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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	229
Gene name	Aldolase, fructose-bisphosphate B
Gene symbol	ALDOB
Synonyms (NCBI Gene)	ALDBALDO2
Chromosome	9
Chromosome location	9q31.1
Summary	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

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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

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

521

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ALDOB-related disorder	Likely pathogenic; Pathogenic	rs748663340, rs1800546, rs76917243, rs78340951, rs118204429, rs387906225	RCV003418338 RCV003415603 RCV003952332 RCV003398398 RCV003407248 RCV004742301
Glycogen storage disease	Pathogenic	rs118204429	RCV005865142
Hereditary fructosuria	Likely pathogenic; Pathogenic	rs1402343211, rs2118332973, rs2118333206, rs2118341777, rs2118342191, rs2118342944, rs1831103567, rs2118345193, rs764701775, rs2118345550, rs2118346335, rs1478306331, rs2118346537, rs2118350958, rs2118354551 View all (92 more)	RCV001376728 RCV001376727 RCV001376726 RCV001376722 RCV001376713 RCV001376721 RCV001376710 RCV001376732 RCV001376709 RCV001376725 RCV001376720 RCV001376724 RCV001376708 RCV001376707 RCV001376731 RCV001376706 RCV001376705 RCV001376704 RCV001376718 RCV001376703 RCV001376730 RCV001376702 RCV001376717 RCV001376729 RCV001376716 RCV001376733 RCV001377835 RCV001381253 RCV001384210 RCV001957848 RCV001941654 RCV001950925 RCV002023331 RCV002007182 RCV001942092 RCV001914843 RCV001920274 RCV000000493 RCV000000494 RCV000000495 RCV000000497 RCV000000498 RCV000000500 RCV000000501 RCV000000502 RCV000000503 RCV002211036 RCV002248966 RCV002306697 RCV002309759 RCV002309134 RCV002310374 RCV000169047 RCV000169186 RCV000169110 RCV000169213 RCV000169107 RCV000169352 RCV003084680 RCV002690142 RCV002851560 RCV002961981 RCV003010311 RCV000202634 RCV000202622 RCV003015009 RCV003033790 RCV003048085 RCV003460178 RCV003468125 RCV003468129 RCV003460199 RCV003460205 RCV003460212 RCV003461477 RCV003496301 RCV003495917 RCV003599815 RCV003599796 RCV003597587 RCV004575876 RCV004576390 RCV004576395 RCV004576399 RCV000409326 RCV000410076 RCV000410511 RCV000411375 RCV000409543 RCV000409519 RCV000410286 RCV000667124 RCV000589599 RCV000674247 RCV000671699 RCV000671386 RCV000669245 RCV000672258 RCV000667914 RCV000666743 RCV000669389 RCV000664593 RCV000665845 RCV000668450 RCV000664860 RCV001385371 RCV000779689 RCV001192776 RCV001215679 RCV001215627 RCV001208927 RCV001216380 RCV003494852 RCV001263982 RCV001263983 RCV001263984 RCV001263985 RCV001283814
See cases	Likely pathogenic; Pathogenic	rs1800546, rs76917243, rs118204429	RCV002251841 RCV002251842 RCV002251843

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs35885472	RCV005900437

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)