coding

关于 ERGIC3

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:35,542,078-35,557,634 (from NCBI)

This gene has 19 transcripts (splice variants), 215 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 113.7), testis (RPKM 112.2) and 25 other tissues.

功能概要

预测参与内质网至高尔基体囊泡介导的转运和逆行囊泡介导的转运,高尔基体至内质网。位于膜内。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

ERGIC3 基因产物(2)

mRNA Protein Name
NM_015966.3 NP_057050.1 endoplasmic reticulum-Golgi intermediate compartment protein 3 isoform b
NM_198398.2 NP_938408.1 endoplasmic reticulum-Golgi intermediate compartment protein 3 isoform a

ERGIC3 蛋白结构

ERGIC_N

ERGIC_N: Endoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC) (6 - 101)

COPIIcoated_ERV

COPIIcoated_ERV: Endoplasmic reticulum vesicle transporter (145 - 363)

  • 0
  • 100
  • 200
  • 300
  • 383 a.a.
蛋白主名 其他名称

endoplasmic reticulum-Golgi intermediate compartment protein 3

endoplasmic reticulum-localized protein ERp43

关联疾病

疾病名称 别名
Immunodeficiency 33

IMD33

X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency

X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Nemo Deficiency

X-Linked Msmd Due To Ikbkg Deficiency

X-Linked Msmd Due To Nemo Deficiency

Invasive Pneumococcal Disease, Recurrent Isolated, 2

Invasive Pneumococcal Disease, Recurrent Isolated, 2, Formerly

Ipd2, Formerly

Nf-Kappa B Essential Modulator Deficiency

Familial X-Linked 1 Atypical Mycobacteriosis

Nemo Deficiency Syndrome

Amcbx1

Familial, X-Linked, Atypical Mycobacteriosis 1

Ipd2

Recurrent Isolated Invasive Pneumococcal Disease 2

X-Linked Disseminated Atypical Mycobacterial Infection Type 1

X-Linked Immunodeficiency 33, Mycobacteriosis

X-Linked Susceptibility To Mycobacterial Disease Type 1

Invasive Pneumococcal Disease, Recurrent Isolated, Type 2

Atypical Mycobacteriosis, Familial, X-Linked 1

Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type

Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16

Atr Syndrome Linked To Chromosome 16

Atr Syndrome, Deletion Type

Atr-16 Syndrome

Alpha Thalassemia-Retardation Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type

Alpha-Thalassemia/Mental Retardation Syndrome, Type 1

Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type

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

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy

Bafme

Benign Adult Familial Myoclonic Epilepsy

Fame

Familial Cortical Myoclonic Tremor And Epilepsy

Fcmte

Adcme

Autosomal Dominant Cortical Myoclonus And Epilepsy

Fam

Epilepsy, Myoclonic, Familial Adult

Epilepsy, Myoclonic, Benign Adult Familial, Type 2

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
Macaca mulatta ERGIC3 VGNC VGNC:72274
Rattus norvegicus ERGIC3 RGD RGD:1308144
Mus musculus ERGIC3 MGD MGI:1913616
Bos taurus ERGIC3 VGNC VGNC:28580
Canis familiaris ERGIC3 VGNC VGNC:40452
Felis catus ERGIC3 VGNC VGNC:61941