SDHAF2 - succinate dehydrogenase complex assembly factor 2 Gene

Homo sapiens

Also known as PGL2; SDH5; hSDH5; C11orf79

Gene ID: 54949 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19628817	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial electron transport, succinate to ubiquinone	IMP IMP: Inferred from mutant phenotype	19628817	GOA
involved in mitochondrial respiratory chain complex II assembly	IDA IDA: Inferred from direct assay	32887801	GOA
acts upstream of or within negative regulation of canonical Wnt signaling pathway	IGI IGI: Inferred from genetic interaction	23983127	GOA
acts upstream of or within negative regulation of epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	23983127	GOA
acts upstream of or within protein dephosphorylation	IGI IGI: Inferred from genetic interaction	23983127	GOA
involved in protein-FAD linkage	IMP IMP: Inferred from mutant phenotype	19628817	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	19628817	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SDHAF2 Protein Structure

Sdh5

0
100
166 a.a.

Protein Preferred Names

Protein Names

succinate dehydrogenase assembly factor 2, mitochondrial

SDH assembly factor 2

SDHAF2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SDHAF2	Q9NX18	SDHA	Homo sapiens	P31040	Anti Tag CoIP	26496610
Intra	SDHAF2	Q9NX18	SDHA	Homo sapiens	P31040	Anti Tag CoIP	19628817

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12592	SDHAF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

Name
Email *

	Sorry, but the email address you supplied was invalid.