Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	229
Gene name Gene Name - the full gene name approved by the HGNC.	Aldolase, fructose-bisphosphate B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ALDOB
Synonyms (NCBI Gene) Gene synonyms aliases	ALDB, ALDO2
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q31.1
Summary Summary of gene provided in NCBI Entrez Gene.	Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes whi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1800546	C>G	Pathogenic	Missense variant, coding sequence variant
rs35885472	A>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs61757689	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs76917243	G>T	Pathogenic	Missense variant, coding sequence variant
rs77718928	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs78340951	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs118204425	AAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs118204426	G>T	Pathogenic	Coding sequence variant, stop gained
rs118204428	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs118204429	G>A,T	Pathogenic, pathogenic-likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs118204430	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs138121153	C>A,T	Likely-pathogenic	Splice donor variant
rs138866018	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs141988626	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144196914	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs145078268	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs181639417	C>G	Pathogenic	Splice donor variant
rs199965465	T>G	Likely-pathogenic	Splice acceptor variant
rs200585150	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs202210810	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs370793608	A>C,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs387906225	TGTT>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs387906226	ACCAGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs546735701	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs574635615	G>A,T	Conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs750026492	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs752902486	G>A,C	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs764826805	C>T	Pathogenic	Splice donor variant
rs786204503	T>C	Likely-pathogenic	Splice acceptor variant
rs786204598	CCTA>-	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs864309533	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886063292	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs900220679	C>G	Likely-pathogenic	Terminator codon variant, stop lost
rs974582114	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057516379	A>T	Pathogenic-likely-pathogenic	Splice donor variant
rs1057516534	C>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1057516902	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517091	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517133	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517421	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1172384674	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1300461861	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1402966846	C>T	Likely-pathogenic	Splice acceptor variant
rs1554702325	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554702328	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554702353	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554702425	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554702666	C>T	Likely-pathogenic	Splice acceptor variant
rs1554702890	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1564077542	C>T	Pathogenic	Splice acceptor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022656	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT043866	hsa-miR-378a-3p	CLASH	23622248
MIRT1545314	hsa-miR-224	CLIP-seq
MIRT1545315	hsa-miR-23a	CLIP-seq
MIRT1545316	hsa-miR-23b	CLIP-seq
MIRT1545317	hsa-miR-23c	CLIP-seq
MIRT1545318	hsa-miR-3616-5p	CLIP-seq
MIRT1545319	hsa-miR-3647-5p	CLIP-seq
MIRT1545320	hsa-miR-4753-3p	CLIP-seq
MIRT1545321	hsa-miR-573	CLIP-seq
MIRT1545314	hsa-miR-224	CLIP-seq
MIRT1545315	hsa-miR-23a	CLIP-seq
MIRT1545316	hsa-miR-23b	CLIP-seq
MIRT1545317	hsa-miR-23c	CLIP-seq
MIRT1929630	hsa-miR-3180-5p	CLIP-seq
MIRT1545318	hsa-miR-3616-5p	CLIP-seq
MIRT1545319	hsa-miR-3647-5p	CLIP-seq
MIRT1545320	hsa-miR-4753-3p	CLIP-seq
MIRT1545321	hsa-miR-573	CLIP-seq
MIRT2170466	hsa-miR-1262	CLIP-seq
MIRT2170467	hsa-miR-4701-3p	CLIP-seq
MIRT2170468	hsa-miR-4795-3p	CLIP-seq
MIRT2170469	hsa-miR-578	CLIP-seq
MIRT2170470	hsa-miR-635	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
DBP	Activation	8383844
PPARGC1A	Activation	16891307

Show/Hide all(38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004332	Function	Fructose-bisphosphate aldolase activity	IBA
GO:0004332	Function	Fructose-bisphosphate aldolase activity	IDA	9244396, 10625657, 10970798, 17576770, 35122041
GO:0004332	Function	Fructose-bisphosphate aldolase activity	IEA
GO:0005515	Function	Protein binding	IPI	18000879, 21988832, 33961781, 35122041
GO:0005737	Component	Cytoplasm	IEA
GO:0005815	Component	Microtubule organizing center	IDA	18000879
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	35122041
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006000	Process	Fructose metabolic process	IEA
GO:0006000	Process	Fructose metabolic process	IMP	3383242
GO:0006001	Process	Fructose catabolic process	IEA
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006096	Process	Glycolytic process	IBA
GO:0006096	Process	Glycolytic process	IDA	10625657, 10970798
GO:0006096	Process	Glycolytic process	IEA
GO:0008092	Function	Cytoskeletal protein binding	IDA	9244396
GO:0016829	Function	Lyase activity	IEA
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IBA
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IDA	9244396, 10625657
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IEA
GO:0034451	Component	Centriolar satellite	IDA	18000879
GO:0034451	Component	Centriolar satellite	IEA
GO:0042802	Function	Identical protein binding	IPI	10625657
GO:0051117	Function	ATPase binding	IDA	17576770
GO:0060090	Function	Molecular adaptor activity	IDA	35122041
GO:0061609	Function	Fructose-1-phosphate aldolase activity	IBA
GO:0061609	Function	Fructose-1-phosphate aldolase activity	IDA	2649152, 10970798
GO:0061609	Function	Fructose-1-phosphate aldolase activity	IEA
GO:0061624	Process	Fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate	IEA
GO:0070061	Function	Fructose binding	IEA
GO:0070061	Function	Fructose binding	IMP	10625657
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070072	Process	Vacuolar proton-transporting V-type ATPase complex assembly	IMP	17576770
GO:1905856	Process	Negative regulation of pentose-phosphate shunt	IMP	35122041

