Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6948
Gene name Gene Name - the full gene name approved by the HGNC.
Transcobalamin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TCN2
Synonyms (NCBI Gene) Gene synonyms aliases
D22S676, D22S750, II, TC, TC II, TC-2, TC2, TCII
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobala
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs35915865 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs372866837 A>G,T Pathogenic Intron variant
rs606231119 T>G Pathogenic Intron variant, splice donor variant
rs778381859 TC>- Uncertain-significance, pathogenic-likely-pathogenic, pathogenic Frameshift variant, coding sequence variant
rs955351335 AG>- Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT621452 hsa-miR-208a-5p HITS-CLIP 23824327
MIRT621451 hsa-miR-208b-5p HITS-CLIP 23824327
MIRT621450 hsa-miR-1234-3p HITS-CLIP 23824327
MIRT621449 hsa-miR-7107-5p HITS-CLIP 23824327
MIRT621448 hsa-miR-150-5p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
SP1 Unknown 9774437
SP3 Unknown 9774437
USF1 Unknown 9774437
USF2 Unknown 9774437
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27411955
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA 21873635
GO:0005615 Component Extracellular space IDA 8443384
GO:0005768 Component Endosome TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613441 11653 ENSG00000185339
Protein
UniProt ID P20062
Protein name Transcobalamin-2 (TC-2) (Transcobalamin II) (TC II) (TCII)
Protein function Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells.
PDB 2BB5 , 4ZRP , 4ZRQ , 5NO0 , 5NP4 , 5NRP , 5NSA , 7QBD , 7QBE , 7QBF , 7QBG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01122 Cobalamin_bind 3 327 Eukaryotic cobalamin-binding protein Family
PF14478 DUF4430 352 426 Domain of unknown function (DUF4430) Domain
Sequence
Sequence length 427
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Vitamin digestion and absorption
Cobalamin transport and metabolism
  Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective TCN2 causes hereditary megaloblastic anemia
Defective CD320 causes methylmalonic aciduria
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agammaglobulinemia Agammaglobulinemia rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392
View all (17 more)
18956254, 18956255, 10518276
Anemia Anemia, Macrocytic, Anemia, Megaloblastic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
4627864
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
16917939
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
17389618
Unknown
Disease term Disease name Evidence References Source
Moyamoya Disease Moyamoya Disease GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acidosis Associate 35488219
Adrenoleukodystrophy Associate 19353223
Anemia Megaloblastic Associate 14689755, 33023511
Asthma Stimulate 26547705
Cerebral Infarction Associate 21935458
Chagas Cardiomyopathy Associate 36508471
Chagas Disease Associate 36508471
Cleft Lip Associate 27604992, 31663440, 31663447
Cleft Palate Associate 25716564, 27604992, 31663447
Colorectal Neoplasms Associate 19936946, 26108676