1. Gene
  2. GALNT12 - polypeptide N-acetylgalactosaminyltransferase 12 Gene

GALNT12 - polypeptide N-acetylgalactosaminyltransferase 12 Gene

中文名称:多肽 N-乙酰半乳糖氨基转移酶 12

种属: Homo sapiens

同用名: CRCS1; GalNAc-T12

基因 ID: 79695 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 UDP-GalNAc 家族的成员:多肽 N-乙酰半乳糖氨基转移酶,在 O-连接的蛋白质糖基化。该基因的突变与结直肠癌易感性增加有关。[RefSeq 提供,2011 年 3 月]

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 基因产物(1)

mRNA Protein Name
NM_024642.5 NP_078918.3 polypeptide N-acetylgalactosaminyltransferase 12
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

GALNT12 蛋白结构

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)

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  • 581 a.a.
蛋白主名 其他名称

polypeptide N-acetylgalactosaminyltransferase 12

UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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