DNAJC21 - DnaJ heat shock protein family (Hsp40) member C21 Gene

中文名称：DnaJ 热休克蛋白家族 (Hsp40) 成员 C21

种属: Homo sapiens

同用名: GS3; JJJ1; BMFS3; DNAJA5

基因 ID: 134218 | 基因类型: protein coding

关于 DNAJC21

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:34,929,559-34,958,964 (from NCBI)

This gene has 15 transcripts (splice variants), 223 orthologues, 20 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 12.7), placenta (RPKM 6.0) and 25 other tissues.

功能概要

该基因编码 DNAJ 热休克蛋白 40 蛋白家族的成员，其特征在于两个 N 末端四肽重复结构域和一个 C 末端 DNAJ 结构域。该蛋白结合前体 45S 核糖体 RNA，可能参与早期核糖体 RNA 的生物发生和 60S 核糖体亚基的成熟。该基因的突变导致骨髓衰竭综合征 3。可变剪接导致编码不同亚型的多个转录物变体。[RefSeq 提供，2017 年 2 月]

This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]

DNAJC21 基因产物(3)

mRNA	Protein	Name
NM_001012339.3	NP_001012339.2	dnaJ homolog subfamily C member 21 isoform 2
NM_001348420.2	NP_001335349.1	dnaJ homolog subfamily C member 21 isoform 3
NM_194283.4	NP_919259.3	dnaJ homolog subfamily C member 21 isoform 1

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	17500595	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

DNAJC21 蛋白结构

DnaJ

zf-C2H2_jaz

zf-C2H2_2

0
100
200
300
400
500
531 a.a.

蛋白主名

其他名称

dnaJ homolog subfamily C member 21

DnaJ (Hsp40) homolog, subfamily C, member 21

关联疾病

疾病名称

别名

Bone Marrow Failure Syndrome 3

BMFS3

Inherited Bone Marrow Failure Syndromes

Inherited Bone Marrow Failure Syndrome

Bmfs

Pancytopenia

Tongue Disease

Abnormality Of The Tongue	Tongue Diseases
Tongue Disorders	Disorder Of Tongue
Glossopathy	Unspecified Condition Of The Tongue

Pectus Excavatum

Funnel Chest

Congenital Pectus Excavatum

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome	Shwachman Syndrome
Shwachman-Bodian-Diamond Syndrome	Sds
Pancreatic Insufficiency And Bone Marrow Dysfunction	Shwachman-Bodian Syndrome
SDS1	Lipomatosis Of Pancreas, Congenital
Congenital Lipomatosis Of Pancreas	Shwachman-Diamond Type Metaphyseal Dysplasia
Metaphyseal Chondrodysplasia, Shwachman Type	Shwachman-Diamond-Oski Syndrome

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Severe Congenital Neutropenia 8

Autosomal Dominant Severe Congenital Neutropenia 8 With Or Without Pancreatic Dysfunction And/Or Neurological Abnormalities	Scn8
Sdsl	Shwachman-Diamond Syndrome-Like

Severe Congenital Neutropenia 7

Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency

Scn7

Hemophagocytic Lymphohistiocytosis, Familial, 3

Familial Hemophagocytic Lymphohistiocytosis 3	FHL3
Hplh3	Hlh3
Lymphohistiocytosis, Hemophagocytic, Familial, Type 3

Spondylometaphyseal Dysplasia, Corner Fracture Type

SMDCF	Spondylometaphyseal Dysplasia, Sutcliffe Type
Spondylometaphyseal Dysplasia Corner Fracture Type	Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Spondylometaphyseal Dysplasia Sutcliffe Type	Sutcliffe Type Of Spondylometaphyseal Dysplasia
Spondylometaphyseal Dysplasia - Sutcliffe Type	Smd, Corner Fractures Type
Smd, Sutcliffe Type	Sutcliffe Smd
Dysplasia, Spondylometaphyseal, Corner Fracture Type

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Alopecia, Neurologic Defects, And Endocrinopathy Syndrome

Ane Syndrome	ANES
Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome	Alopecia-Progressive Neurological Defect-Endocrinopathy
Endocrine System Diseases

Severe Congenital Neutropenia

Congenital Neutropenia	Neutropenia, Severe Congenital
Congenital Agranulocytosis	Infantile Genetic Agranulocytosis
Kostmann Disease	Kostmann'S Agranulocytosis
Kostmann'S Syndrome	Severe Infantile Genetic Neutropenia

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia	Aase Syndrome
Erythrogenesis Imperfecta	Anemia, Diamond-Blackfan
Congenital Hypoplastic Anemia	Aase-Smith Ii Syndrome
Bds	Blackfan-Diamond Anemia
Congenital Prca	Congenital Hypoplastic Anemia, Blackfan-Diamond Type
Dba	Blackfan - Diamond Syndrome
Chronic Constitutional Pure Red Cell Anaemia	Anemia Diamond Blackfan Type
Anemia Congenital Erythroid Hypoplastic	Aregenerative Anemia Chronic Congenital
Blackfan Diamond Syndrome	Red Cell Aplasia, Pure Hereditary
Aase-Smith Syndrome Ii	Bda
Blackfan Diamond Anemia	Blackfan-Diamond Disease
Blackfan-Diamond Syndrome	Chronic Congenital Agenerative Anemia
Congenital Erythroid Hypoplastic Anemia	Congenital Hypoplastic Anemia Of Blackfan And Diamond
Congenital Pure Red Cell Anemia	Hypoplastic Congenital Anemia
Inherited Erythroblastopenia	Pure Hereditary Red Cell Aplasia
Anemia, Hypoplastic, Congenital	Anemia Hypoplastic Congenital
Fanconi Anemia	Constitutional Aplastic Anemia
Diamond-Blackfan Anemia 1	Aase Smith Syndrome 2
Congenital Red Cell Aplasia	Red Cell Aplasia Of Infants
Pure Red Cell Aplasia Of Infants	Congenital Red Cell Aplastic Anaemia
Congenital Pure Red Cell Anaemia	Congenital Erythroid Hypoplasia
Pearson Marrow-Pancreas Syndrome

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03882	DNAJC21 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	DNAJC21	VGNC	VGNC:102187
Macaca mulatta	DNAJC21	VGNC	VGNC:84293
Rattus norvegicus	DNAJC21	RGD	RGD:621729
Mus musculus	DNAJC21	MGD	MGI:1925371

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