Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6948
Gene name	Transcobalamin 2
Gene symbol	TCN2
Synonyms (NCBI Gene)	D22S676D22S750IITCTC IITC-2TC2TCII
Chromosome	22
Chromosome location	22q12.2
Summary	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

Show/Hide all (12)

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
rs1057520098	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1157135425	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1456983114	C>T	Uncertain-significance, pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1461973241	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555895066	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555895069	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602043738	->CCTCCTA	Pathogenic	Coding sequence variant, frameshift variant

217

Show/Hide all (217)

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
MIRT621452	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT621451	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT639820	hsa-miR-186-3p	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
MIRT639819	hsa-miR-6778-3p	HITS-CLIP	23824327
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
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
MIRT532707	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT532695	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT532706	hsa-miR-6514-5p	PAR-CLIP	21572407
MIRT532705	hsa-miR-4735-5p	PAR-CLIP	21572407
MIRT532704	hsa-miR-1273f	PAR-CLIP	21572407
MIRT532703	hsa-miR-4534	PAR-CLIP	21572407
MIRT532702	hsa-miR-8082	PAR-CLIP	21572407
MIRT532701	hsa-miR-4653-3p	PAR-CLIP	21572407
MIRT532700	hsa-miR-6832-5p	PAR-CLIP	21572407
MIRT532699	hsa-miR-19a-5p	PAR-CLIP	21572407
MIRT532698	hsa-miR-19b-1-5p	PAR-CLIP	21572407
MIRT532697	hsa-miR-19b-2-5p	PAR-CLIP	21572407
MIRT532696	hsa-miR-4775	PAR-CLIP	21572407
MIRT532695	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT532694	hsa-miR-5590-5p	PAR-CLIP	21572407
MIRT532693	hsa-miR-4659a-5p	PAR-CLIP	21572407
MIRT532692	hsa-miR-4659b-5p	PAR-CLIP	21572407
MIRT532691	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT532690	hsa-miR-3149	PAR-CLIP	21572407
MIRT532707	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT532695	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532706	hsa-miR-6514-5p	PAR-CLIP	22012620
MIRT532705	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT532704	hsa-miR-1273f	PAR-CLIP	22012620
MIRT532703	hsa-miR-4534	PAR-CLIP	22012620
MIRT532702	hsa-miR-8082	PAR-CLIP	22012620
MIRT532701	hsa-miR-4653-3p	PAR-CLIP	22012620
MIRT532700	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT532699	hsa-miR-19a-5p	PAR-CLIP	22012620
MIRT532698	hsa-miR-19b-1-5p	PAR-CLIP	22012620
MIRT532697	hsa-miR-19b-2-5p	PAR-CLIP	22012620
MIRT532696	hsa-miR-4775	PAR-CLIP	22012620
MIRT532695	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532694	hsa-miR-5590-5p	PAR-CLIP	22012620
MIRT532693	hsa-miR-4659a-5p	PAR-CLIP	22012620
MIRT532692	hsa-miR-4659b-5p	PAR-CLIP	22012620
MIRT532691	hsa-miR-4776-3p	PAR-CLIP	22012620
MIRT532690	hsa-miR-3149	PAR-CLIP	22012620
MIRT448110	hsa-miR-6873-5p	PAR-CLIP	22100165
MIRT448108	hsa-miR-4419a	PAR-CLIP	22100165
MIRT448109	hsa-miR-4510	PAR-CLIP	22100165
MIRT448107	hsa-miR-6127	PAR-CLIP	22100165
MIRT448106	hsa-miR-6129	PAR-CLIP	22100165
MIRT448105	hsa-miR-6130	PAR-CLIP	22100165
MIRT448104	hsa-miR-6133	PAR-CLIP	22100165
MIRT448103	hsa-miR-4300	PAR-CLIP	22100165
MIRT448102	hsa-miR-5591-5p	PAR-CLIP	22100165
MIRT448101	hsa-miR-6726-5p	PAR-CLIP	22100165
MIRT448100	hsa-miR-920	PAR-CLIP	22100165
MIRT448099	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT448098	hsa-miR-203b-3p	PAR-CLIP	22100165
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
MIRT621452	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT621451	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT639820	hsa-miR-186-3p	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
MIRT639819	hsa-miR-6778-3p	HITS-CLIP	23824327
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
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
MIRT532707	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT532695	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT532706	hsa-miR-6514-5p	PAR-CLIP	21572407
MIRT532705	hsa-miR-4735-5p	PAR-CLIP	21572407
MIRT532704	hsa-miR-1273f	PAR-CLIP	21572407
MIRT532703	hsa-miR-4534	PAR-CLIP	21572407
MIRT532702	hsa-miR-8082	PAR-CLIP	21572407
MIRT532701	hsa-miR-4653-3p	PAR-CLIP	21572407
MIRT532700	hsa-miR-6832-5p	PAR-CLIP	21572407
MIRT532699	hsa-miR-19a-5p	PAR-CLIP	21572407
MIRT532698	hsa-miR-19b-1-5p	PAR-CLIP	21572407
