SDHAF2 - succinate dehydrogenase complex assembly factor 2 Gene

中文名称：琥珀酸脱氢酶复合物组装因子 2

种属: Homo sapiens

同用名: PGL2; SDH5; hSDH5; C11orf79

基因 ID: 54949 | 基因类型: protein coding

关于 SDHAF2

Cytogenetic location: 11q12.2 Genomic coordinates (GRCh38): 11:61,430,124-61,446,733 (from NCBI)

This gene has 8 transcripts (splice variants), 202 orthologues and is associated with 47 phenotypes. Ubiquitous expression in lymph node (RPKM 19.3), adrenal (RPKM 17.1) and 25 other tissues.

功能概要

该基因编码琥珀酸脱氢酶复合物亚基 (SDHA) 黄化所需的线粒体组装因子，这是琥珀酸脱氢酶复合物活性所必需的。该基因的突变与副神经节瘤有关。[RefSeq 提供，2022 年 5 月]

This gene encodes a mitochondrial assembly factor needed for the flavination of a Succinate Dehydrogenase complex subunit (SDHA), which is required for activity of the Succinate Dehydrogenase complex. Mutations in this gene are associated with paraganglioma. [provided by RefSeq, May 2022]

SDHAF2 基因产物(1)

mRNA	Protein	Name
NM_017841.4	NP_060311.1	succinate dehydrogenase assembly factor 2, mitochondrial

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	19628817	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mitochondrial electron transport, succinate to ubiquinone	IMP IMP: 通过突变表型推断	19628817	GOA
involved in mitochondrial respiratory chain complex II assembly	IDA IDA: 通过直接分析推断	32887801	GOA
acts upstream of or within negative regulation of canonical Wnt signaling pathway	IGI IGI: 通过遗传相互作用推断	23983127	GOA
acts upstream of or within negative regulation of epithelial to mesenchymal transition	IMP IMP: 通过突变表型推断	23983127	GOA
acts upstream of or within protein dephosphorylation	IGI IGI: 通过遗传相互作用推断	23983127	GOA
involved in protein-FAD linkage	IMP IMP: 通过突变表型推断	19628817	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrion	IDA IDA: 通过直接分析推断	19628817	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

SDHAF2 蛋白结构

Sdh5

0
100
166 a.a.

蛋白主名

其他名称

succinate dehydrogenase assembly factor 2, mitochondrial

SDH assembly factor 2

SDHAF2 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
Intra	SDHAF2	Q9NX18	SDHA	Homo sapiens	P31040	Anti Tag CoIP	26496610
Intra	SDHAF2	Q9NX18	SDHA	Homo sapiens	P31040	Anti Tag CoIP	19628817

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

Paragangliomas 2

PGL2	Glomus Tumors, Familial, 2
Sdhaf2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome	Familial Non-Chromaffin Paragangliomas 2
Glomus Tumors Familial 2	Paragangliomas, Type 2

Hereditary Paraganglioma-Pheochromocytoma Syndromes

Hereditary Pheochromocytoma-Paraganglioma	Hereditary Paraganglioma-Pheochromocytoma
Familial Pheochromocytoma-Paraganglioma	Paragangliomas 2
Paragangliomas 3	Paragangliomas 4
Sdhx-Related Paraganglioma-Pheochromocytoma	Familial Paraganglioma Syndrome
Familial Paraganglioma-Pheochromocytoma Syndromes	Fpgl
Fpgl/Pheo	Paragangliomas 1
Paraganglioma

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome	Common Syndrome
Bap1 Cancer Syndrome	Bap1-Tpds
Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms	Tumor Predisposition Syndrome
Tumor Susceptibility Linked To Germline Bap1 Mutations	Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms
Tumor Predisposition

Paraganglioma

Chemodectoma	Glomus Body Tumor
Paragangliomas	Carotid Body Paraganglioma
Extra-Adrenal Paraganglioma

Neural Crest Tumor

Neural Crest-Derived Tumors

Persistent Generalized Lymphadenopathy

Pgl	Persistant Generalized Lymphadenopathy

Foster-Kennedy Syndrome

Disorder Of The Optic Nerve	Optic Nerve Diseases
Disease Of Optic Cranial Nerve	Disease Of Optic Nerve
Disease Of Second Cranial Nerve	Disorder Of Optic Cranial Nerve
Disorder Of Second Cranial Nerve	Disorders Of 2nd Nerve

Extra-Adrenal Pheochromocytoma

Pheochromocytoma, Extra-Adrenal

Mitochondrial Complex Ii Deficiency

Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency	Isolated Succinate-Coenzyme Q Reductase Deficiency
Isolated Succinate-Coq Reductase Deficiency	Isolated Succinate-Ubiquinone Reductase Deficiency
Mitochondrial Respiratory Chain Complex Ii Deficiency	Complex 2 Mitochondrial Respiratory Chain Deficiency
Succinate Coq Reductase Deficiency	Succinate Dehydrogenase Deficiency
Isolated Succinate Dehydrogenase Deficiency	Succinate-Coenzyme Q Reductase Deficiency

