P20062 · TCO2_HUMAN
- ProteinTranscobalamin-2
- GeneTCN2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids427 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells.
Features
Showing features for binding site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Binding site | 104 | cob(II)alamin (UniProtKB | ChEBI) | ||||
Sequence: Q | ||||||
Binding site | 152-156 | cob(II)alamin (UniProtKB | ChEBI) | ||||
Sequence: TSYYQ | ||||||
Binding site | 190 | Co (UniProtKB | ChEBI) of cob(II)alamin (UniProtKB | ChEBI); axial binding residue | ||||
Sequence: H | ||||||
Binding site | 190-194 | cob(II)alamin (UniProtKB | ChEBI) | ||||
Sequence: HHSVD | ||||||
Binding site | 242 | cob(II)alamin (UniProtKB | ChEBI) | ||||
Sequence: N | ||||||
Binding site | 245 | cob(II)alamin (UniProtKB | ChEBI) | ||||
Sequence: S | ||||||
Binding site | 291 | cob(II)alamin (UniProtKB | ChEBI) | ||||
Sequence: Q | ||||||
Binding site | 395-397 | cob(II)alamin (UniProtKB | ChEBI) | ||||
Sequence: WQL |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | external side of plasma membrane | |
Cellular Component | extracellular region | |
Cellular Component | extracellular space | |
Cellular Component | lysosomal lumen | |
Cellular Component | plasma membrane | |
Molecular Function | cargo receptor ligand activity | |
Molecular Function | cobalamin binding | |
Molecular Function | metal ion binding | |
Biological Process | cobalamin transport | |
Biological Process | cobalt ion transport |
Keywords
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTranscobalamin-2
- Short namesTC-2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP20062
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Transcobalamin II deficiency (TCN2D)
- Note
- DescriptionAn autosomal recessive disorder manifesting in early infancy and characterized by failure to thrive, megaloblastic anemia, pancytopenia, and agammaglobulinemia. Additional features include methylmalonic aciduria, recurrent infections, vomiting and diarrhea. TCN2D may be accompanied by neurological complications, including psychomotor and mental developmental delay, if untreated.
- See alsoMIM:275350
Natural variants in TCN2D
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_089509 | 81-427 | missing | in TCN2D; likely pathogenic | |
VAR_089510 | 345-427 | missing | in TCN2D; likely pathogenic |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_054539 | 23 | in dbSNP:rs9606756 | |||
Sequence: I → V | ||||||
Natural variant | VAR_089509 | 81-427 | in TCN2D; likely pathogenic | |||
Sequence: Missing | ||||||
Natural variant | VAR_054540 | 89 | in dbSNP:rs35915865 | |||
Sequence: F → L | ||||||
Natural variant | VAR_001638 | 198 | ||||
Sequence: M → T | ||||||
Natural variant | VAR_054541 | 215 | in dbSNP:rs35838082 | |||
Sequence: R → W | ||||||
Natural variant | VAR_001639 | 219 | ||||
Sequence: I → L | ||||||
Natural variant | VAR_054542 | 227 | in dbSNP:rs17849434 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_001640 | 259 | in dbSNP:rs1801198 | |||
Sequence: R → P | ||||||
Natural variant | VAR_089510 | 345-427 | in TCN2D; likely pathogenic | |||
Sequence: Missing | ||||||
Natural variant | VAR_054543 | 348 | in dbSNP:rs9621049 | |||
Sequence: S → F | ||||||
Natural variant | VAR_001641 | 376 | in dbSNP:rs1131603 | |||
Sequence: L → S | ||||||
Natural variant | VAR_054544 | 399 | in dbSNP:rs4820889 | |||
Sequence: R → Q |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 664 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, disulfide bond.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-18 | |||||