MIM	HGNC	e!Ensembl
612724	417	ENSG00000136872

Protein

UniProt ID

P05062

Protein name

Fructose-bisphosphate aldolase B (EC 4.1.2.13) (Liver-type aldolase)

Protein function

Catalyzes the aldol cleavage of fructose 1,6-biphosphate to form two triosephosphates dihydroxyacetone phosphate and D-glyceraldehyde 3-phosphate in glycolysis as well as the reverse stereospecific aldol addition reaction in gluconeogenesis. In

PDB

1QO5 , 1XDL , 1XDM , 8D44

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00274	Glycolytic	15 → 364	Fructose-bisphosphate aldolase class-I	Domain

Sequence

MAHRFPALTQEQKKELSEIAQSIVANGKGILAADESVGTMGNRLQRIKVENTEENRRQFR
EILFSVDSSINQSIGGVILFHETLYQKDSQGKLFRNILKEKGIVVGIKLDQGGAPLAGTN
KETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANALARYASICQQ
NGLVPIVEPEVIPDGDHDLEHCQYVTEKVLAAVYKALNDHHVYLEGTLLKPNMVTAGHAC
TKKYTPEQVAMATVTALHRTVPAAVPGICFLSGGMSEEDATLNLNAINLCPLPKPWKLSF
SYGRALQASALAAWGGKAANKEATQEAFMKRAMANCQAAKGQYVHTGSSGAASTQSLFTA
CYTY

Sequence length

364

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Pentose phosphate pathway Fructose and mannose metabolism Metabolic pathways Carbon metabolism Biosynthesis of amino acids HIF-1 signaling pathway		Hereditary fructose intolerance Glycolysis Gluconeogenesis Fructose catabolism

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
hereditary fructosuria	Hereditary fructosuria	rs786204598, rs181639417, rs974582114, rs78340951, rs864309533, rs1402966846, rs370793608, rs118204428, rs764826805, rs1554702328, rs118204429, rs1057517133, rs752902486, rs1564077542, rs1057517091 View all (22 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenomatous Polyps	Associate	31122841
Anophthalmia with pulmonary hypoplasia	Associate	37597521
Basal Cell Nevus Syndrome	Associate	7909984
Breast Neoplasms	Associate	37083815
Carcinoma Hepatocellular	Associate	30482855
Carcinoma Renal Cell	Associate	27766950, 39348357
Cataract	Associate	25352737
Cholangitis Sclerosing	Associate	30344796
Colonic Neoplasms	Associate	28558381
Colorectal Neoplasms	Associate	28558381, 31122841, 33737938, 37816733
Diabetes Mellitus	Associate	35230239
Diabetes Mellitus Type 2	Stimulate	36749929
Esophageal Neoplasms	Associate	37083815
Fructose Intolerance	Associate	20882353, 35387598
Glioblastoma	Associate	36245009
Heart Diseases	Associate	26913919
Hyperglycemia	Stimulate	30202879
Hyperglycemic Hyperosmolar Nonketotic Coma	Stimulate	30202879
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	30202879
Hypoxia	Associate	33737938
Metabolic Diseases	Associate	31637888
Metabolic Syndrome	Associate	35230239
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	31637888
Neoplasm Metastasis	Associate	28558381
Neoplasms	Associate	28558381, 36978048, 37083815
Non alcoholic Fatty Liver Disease	Associate	30344796
Pancreatic Neoplasms	Associate	37597521
Schmid Fraccaro syndrome	Associate	26913919
Spherocytosis Hereditary	Associate	31122244
Testicular Germ Cell Tumor	Associate	37083815

ALDOB (aldolase, fructose-bisphosphate B)