Lymph Node Disease

Abnormality Of The Lymph Nodes

Disorder Of Lymph Node

Malignant Pheochromocytoma

Pheochromocytoma, Malignant

Adrenal Medulla Cancer

Adrenal Medulla Neoplasm	Adrenal Medulla Tumor
Malignant Neoplasm Of Adrenal Medulla	Malignant Tumor Of The Adrenal Medulla
Adrenal Medulla Carcinoma	Neoplasm Of Adrenal Medulla

Paraganglioma And Gastric Stromal Sarcoma

Carney-Stratakis Syndrome	Paraganglioma And Gastrointestinal Stromal Tumor
Carney Dyad	Carney-Stratakis Dyad Of Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma And Gist	Carney-Stratakis Dyad
Gist-Paraganglioma Dyad	PGGSS
Paraganglioma, Gastric Stromal Sarcoma	Gastrointestinal Stromal Tumors

Pheochromocytoma

Pheochromocytoma, Susceptibility To	Phaeochromocytoma
Adrenal Gland Chromaffin Paraganglioma	Adrenal Gland Chromaffinoma
Adrenal Gland Paraganglioma	Adrenal Gland Pheochromocytoma
Chromaffin Paraganglioma Of The Adrenal Gland	Intraadrenal Paraganglioma
PCC	Chromaffin Cell Tumor
Medullary Chromaffinoma	Medullary Paraganglioma
Pheochromoblastoma	Pheochromocytomas
Chromaffin Cell Neoplasm	Pheochromocytoma, Malignant

Multiple Endocrine Neoplasia, Type Iia

Multiple Endocrine Neoplasia Type 2a	Sipple Syndrome
Multiple Endocrine Neoplasia Type 2	MEN2A
Men2	Ptc Syndrome
Multiple Endocrine Neoplasia, Type 2	Multiple Endocrine Neoplasia Iia
Men 2a	Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma
Multiple Endocrine Neoplasia, Type 2a	Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma
Multiple Endocrine Neoplasia Ii	Men2 Syndrome
Men-2a Syndrome	Multiple Neoplasia 2a
Multiple Neoplasia Type 2

Endocrine Organ Benign Neoplasm

Chondroma

Central Chondroma

Enchondroma

Duodenal Somatostatinoma

Duodenal Delta Cell Somatostatin Producing Tumor

Duodenal Somatostatin-Producing Neuroendocrine Tumor

Multiple Endocrine Neoplasia, Type Iib

Multiple Endocrine Neoplasia Type 2b	MEN2B
Wagenmann-Froboese Syndrome	Multiple Endocrine Neoplasia Iib
Mucosal Neuroma Syndrome	Multiple Endocrine Neoplasia, Type 3
Multiple Endocrine Neoplasia, Type 2b	Men Iib
Neuromata, Mucosal, With Endocrine Tumors	Multiple Endocrine Neoplasia, Type Iii, Formerly
Men3, Formerly	Men Type Iib
Men 2b	Multiple Endocrine Neoplasia Type 3
Multiple Neoplasia 2b	Neoplasia, Endocrine, Multiple, Type Iib

Von Hippel-Lindau Syndrome

Von Hippel-Lindau Disease	Vhl
Vhl Syndrome	VHLS
Von Hippel-Lindau Syndrome, Modifier Of	Hippel Lindau Syndrome
Angiomatosis Retinae	Cerebelloretinal Angiomatosis, Familial
Hippel-Lindau Disease	Familial Cerebelloretinal Angiomatosis
Lindau Disease	VHLD

Peripheral Nervous System Benign Neoplasm

Autonomic Nervous System Benign Neoplasm

Cerebral Angioma

Hemangioma Of Cerebrum

Cerebral Hemangioma

Gastrointestinal Stromal Tumor

GIST	Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Sarcoma	Gastrointestinal Stromal Tumor, Familial
Gant	Gastrointestinal Stromal Tumour
Stromal Tumor Of Gastrointestinal Tract	Stromal Tumour Of Gastrointestinal Tract
Gastrointestinal Stromal Neoplasm	Paraganglioma And Gastric Stromal Sarcoma
Plexosarcoma

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

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-RS12592	SDHAF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	SDHAF2	VGNC	VGNC:101394
Mus musculus	SDHAF2	MGD	MGI:1913322
Bos taurus	SDHAF2	VGNC	VGNC:56278
Rattus norvegicus	SDHAF2	RGD	RGD:1309216
Canis familiaris	SDHAF2	VGNC	VGNC:56094

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SDHAF2 - succinate dehydrogenase complex assembly factor 2 Gene

关于 SDHAF2

功能概要

SDHAF2 基因产物(1)

SDHAF2 蛋白结构

SDHAF2 蛋白互作信息

关联疾病

直系同源

热门区域

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SDHAF2 - succinate dehydrogenase complex assembly factor 2 Gene

关于 SDHAF2

功能概要

SDHAF2 基因产物(1)

SDHAF2 蛋白结构

SDHAF2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z