Results for the protein: Q8IXK2

Results for the Protein: Q8IXK2

84028209

79695

GALNT12

NCBI, UniProt

GLT12_HUMAN RecName: Full=Polypeptide N-acetylgalactosaminyltransferase 12; AltName: Full=Polypeptide GalNAc transferase 12; Short=GalNAc-T12; Short=pp-GaNTase 12; AltName: Full=Protein-UDP acetylgalactosaminyltransferase 12; AltName: Full=UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12

Known Diseases associated with this Protein:
COLORECTAL CANCER 1 (CRCS1)
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1

10

6

2

1

13

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: WcaA - COG0463 COG1216 - COG1216 GT2_RfbC_Mx_like - cd04184 Succinoglycan_BP_Exo - cd02525 pp-GalNAc-T - cd02510 Glycos_transf_2 - pfam00535 CESA_like - cd06423 DPM_DPG-synthase_lik - cd04179 GT_2_like_c - cd04186 Glyco_tranf_GTA_type - cd00761 Ricin_B_lectin - pfam00652 RICIN - cd00161 RICIN - smart00458	Swiss-Prot Protein: Q8IXK2 Identical to: NP_078918 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG1216	COG1216	0.00021	134	440
GT2_RfbC_Mx_like	cd04184	1.9e-05	136	298
Succinoglycan_BP_Exo	cd02525	0.00045	137	316
pp-GalNAc-T	cd02510	2.9e-184	139	433
Glyco_tranf_GTA_type	cd00761	1.1e-21	140	356
DPM_DPG-synthase_lik	cd04179	0.00033	140	338
GT_2_like_c	cd04186	5.7e-06	140	365
CESA_like	cd06423	0.00039	140	339
RICIN	cd00161	2.5e-30	447	576
Glycos_transf_2	pfam00535	1.8e-35	139	322
Ricin_B_lectin	pfam00652	1.3e-25	445	574
RICIN	smart00458	9.3e-17	450	577

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_064360	Disease	p.ARG373HIS	Colorectal cancer 1 (CRCS1)
Swiss-Prot	VAR_064361	Disease	p.ARG382HIS	Colorectal cancer 1 (CRCS1)
Swiss-Prot	VAR_064364	Polymorphism	p.ARG552LYS	N/A
Swiss-Prot	VAR_064357	Disease	p.ARG297TRP	Colorectal cancer 1 (CRCS1)
Swiss-Prot	VAR_064355	Polymorphism	p.ASP261ASN	N/A
Swiss-Prot	VAR_064358	Disease	p.ASP303ASN	Colorectal cancer 1 (CRCS1)
Swiss-Prot	VAR_064362	Disease	p.CYS479PHE	Colorectal cancer 1 (CRCS1)
Swiss-Prot	VAR_064359	Disease	p.GLU341ASP	Colorectal cancer 1 (CRCS1)
dbSNP	rs1137654	Polymorphism	p.GLU119VAL	N/A
Swiss-Prot	VAR_064356	Polymorphism	p.GLY272ARG	N/A
Swiss-Prot	VAR_064353	Polymorphism	p.GLY46ARG	N/A
Swiss-Prot	VAR_064352	Polymorphism	p.GLY3GLU	N/A
Swiss-Prot	VAR_064363	Disease	p.THR491MET	Colorectal cancer 1 (CRCS1)
Swiss-Prot	VAR_068509	Disease	p.TYR396CYS	Colorectal cancer 1 (CRCS1)
OMIM	610290.0002	Disease	p.THR491MET	COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
OMIM	610290.0003	Disease	p.TYR395TER	COLORECTAL CANCER, SUSCEPTIBILITY TO, 1

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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