1. Gene
  2. DONSON - DNA replication fork stabilization factor DONSON Gene

DONSON - DNA replication fork stabilization factor DONSON Gene

中文名称:DNA 复制叉稳定因子 DONSON

种属: Homo sapiens

同用名: B17; MIMIS; MISSLA; C21orf60

基因 ID: 29980 | 基因类型: protein coding

关于 DONSON

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:33,577,551-33,588,684 (from NCBI)

This gene has 13 transcripts (splice variants), 209 orthologues and is associated with 4 phenotypes. Broad expression in testis (RPKM 22.3), urinary bladder (RPKM 14.4) and 23 other tissues.

功能概要

该基因位于 SON 基因的下游,在 21 号染色体上跨越 10 kb。该基因的功能未知。[RefSeq 提供,2008 年 7 月]

This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]

DONSON 基因产物(1)

mRNA Protein Name
NM_017613.4 NP_060083.1 protein downstream neighbor of Son
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 protein binding IPI
IPI: 通过物理相互作用推断
28191891 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage checkpoint signaling IMP
IMP: 通过突变表型推断
28191891 GOA
involved in DNA replication IMP
IMP: 通过突变表型推断
28191891 GOA
involved in mitotic DNA replication checkpoint signaling IMP
IMP: 通过突变表型推断
28191891 GOA
involved in mitotic G2 DNA damage checkpoint signaling IMP
IMP: 通过突变表型推断
28191891 GOA
involved in replication fork processing IMP
IMP: 通过突变表型推断
28191891 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
28191891 GOA
located in replication fork IDA
IDA: 通过直接分析推断
28191891 GOA
part of replisome IDA
IDA: 通过直接分析推断
28191891 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
蛋白主名 其他名称

protein downstream neighbor of Son

downstream neighbor of SON

DONSON 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
DONSON Q9NYP3 MCM2 Homo sapiens P49736 32769987
种属内
DONSON Q9NYP3 MCM2 Homo sapiens P49736 32769987
种属内
DONSON Q9NYP3 GINS1 Homo sapiens Q14691 32769987
种属内
DONSON Q9NYP3 GINS1 Homo sapiens Q14691 32769987
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Microcephaly, Short Stature, And Limb Abnormalities

MISSLA

Microcephaly-Short Stature-Limb Abnormalities Syndrome

Microcephaly, Short Stature, Limb Abnormalities

Microcephaly-Micromelia Syndrome

MIMIS

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1

Meier-Gorlin Syndrome 5

MGORS5

Meier-Gorlin Syndrome, Type 5

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome

IMAGE

Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

Image Anomaly

Image Association

Fetal Growth Retardation

Pyle Metaphyseal Dysplasia

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Felis catus DONSON VGNC VGNC:96918
Macaca mulatta DONSON VGNC VGNC:103810
Bos taurus DONSON VGNC VGNC:56216
Rattus norvegicus DONSON RGD RGD:1306823
Mus musculus DONSON MGD MGI:1890621