MIRT532697	hsa-miR-19b-2-5p	PAR-CLIP	21572407
MIRT532696	hsa-miR-4775	PAR-CLIP	21572407
MIRT532695	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT532694	hsa-miR-5590-5p	PAR-CLIP	21572407
MIRT532693	hsa-miR-4659a-5p	PAR-CLIP	21572407
MIRT532692	hsa-miR-4659b-5p	PAR-CLIP	21572407
MIRT532691	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT532690	hsa-miR-3149	PAR-CLIP	21572407
MIRT532707	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT532695	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532706	hsa-miR-6514-5p	PAR-CLIP	22012620
MIRT532705	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT532704	hsa-miR-1273f	PAR-CLIP	22012620
MIRT532703	hsa-miR-4534	PAR-CLIP	22012620
MIRT532702	hsa-miR-8082	PAR-CLIP	22012620
MIRT532701	hsa-miR-4653-3p	PAR-CLIP	22012620
MIRT532700	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT532699	hsa-miR-19a-5p	PAR-CLIP	22012620
MIRT532698	hsa-miR-19b-1-5p	PAR-CLIP	22012620
MIRT532697	hsa-miR-19b-2-5p	PAR-CLIP	22012620
MIRT532696	hsa-miR-4775	PAR-CLIP	22012620
MIRT532695	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532694	hsa-miR-5590-5p	PAR-CLIP	22012620
MIRT532693	hsa-miR-4659a-5p	PAR-CLIP	22012620
MIRT532692	hsa-miR-4659b-5p	PAR-CLIP	22012620
MIRT532691	hsa-miR-4776-3p	PAR-CLIP	22012620
MIRT532690	hsa-miR-3149	PAR-CLIP	22012620
MIRT448110	hsa-miR-6873-5p	PAR-CLIP	22100165
MIRT448108	hsa-miR-4419a	PAR-CLIP	22100165
MIRT448109	hsa-miR-4510	PAR-CLIP	22100165
MIRT448107	hsa-miR-6127	PAR-CLIP	22100165
MIRT448106	hsa-miR-6129	PAR-CLIP	22100165
MIRT448105	hsa-miR-6130	PAR-CLIP	22100165
MIRT448104	hsa-miR-6133	PAR-CLIP	22100165
MIRT448103	hsa-miR-4300	PAR-CLIP	22100165
MIRT448102	hsa-miR-5591-5p	PAR-CLIP	22100165
MIRT448101	hsa-miR-6726-5p	PAR-CLIP	22100165
MIRT448100	hsa-miR-920	PAR-CLIP	22100165
MIRT448099	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT448098	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT2640342	hsa-miR-103b	CLIP-seq
MIRT2640343	hsa-miR-1234	CLIP-seq
MIRT2640344	hsa-miR-1245b-5p	CLIP-seq
MIRT2640345	hsa-miR-1248	CLIP-seq
MIRT2640346	hsa-miR-1286	CLIP-seq
MIRT2640347	hsa-miR-129-5p	CLIP-seq
MIRT2640348	hsa-miR-140-3p	CLIP-seq
MIRT2640349	hsa-miR-1468	CLIP-seq
MIRT2640350	hsa-miR-185	CLIP-seq
MIRT2640351	hsa-miR-3127-5p	CLIP-seq
MIRT2640352	hsa-miR-3142	CLIP-seq
MIRT2640353	hsa-miR-3150b-3p	CLIP-seq
MIRT2640354	hsa-miR-3545-5p	CLIP-seq
MIRT2640355	hsa-miR-3651	CLIP-seq
MIRT2640356	hsa-miR-3918	CLIP-seq
MIRT2640357	hsa-miR-3943	CLIP-seq
MIRT2640358	hsa-miR-412	CLIP-seq
MIRT2640359	hsa-miR-4252	CLIP-seq
MIRT2640360	hsa-miR-4306	CLIP-seq
MIRT2640361	hsa-miR-4323	CLIP-seq
MIRT2640362	hsa-miR-4487	CLIP-seq
MIRT2640363	hsa-miR-4644	CLIP-seq
MIRT2640364	hsa-miR-4656	CLIP-seq
MIRT2640365	hsa-miR-4689	CLIP-seq
MIRT2640366	hsa-miR-4695-5p	CLIP-seq
MIRT2640367	hsa-miR-4722-5p	CLIP-seq
MIRT2640368	hsa-miR-4731-5p	CLIP-seq
MIRT2640369	hsa-miR-4754	CLIP-seq
MIRT2640370	hsa-miR-4784	CLIP-seq
MIRT2640371	hsa-miR-513b	CLIP-seq
MIRT2640372	hsa-miR-615-5p	CLIP-seq
MIRT2640373	hsa-miR-759	CLIP-seq
MIRT2640374	hsa-miR-922	CLIP-seq
MIRT2640342	hsa-miR-103b	CLIP-seq
MIRT2640343	hsa-miR-1234	CLIP-seq
MIRT2640344	hsa-miR-1245b-5p	CLIP-seq
MIRT2640345	hsa-miR-1248	CLIP-seq
MIRT2640346	hsa-miR-1286	CLIP-seq
MIRT2640347	hsa-miR-129-5p	CLIP-seq
MIRT2640348	hsa-miR-140-3p	CLIP-seq
MIRT2692841	hsa-miR-143	CLIP-seq
MIRT2640349	hsa-miR-1468	CLIP-seq
MIRT2640350	hsa-miR-185	CLIP-seq
MIRT2640351	hsa-miR-3127-5p	CLIP-seq
MIRT2640352	hsa-miR-3142	CLIP-seq
MIRT2640353	hsa-miR-3150b-3p	CLIP-seq
MIRT2640354	hsa-miR-3545-5p	CLIP-seq
MIRT2640355	hsa-miR-3651	CLIP-seq
MIRT2640356	hsa-miR-3918	CLIP-seq
MIRT2640357	hsa-miR-3943	CLIP-seq
MIRT2640358	hsa-miR-412	CLIP-seq
MIRT2692842	hsa-miR-4251	CLIP-seq
MIRT2640359	hsa-miR-4252	CLIP-seq
MIRT2692843	hsa-miR-4294	CLIP-seq
MIRT2640360	hsa-miR-4306	CLIP-seq
MIRT2640361	hsa-miR-4323	CLIP-seq
MIRT2692844	hsa-miR-4329	CLIP-seq
MIRT2692845	hsa-miR-4480	CLIP-seq
MIRT2640362	hsa-miR-4487	CLIP-seq
MIRT2640363	hsa-miR-4644	CLIP-seq
MIRT2640364	hsa-miR-4656	CLIP-seq
MIRT2640365	hsa-miR-4689	CLIP-seq
MIRT2640366	hsa-miR-4695-5p	CLIP-seq
MIRT2692846	hsa-miR-4708-5p	CLIP-seq
MIRT2640367	hsa-miR-4722-5p	CLIP-seq
MIRT2640368	hsa-miR-4731-5p	CLIP-seq
MIRT2640369	hsa-miR-4754	CLIP-seq
MIRT2692847	hsa-miR-4770	CLIP-seq
MIRT2640370	hsa-miR-4784	CLIP-seq
MIRT2640371	hsa-miR-513b	CLIP-seq
MIRT2640372	hsa-miR-615-5p	CLIP-seq
MIRT2640373	hsa-miR-759	CLIP-seq
MIRT2640374	hsa-miR-922	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
SP1	Unknown	9774437
SP3	Unknown	9774437
USF1	Unknown	9774437
USF2	Unknown	9774437

