GALNT12 - polypeptide N-acetylgalactosaminyltransferase 12 Gene

Also Known as CRCS1; GalNAc-T12

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79695

About GALNT12

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:98,807,670-98,850,081 (from NCBI)

This gene has 4 transcripts (splice variants), 218 orthologues, 19 paralogues and is associated with 1 phenotype. Biased expression in colon (RPKM 24.5), stomach (RPKM 17.8) and 12 other tissues.

Summary

This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal Cancer.[provided by RefSeq, Mar 2011]

GALNT12 Products (1)

mRNA Protein Name
NM_024642.5 NP_078918.3 polypeptide N-acetylgalactosaminyltransferase 12
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GALNT12 Protein Structure

Glycos_transf_2

Glycos_transf_2: Glycosyl transferase family 2 (139 - 322)

Ricin_B_lectin

Ricin_B_lectin: Ricin-type beta-trefoil lectin domain (447 - 574)

  • 0
  • 100
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  • 500
  • 581 a.a.
Protein Preferred Names Protein Names

polypeptide N-acetylgalactosaminyltransferase 12

  • UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12

Related Diseases

Diseases Alias
Colorectal Cancer 1
  • Colorectal Cancer, Susceptibility To, 1

  • CRCS1

  • Colorectal Cancer On Chromosome 9

  • Colorectal Cancer, Susceptibility To, On Chromosome 9

  • Colorectal Adenoma And Cancer

  • Colorectal Adenoma And Cancer, Susceptibility To

  • Susceptibility To Colorectal Adenoma And Cancer

  • Susceptibility To Colorectal Cancer On Chromosome 9

  • Cancer, Colorectal, Susceptibility To, Type 1

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Tn Polyagglutination Syndrome
  • Galactosyltransferase Deficiency

  • Tn Syndrome

  • TNPS

  • Tn Polyagglutination Syndrome, Somatic

Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
  • Hyperphosphatemic Familial Tumoral Calcinosis

  • Hftc

  • Hyperostosis-Hyperphosphatemia Syndrome

  • Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome

  • Tumoral Calcinosis, Hyperphosphatemic, Familial

  • Phptc

  • Lipocalcinogranulomatosis

  • Morbus Teutschlaender

  • Hhs

  • Hyperostosis With Hyperphosphatemia

  • Cortical Hyperostosis With Hyperphosphatemia

  • Primary Hyperphosphatemic Tumoral Calcinosis

  • Familial Tumoral Calcinosis

  • HFTC1

  • Hypercalcemic Tumoral Calcinosis

  • Hyperphosphatemia Hyperostosis

  • Hyperphosphatemia Hyperostosis Syndrome

  • Hyperphosphatemia Tumoral Calcinosis

  • Tumoral Calcinosis

  • Calcinosis, Tumoral, With Hyperphosphatemia

  • Tumoral Calcinosis, Primary Hyperphosphatemic

  • Teutschlaender Disease, Familial

  • Familial Teutschlaender Disease

  • Tumoral Calcinosis With Hyperphosphatemia

  • Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

  • Ftc/Hhs

  • Familial Tumoral Calcinosis With Hyperphosphatemia

  • Teutschlaender Disease

  • Tumoral Calcinosis Primary Hyperphosphatemic

  • Calcinosis, Tumoral, Hyperphosphatemic, Familial

Breast Mucinous Carcinoma
  • Mucinous Carcinoma Of Breast

  • Invasive Mucinous Breast Carcinoma

Familial Adenomatous Polyposis 2
  • Mutyh-Related Attenuated Familial Adenomatous Polyposis

  • FAP2

  • Colorectal Adenomatous Polyposis, Autosomal Recessive

  • Adenomas, Multiple Colorectal

  • Mutyh-Associated Polyposis

  • Mutyh-Related Attenuated Familial Polyposis Coli

  • Mutyh-Related Attenuated Fap

  • Adenomas, Multiple Colorectal, Autosomal Recessive

  • Mutyh-Related Afap

  • Adenomas Multiple Colorectal Autosomal Recessive

  • Colorectal Adenomatous Polyposis Autosomal Recessive

  • Adenomatous Polyposis, Familial, Type 2

Lynch Syndrome
  • Hereditary Nonpolyposis Colon Cancer

  • Hereditary Nonpolyposis Colorectal Cancer

  • Hereditary Nonpolyposis Colorectal Carcinoma

  • Hereditary Nonpolyposis Colorectal Neoplasms

  • Familial Nonpolyposis Colon Cancer

  • Hnpcc

  • Coca 1

  • Hereditary Defective Mismatch Repair Syndrome

  • Hereditary Non-Polyposis Colon Cancer

  • Hereditary Non-Polyposis Colon Cancer Syndrome

  • Hereditary Non-Polyposis Colorectal Cancer

  • Hereditary Non-Polyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colon Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Neoplasm

  • Hnpcc - Hereditary Nonpolyposis Colon Cancer

  • Cancer Family Syndrome

  • Familial Nonpolyposis Colorectal Cancer

  • Colon Cancer, Familial Nonpolyposis

  • Colorectal Neoplasms, Hereditary Nonpolyposis

  • Cancer, Colorectal, Nonpolyposis, Hereditary

  • Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus GALNT12 RGD RGD:1562001
Mus musculus GALNT12 MGD MGI:2444664
Canis familiaris GALNT12 VGNC VGNC:41087
Macaca mulatta GALNT12 VGNC VGNC:72750
Felis catus GALNT12 VGNC VGNC:62444
Bos taurus GALNT12 VGNC VGNC:29225
Others GALNT12 NCBI