Gene: Tcn2

Basic information

Tag Content
Uniprot ID O88968; Q3TD34; Q3UP69; Q5SQ21;
Entrez ID 21452
Genbank protein ID BAE36496.1; AAC61868.1; EDL40449.1; BAE21792.1; BAE27739.1; BAE41770.1; BAE25528.1; AAH03720.1;
Genbank nucleotide ID XM_006514613.3; NM_015749.3; NM_001130458.1; XM_006514612.3; XM_006514610.3; NM_001130459.1; XM_006514611.3;
Ensembl protein ID ENSMUSP00000105620; ENSMUSP00000105617; ENSMUSP00000105618; ENSMUSP00000020710; ENSMUSP00000105616; ENSMUSP00000105615; ENSMUSP00000105619;
Ensembl nucleotide ID ENSMUSG00000020432
Gene name Transcobalamin-2
Gene symbol Tcn2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells.
Sequence
MELLKALLLL SGVFGALAEF CVIPRIDSQL VEKLGQRLLP WMDRLSSEQL NPSVFVGLRL 60
SSMQAGTKED LYLHSLKIHY QQCLLRSTSS DDNSSCQPKL SGGSLALYLL ALRANCEFFG 120
SRKGDRLISQ LKWFLEDEKK AIGHNHEGHP NTNYYQYGLS ILALCVHQKR LHDSVVGKLL 180
YAVEHDYFTY QGHVSVDTEA MAGLALTCLE RFNFNSDLRP RITMAIETVR EKILKSQAPE 240
GYFGNIYSTP LALQMLMTSP ASGVGLGTAC IKAGTSLLLS LQDGAFQNPL MISQLLPILN 300
HKTYLDLIFP DCQASRVMLV PAVEDPVHIS EVISVTLKVA SALSPYEQTF FVFAGSSLED 360
VLKLAQDGGG FTYGTQASLS GPYLTSVLGK DAGDREYWQL LRAPDTPLLQ GIADYKPQDG 420
ETIELRLVRW

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTCN2281518Q9XSC9Bos taurusPredictionMore>>
1:1 orthologTCN2486355E2RFH1Canis lupus familiarisPredictionMore>>
1:1 orthologTCN2102190723A0A452DSJ0Capra hircusPredictionMore>>
1:1 orthologTCN2100063639F6U5V3Equus caballusPredictionMore>>
1:1 orthologTCN26948P20062Homo sapiensPublicationMore>>
1:1 orthologTcn221452O88968Mus musculusPredictionMore>>
1:1 orthologTCN2470178H2QLH6Pan troglodytesPredictionMore>>
1:1 orthologTCN2100152846F1RPE4Sus scrofaPredictionMore>>
1:1 orthologTcn264365G3V6K1Rattus norvegicusPredictionMore>>
1:1 orthologtcn2407646F2Z4S3Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
TCN2rs1801198; c.667C>G (protective)Genotyping31663440
TCN2c.776C>G; p.Pro259ArgGenotyping; TDT16470748

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0031419 cobalamin bindingISS
GO:0031419 cobalamin bindingISO
GO:0046872 metal ion bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0006824 cobalt ion transportIEA
GO:0015889 cobalamin transportISS
GO:0015889 cobalamin transportISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005615 extracellular spaceISS
GO:0005615 extracellular spaceISO
GO:0005615 extracellular spaceHDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-196741 Cobalamin (Cbl, vitamin B12) transport and metabolismIEA
R-MMU-196849 Metabolism of water-soluble vitamins and cofactorsIEA
R-MMU-196854 Metabolism of vitamins and cofactorsIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0170 Cobalt
KW-0171 Cobalt transport
KW-1015 Disulfide bond
KW-0406 Ion transport
KW-0479 Metal-binding
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal
KW-0813 Transport

Interpro

InterPro ID InterPro Term
IPR002157 Cbl-bd_prot
IPR027954 DUF4430

PROSITE

PROSITE ID PROSITE Term
PS00468 COBALAMIN_BINDING

Pfam

Pfam ID Pfam Term
PF01122 Cobalamin_bind
PF14478 DUF4430