2. Gene
  3. CD320 - CD320 molecule Gene

CD320 - CD320 molecule Gene

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

中文名称：CD320 分子

种属: Homo sapiens

同用名: 8D6; 8D6A; TCBLR; TCN2R

基因 ID: 51293 | 基因类型: protein coding

关于 CD320

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:8,302,127-8,308,358 (from NCBI)

This gene has 6 transcripts (splice variants), 83 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in spleen (RPKM 26.7), colon (RPKM 20.1) and 25 other tissues.

功能概要

该基因编码在细胞表面表达的钴胺素受体。它介导转钴胺素结合钴胺素 (维生素 B12) 的细胞摄取，并参与 B 细胞增殖和免疫球蛋白分泌。该基因的突变与甲基丙二酸尿症有关。已发现该基因编码不同亚型的可变剪接转录本变体。[RefSeq 提供，2011 年 1 月]

This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]

CD320 基因产物(2)

mRNA Protein Name
NM_001165895.2 NP_001159367.1 CD320 antigen isoform 2 precursor
NM_016579.4 NP_057663.1 CD320 antigen isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 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
27411955 GOA
enables cargo receptor activity EXP
EXP: 通过实验结果推断
15652495 GOA
enables cobalamin binding IDA
IDA: 通过直接分析推断
18779389 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
27411955 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in B cell costimulation IMP
IMP: 通过突变表型推断
10727470 GOA
involved in cobalamin transport IMP
IMP: 通过突变表型推断
18779389 GOA
involved in positive regulation of B cell proliferation IMP
IMP: 通过突变表型推断
10727470 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
10727470 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

CD320 蛋白结构

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (53 - 89)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (132 - 167)

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

CD320 antigen

8D6 antigen

重组 CD320 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72456 TCblR/CD320 Protein, Human (HEK293, His) Q9NPF0-1 (S36-V231) ≥95%

关联疾病

疾病名称 别名
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect

Methylmalonic Acidemia, Tcblr Type

MMATC

Methylmalonic Acidemia Tcblr Type

Methylmalonic Aciduria Due To Transcobalamin Receptor Defect

Methylmalonic Aciduria Type Tcblr
Methylmalonic Acidemia Due To Transcobalamin Receptor Defect

Methylmalonic Aciduria Due To Transcobalamin Receptor Defect

Methylmalonic Acidemia, Tcblr Type

Methylmalonic Acidemia, Tcb1r Type

Methylmalonic Acidemia, Tcbir Type

Aciduria, Methylmalonic, Due To Transcobalamin Receptor Defect
Anal Gland Adenocarcinoma

Adenocarcinoma Of Anal Ducts

Adenocarcinoma Of Anal Gland

Anal Glands Adenocarcinoma

Adenocarcinoma Of Anal Glands
Methylmalonic Aciduria, Cbla Type

Methylmalonic Acidemia Cbla Type

Methylmalonic Aciduria Cbla Type

Methylmalonic Acidemia, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type

Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla

Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla

Methylmalonic Aciduria Type Cbla

MMAA

Methylmalonic Aciduria Type A

Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A

Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A

Aciduria, Methylmalonic, Cbla Type

Methylmalonic Aciduria Cbla Type
Spleen Angiosarcoma

Angiosarcoma Of Spleen

Splenic Hemangiosarcoma
Anus Adenocarcinoma

Adenocarcinoma Of Anus

Adenocarcinoma Of The Anus
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Vitamin B12 Deficiency

Cobalamin Deficiency

Hypocobalaminemia

Vitamin B 12 Deficiency

Cyanocobalamin Deficiency

Deficiency Of Vitamin B12
Vitamin Metabolic Disorder
Congenital Intrinsic Factor Deficiency

Hereditary Intrinsic Factor Deficiency

Intrinsic Factor Deficiency

Congenital Pernicious Anemia

Gastric Intrinsic Factor Deficiency

Hereditary Juvenile Megaloblastic Anemia Due To Intrinsic Factor Deficiency

Ifd

Intrinsic Factor Deficiency, Congenital, Susceptibility To

Congenital Deficiency Of Intrinsic Factor

Megaloblastic Anemia Due To Inborn Errors Of Metabolism
Methylmalonic Aciduria And Homocystinuria, Cbld Type

Homocystinuria, Cbld Type, Variant 1

Methylmalonic Aciduria And Homocystinuria Type Cbld

Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2

MAHCD

Methylmalonic Acidemia And Homocystinuria, Cbld Type

Methylmalonic Aciduria, Cblh Type, Formerly

Methylmalonic Acidemia, Cblh Type, Formerly

Methylmalonic Aciduria, Cbld Type, Variant 2

Cobalamin D Deficiency

Methylcobalamin Deficiency Type Cbldv1

Functional Methionine Synthase Deficiency Type Cbldv1

Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2

Methylmalonic Acidemia With Homocystinuria, Type Cbld

Cbld Defect

Cobalamin D Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld

Methylmalonic Aciduria With Homocystinuria, Type Cbld

Homocystinuria Cbld Variant 1

Methylmalonic Acidemia And Homocystinuria Cbld Type

Methylmalonic Aciduria And Homocystinuria Cbld-Combined

Methylmalonic Aciduria And Homocystinuria Cbld Original

Methylmalonic Aciduria Cbld Variant 2

Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
Methylmalonic Aciduria, Cblb Type

Methylmalonic Aciduria Cblb Type

Methylmalonic Acidemia Cblb Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type

Methylmalonic Acidemia, Cblb Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type

Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb

Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb

Methylmalonic Aciduria Type Cblb

MMAB

Methylmalonic Aciduria Type B

Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B

Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B

Aciduria, Methylmalonic, Cblb Type

Methylmalonic Acidemia

Methylmalonic Aciduria
Combined Malonic And Methylmalonic Aciduria

CMAMMA

Combined Malonic And Methylmalonic Acidemia

Aciduria, Combined Malonic And Methylmalonic
Megaloblastic Anemia

Imerslund-Grasbeck Syndrome

Igs

Defect Of Enterocyte Intrinsic Factor Receptor

Enterocyte Cobalamin Malabsorption

Familial Megaloblastic Anemia

Megaloblastic Anemia 1

Selective Cobalamin Malabsorption With Proteinuria

Imerslund-Gräsbeck Syndrome

Anemia, Megaloblastic

Grasbeck-Imerslund Syndrome

Megaloblastic Anaemia

Mga1 Norwegian Type

Recessive Hereditary Megaloblastic Anaemia 1

Recessive Hereditary Megaloblastic Anemia 1

Rh-Mga1

Gräsbeck-Imerslund Disease

Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria

Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12

Anemia Megaloblastic

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

3-@Methylglutaconic Aciduria, Type I
Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia
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-RS02234 CD320 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 CD320 VGNC VGNC:60612
Canis familiaris CD320 VGNC VGNC:38949
Macaca mulatta CD320 VGNC VGNC:70763
Mus musculus CD320 MGD MGI:1860083
Rattus norvegicus CD320 RGD RGD:1305860
Bos taurus CD320 VGNC VGNC:52223
Others CD320 NCBI
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