CD320 - CD320 molecule Gene

Also Known as 8D6; 8D6A; TCBLR; TCN2R

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51293

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	27411955	GOA
enables cargo receptor activity	EXP EXP: Inferred from Experiment	15652495	GOA
enables cobalamin binding	IDA IDA: Inferred from direct assay	18779389	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27411955	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in B cell costimulation	IMP IMP: Inferred from mutant phenotype	10727470	GOA
involved in cobalamin transport	IMP IMP: Inferred from mutant phenotype	18779389	GOA
involved in positive regulation of B cell proliferation	IMP IMP: Inferred from mutant phenotype	10727470	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	10727470	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CD320 Protein Structure

Ldl_recept_a

0
100
200
282 a.a.

Protein Preferred Names	Protein Names
CD320 antigen	8D6 antigen

Recombinant CD320 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72456	TCblR/CD320 Protein, Human (HEK293, His)	Q9NPF0-1 (S36-V231)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02234	CD320 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17653	Cd320 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24113	Cd320 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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