SDHAF2 - succinate dehydrogenase complex assembly factor 2 Gene

Also Known as PGL2; SDH5; hSDH5; C11orf79

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54949

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19628817	GOA

Biological Process GO Annotation	Evidence	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	SDHAF2	NCBI