Sequence: MRHLGAFLFLLGVLGALT | ||||||
Chain | PRO_0000005564 | 19-427 | Transcobalamin-2 | |||
Sequence: EMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGYQQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANCEFVRGHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLGILALCLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGRRQRITMAIRTVREEILKAQTPEGHFGNVYSTPLALQFLMTSPMRGAELGTACLKARVALLASLQDGAFQNALMISQLLPVLNHKTYIDLIFPDCLAPRVMLEPAAETIPQTQEIISVTLQVLSLLPPYRQSISVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLRDPNTPLLQGIADYRPKDGETIELRLVSW | ||||||
Disulfide bond | 21↔267 | |||||
Sequence: CEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGYQQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANCEFVRGHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLGILALCLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGRRQRITMAIRTVREEILKAQTPEGHFGNVYSTPLALQFLMTSPMRGAELGTAC | ||||||
Disulfide bond | 83↔96 | |||||
Sequence: CLLGSAFSEDDGDC | ||||||
Disulfide bond | 116↔309 | |||||
Sequence: CEFVRGHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLGILALCLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGRRQRITMAIRTVREEILKAQTPEGHFGNVYSTPLALQFLMTSPMRGAELGTACLKARVALLASLQDGAFQNALMISQLLPVLNHKTYIDLIFPDC | ||||||
Disulfide bond | 165↔205 | |||||
Sequence: CLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTC |
Keywords
- PTM
Proteomic databases
Expression
Interaction
Subunit
Interacts with CD320 (via LDL-receptor class A domains).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P20062 | CD320 Q9NPF0 | 11 | EBI-2853005, EBI-1054562 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence & Isoform
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 2 isoforms produced by Alternative splicing.
P20062-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length427
- Mass (Da)47,535
- Last updated2009-03-03 v3
- ChecksumFD04A110941989DB
P20062-2
- Name2
- Differences from canonical
- 116-143: CEFVRGHKGDRLVSQLKWFLEDEKRAIG → W
Computationally mapped potential isoform sequences
There are 12 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
F8WE86 | F8WE86_HUMAN | TCN2 | 402 | ||
B5MBX2 | B5MBX2_HUMAN | TCN2 | 423 | ||
A0A8V8TNC0 | A0A8V8TNC0_HUMAN | TCN2 | 422 | ||
A0A8V8TNC5 | A0A8V8TNC5_HUMAN | TCN2 | 376 | ||
A0A8V8TM34 | A0A8V8TM34_HUMAN | TCN2 | 371 | ||
A0A8V8TM37 | A0A8V8TM37_HUMAN | TCN2 | 87 | ||
A0A8V8TN24 | A0A8V8TN24_HUMAN | TCN2 | 436 | ||
A0A8V8TN28 | A0A8V8TN28_HUMAN | TCN2 | 424 | ||
A0A8V8TLJ5 | A0A8V8TLJ5_HUMAN | TCN2 | 431 | ||
A0A8V8TLK0 | A0A8V8TLK0_HUMAN | TCN2 | 437 | ||
A0A8V8TLL7 | A0A8V8TLL7_HUMAN | TCN2 | 325 | ||
A0A8V8TLM2 | A0A8V8TLM2_HUMAN | TCN2 | 424 |
Features
Showing features for alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_043711 | 116-143 | in isoform 2 | |||
Sequence: CEFVRGHKGDRLVSQLKWFLEDEKRAIG → W |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
M60396 EMBL· GenBank· DDBJ | AAA61054.1 EMBL· GenBank· DDBJ | mRNA | ||
L02647 EMBL· GenBank· DDBJ | AAA61056.1 EMBL· GenBank· DDBJ | mRNA | ||
L02648 EMBL· GenBank· DDBJ | AAA61057.1 EMBL· GenBank· DDBJ | mRNA | ||
AF047576 EMBL· GenBank· DDBJ | AAC05491.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CR456591 EMBL· GenBank· DDBJ | CAG30477.1 EMBL· GenBank· DDBJ | mRNA | ||
AC005006 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC001176 EMBL· GenBank· DDBJ | AAH01176.1 EMBL· GenBank· DDBJ | mRNA | ||
BC011239 EMBL· GenBank· DDBJ | AAH11239.1 EMBL· GenBank· DDBJ | mRNA |