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27411955
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	8443384
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	1708393
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006824	Process	Cobalt ion transport	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0015889	Process	Cobalamin transport	IBA
GO:0015889	Process	Cobalamin transport	IDA	8443384
GO:0015889	Process	Cobalamin transport	IEA
GO:0015889	Process	Cobalamin transport	TAS	3782074
GO:0031419	Function	Cobalamin binding	IBA
GO:0031419	Function	Cobalamin binding	IDA	8443384, 16537422, 27411955
GO:0031419	Function	Cobalamin binding	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0140104	Function	Molecular carrier activity	IEA
GO:0140355	Function	Cargo receptor ligand activity	EXP	3782074
GO:0140355	Function	Cargo receptor ligand activity	IEA

MIM	HGNC	e!Ensembl
613441	11653	ENSG00000185339

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

MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRL
SSLQAGTKEDLYLHSLKLGYQQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANCEFVR
GHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLGILALCLHQKRVHDSVVDKLL
YAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGRRQRITMAIRTVREEILKAQTPEGHF
GNVYSTPLALQFLMTSPMRGAELGTACLKARVALLASLQDGAFQNALMISQLLPVLNHKT
YIDLIFPDCLAPRVMLEPAAETIPQTQEIISVTLQVLSLLPPYRQSISVLAGSTVEDVLK
KAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLRDPNTPLLQGIADYRPKDGETI
ELRLVSW

