TCN2

Gene Name		transcobalamin II
Image
Gene Ontology Annotations	Cellular Component	Extracellular Region Extracellular Space Endosome Lysosomal Lumen Extracellular Vesicular Exosome
	Molecular Function	Cobalamin Binding Metal Ion Binding
	Biological Process	Vitamin Metabolic Process Water-soluble Vitamin Metabolic Process Cobalt Ion Transport Cobalamin Metabolic Process Cobalamin Transport Small Molecule Metabolic Process
Pathways		Metabolism of vitamins and cofactors Defective GIF causes intrinsic factor deficiency Defective CD320 causes methylmalonic aciduria Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Defective HLCS causes multiple carboxylase deficiency Defective MMAB causes methylmalonic aciduria type cblB Defective BTD causes biotidinase deficiency Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Defective MMAA causes methylmalonic aciduria type cblA Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective CUBN causes hereditary megaloblastic anemia 1 Cobalamin (Cbl, vitamin B12) transport and metabolism Defective AMN causes hereditary megaloblastic anemia 1 Defective MUT causes methylmalonic aciduria mut type Metabolism of water-soluble vitamins and cofactors Defects in biotin (Btn) metabolism Defective TCN2 causes hereditary megaloblastic anemia Defects in cobalamin (B12) metabolism Defects in vitamin and cofactor metabolism
Drugs
Diseases
GWAS
Protein-protein Interactions		3 interactors: APP CBL PAXIP1
Entrez ID		6948
HPRD ID		02037
Ensembl ID		ENSG00000185339
Uniprot IDs		P20062
PDB IDs		2BB5
Enriched GO Terms of Interacting Partners?		Regulation Of Epidermal Growth Factor Receptor Signaling Pathway Regulation Of ERBB Signaling Pathway Positive Regulation Of Histone H3-K36 Methylation Synaptic Growth At Neuromuscular Junction Collateral Sprouting In Absence Of Injury Collateral Sprouting Axon Midline Choice Point Recognition Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Axon Choice Point Recognition Regulation Of Cellular Amino Acid Metabolic Process Chorion Development Response To Radiation Neuron Remodeling Regulation Of Cellular Ketone Metabolic Process Positive Regulation Of Transcription Initiation From RNA Polymerase II Promoter Positive Regulation Of Histone H3-K4 Methylation Positive Regulation Of DNA-templated Transcription, Initiation Cellular Copper Ion Homeostasis Cellular Protein Modification Process Positive Regulation Of Histone Acetylation Regulation Of DNA-templated Transcription, Initiation Copper Ion Homeostasis Suckling Behavior Regulation Of Histone H3-K4 Methylation Positive Regulation Of Peptidyl-lysine Acetylation Positive Regulation Of G2/M Transition Of Mitotic Cell Cycle Positive Regulation Of Isotype Switching Positive Regulation Of Protein Acetylation Neuron Maturation MRNA Polyadenylation Regulation Of Epidermal Growth Factor-activated Receptor Activity Histone H3-K4 Methylation Mating Behavior Regulation Of Isotype Switching Endoplasmic Reticulum Calcium Ion Homeostasis Positive Regulation Of Immunoglobulin Mediated Immune Response RNA Polyadenylation Neuron Recognition Positive Regulation Of Receptor-mediated Endocytosis Adipose Tissue Development Positive Regulation Of Histone Methylation Positive Regulation Of Immunoglobulin Production Nucleotide-binding Domain, Leucine Rich Repeat Containing Receptor Signaling Pathway Positive Regulation Of Transcription From RNA Polymerase II Promoter Ionotropic Glutamate Receptor Signaling Pathway Regulation Of G2/M Transition Of Mitotic Cell Cycle Negative Regulation Of Epidermal Growth Factor Receptor Signaling Pathway Regulation Of Cell Cycle G2/M Phase Transition Negative Regulation Of ERBB Signaling Pathway Regulation Of Histone Acetylation
Tagcloud ?		1561c 677c 776g 80g accumulated aggravate b12 consequences defects deficiency folate gcp2 genetic hcy homocysteine hyperhomocysteinemia learned metabolism mthfr much neural nutrient pharmacogenetic polymorphisms rfc1 thcy tube variants vitamin