1. Gene
  2. SMYD2 - SET and MYND domain containing 2 Gene

SMYD2 - SET and MYND domain containing 2 Gene

中文名称:含 SET 和 MYND 域 2

种属: Homo sapiens

同用名: KMT3C; HSKM-B; ZMYND14

基因 ID: 56950 | 基因类型: protein coding

关于 SMYD2

Cytogenetic location: 1q32.3 Genomic coordinates (GRCh38): 1:214,281,159-214,337,131 (from NCBI)

This gene has 6 transcripts (splice variants), 229 orthologues and 5 paralogues. Broad expression in heart (RPKM 86.3), testis (RPKM 19.8) and 22 other tissues.

功能概要

含有 SET 结构域的蛋白质,例如 SMYD2,催化赖氨酸甲基化 (Brown 等人,2006 [PubMed 16805913]) 。[OMIM 提供,2008 年 11 月]

SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]

SMYD2 基因产物(3)

mRNA Protein Name
XM_047425700.1 XP_047281656.1 N-lysine methyltransferase SMYD2 isoform X1
NM_020197.3 NP_064582.2 N-lysine methyltransferase SMYD2
XM_047425702.1 XP_047281658.1 N-lysine methyltransferase SMYD2 isoform X2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables p53 binding IPI
IPI: 通过物理相互作用推断
17108971 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17805299 GOA
enables protein-lysine N-methyltransferase activity IDA
IDA: 通过直接分析推断
17108971 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
17108971 GOA
involved in peptidyl-lysine monomethylation IDA
IDA: 通过直接分析推断
17108971 GOA
involved in regulation of DNA damage response, signal transduction by p53 class mediator IMP
IMP: 通过突变表型推断
17108971 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
24880080 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

SMYD2 蛋白结构

SET

SET: SET domain (18 - 240)

zf-MYND

zf-MYND: MYND finger (52 - 90)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 433 a.a.
蛋白主名 其他名称

N-lysine methyltransferase SMYD2

SET and MYND domain-containing protein 2

histone methyltransferase SMYD2

lysine N-methyltransferase 3C

zinc finger, MYND domain containing 14

重组 SMYD2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76079 SMYD2 Protein, Human (sf9, His) Q9NRG4-1 (M1-H433) ≥95%

关联疾病

疾病名称 别名
Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

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
Canis familiaris SMYD2 VGNC VGNC:53836
Macaca mulatta SMYD2 VGNC VGNC:77750
Felis catus SMYD2 VGNC VGNC:97638
Rattus norvegicus SMYD2 RGD RGD:727785
Bos taurus SMYD2 VGNC VGNC:35043
Mus musculus SMYD2 MGD MGI:1915889
Others SMYD2 NCBI