Sequence length

427

Interactions

View interactions

	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

678

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pancytopenia	Likely pathogenic; Pathogenic	rs2087581122	RCV001730751
TCN2-related disorder	Likely pathogenic; Pathogenic	rs2517903551, rs1198019350	RCV003400105 RCV003909040
Transcobalamin II deficiency	Likely pathogenic; Pathogenic	rs2145536487, rs2145536721, rs771755125, rs2145545140, rs766478911, rs1157135425, rs606231119, rs372866837, rs2145548128, rs747615809, rs747257199, rs1252562083, rs2517908566, rs2517903551, rs2517912426 View all (32 more)	RCV001378425 RCV001542703 RCV001806355 RCV001901214 RCV001863330 RCV000000116 RCV000000118 RCV000000120 RCV003598065 RCV003598143 RCV003064652 RCV002611505 RCV003153007 RCV003495335 RCV003496105 RCV003496074 RCV003496302 RCV003496937 RCV003497066 RCV003494766 RCV003494767 RCV003495044 RCV003495667 RCV003598411 RCV003598913 RCV003598983 RCV003599017 RCV003599512 RCV003599640 RCV003599765 RCV003597662 RCV003597750 RCV003597933 RCV003598498 RCV003843073 RCV003766185 RCV000779371 RCV000537950 RCV005056230 RCV000815743 RCV000990420 RCV001041864 RCV001070797 RCV001055147 RCV001070249 RCV001035380 RCV001078181 RCV001212472

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs16988828	RCV005924877
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs9606756	RCV005897544
Cholangiocarcinoma	Benign; Likely benign	rs16988828, rs9606756	RCV005924879 RCV005897547
Gastric cancer	Likely benign	rs200303429	RCV005907386
Lung cancer	Benign	rs16988828	RCV005924880
Malignant tumor of esophagus	Likely benign	rs200303429	RCV005907385
Melanoma	Uncertain significance	rs201392026	RCV005900155
Nonpapillary renal cell carcinoma	Uncertain significance	rs201392026	RCV005900154
TCN2 POLYMORPHISM	Benign	rs1801198	RCV000000117
Thymoma	Benign	rs16988828	RCV005924878
Uterine carcinosarcoma	Benign; Likely benign	rs9606756	RCV005897546
Uveal melanoma	Benign; Likely benign	rs9606756	RCV005897545

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Conotruncal cardiac defects	Associate	36672920
COVID 19	Associate	36146713
Demyelinating Autoimmune Diseases CNS	Associate	19353223
Diabetes Mellitus	Associate	32794382
Diabetes Mellitus Type 2	Associate	32794382
Down Syndrome	Associate	19274320, 22377700
Epileptic Encephalopathy Early Infantile 3	Associate	37800653
Hemolysis	Associate	35488219
Hypertension	Associate	31815282
Hypoproteinemia	Associate	36275653
Hypoxia	Associate	28874504
Immune System Diseases	Associate	33023511
Inflammatory Bowel Diseases	Associate	39589317
Intestinal Diseases	Associate	14689755
Leukemia	Associate	2169922, 8978297
Lupus Vasculitis Central Nervous System	Associate	37684700
Lymphoma	Associate	23099805
Mesothelioma	Associate	19546821
Methylmalonic Aciduria and Homocystinuria CblF Type	Associate	28975627, 8978297
Mouth Neoplasms	Associate	28155977
Multiple Myeloma	Associate	7742531
Multiple Sclerosis	Associate	21067621
Neoplasms	Associate	28155977, 28874504
Nervous System Diseases	Associate	27733392
Neural Tube Defects	Associate	14689755
Neurologic Manifestations	Associate	14689755, 37800653
Neurotoxicity Syndromes	Associate	23099805
Obesity	Associate	32794382
Opioid Related Disorders	Associate	28975627
Orofacial Cleft 1	Associate	26963196
Peripheral Nervous System Diseases	Associate	27733392
Premature Birth	Inhibit	32720760
Premature Birth	Associate	32720760, 34907829
Prickle1 Related Progressive Myoclonic Epilepsy with Ataxia	Associate	37800653
Respiratory Syncytial Virus Infections	Associate	39313785
Severe Combined Immunodeficiency	Associate	33023511
Stroke	Associate	21975197
Tuberculosis Pulmonary	Associate	36275653
Vitamin B 12 Deficiency	Associate	12091374, 14689755, 30761942

TCN2 (transcobalamin 2)