Species

Mus musculus

Symbol

Pdhb

Name

pyruvate dehydrogenase (lipoamide) beta

Synonyms

2610103L06Rik
AL024199

Biotype

protein coding gene

Automated Description

Predicted to enable pyruvate dehydrogenase (acetyl-transferring) activity. Predicted to contribute to pyruvate dehydrogenase (NAD+) activity. Predicted to be involved in acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; heart; integumental system; and nervous system. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human PDHB (pyruvate dehydrogenase E1 subunit beta).

MGI Description

Not Available

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR11624

Stringency:StringentModerateNo filter

Additional filters to further constrain the results:

Best Score OnlyBest Reverse Score Only

Count:Species:Methods:

Species	Gene symbol	Count	Best	Best reverse	Method Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Homo sapiens	PDHB	10 of 10	Yes	Yes	☑☑☑☑☑☑☑☑☑☑
Rattus norvegicus	Pdhb	9 of 9	Yes	Yes	☑ ☑☑☑☑☑☑☑☑
Xenopus tropicalis	pdhb	8 of 9	Yes	Yes	☑ ☑☑☑☑☑☑☑☐
Danio rerio	pdhb	10 of 10	Yes	Yes	☑ ☑☑☑☑☑☑☑☑ ☑
Drosophila melanogaster	Pdhb	9 of 9	Yes	Yes	☑ ☑☑☑☑☑☑☑☑
Caenorhabditis elegans	pdhb-1	9 of 9	Yes	Yes	☑ ☑☑☑☑☑☑☑☑
Saccharomyces cerevisiae	PDB1	9 of 9	Yes	Yes	☑ ☑☑☑☑☑☑☑☑

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Gene symbol	Rank	Alignment Length (aa)	Similarity %	Identity %	Method Count	Method Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
Bckdhb	1	372	52	34	2 of 9	☑☐☐☐☐☐☐☑☐
Tkt	2	326	38	24	2 of 9	☑☐☐☐☐☐☐☑☐
Tktl1	3	292	41	23	2 of 9	☑☐☐☐☐☐☐☑☐

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources

MGI

Other Sources

Phenotype Term

Annotation details

References

abnormal embryo size

View

MGI:5576271

abnormal embryo turning

View

MGI:5576271

abnormal forebrain development

View

MGI:5576271

abnormal neural tube morphology

View

MGI:5576271

abnormal pharyngeal arch morphology

View

MGI:5576271

abnormal retina blood vessel morphology

View

MGI:5576271

abnormal somite shape

View

MGI:5576271

embryonic growth retardation

View

MGI:5576271

embryonic lethality prior to tooth bud stage

View

MGI:5576271

preweaning lethality, complete penetrance

View

MGI:5576271

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Disease Associations

Must provide at least one subject

Cell color indicative of annotation volume

Species	Gene	Association	Disease Qualifier	Disease	Evidence	Source	Based On	References
No records match query. Try removing filters.

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Alleles and Variants

Genome location

Chr14:14296748...14303777 + (7.03 kb)

Assembly version

GRCm39

Viewer Help

Data currently unavailable; sequence viewer under construction

Allele/Variant Symbol	Allele Synonyms	Category	Variant
Pdhb^em2Cya	Pdhb^em1flox	allele
Pdhb^em1(IMPC)Bay		allele		Yes
NC_000080.7:g.14298641A>G		variant	rs212931655 SNP splice region variant
NC_000080.7:g.14299199G>A		variant	rs256615110 SNP intron variant
NC_000080.7:g.14299294G>A		variant	rs220833042 SNP intron variant
NC_000080.7:g.14301225C>A		variant	rs226108118 SNP intron variant
NC_000080.7:g.14300826C>A		variant	rs30162401 SNP intron variant
NC_000080.7:g.14301126G>A		variant	rs238601075 SNP intron variant
NC_000080.7:g.14298948T>A		variant	rs256679248 SNP intron variant
NC_000080.7:g.14299714C>T		variant	rs51789350 SNP intron variant

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View detailed Alleles/Variants information

Download all Alleles/Variants for all genes of the species

Transgenic Alleles

No data available

Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
Pdhb^em1(IMPC)Bay/Pdhb⁺ [background:] C57BL/6N-Pdhb^em1(IMPC)Bay/Bay			abnormal retina blood vessel morphology		MGI
Pdhb^em1(IMPC)Bay/Pdhb^em1(IMPC)Bay [background:] C57BL/6N-Pdhb^em1(IMPC)Bay/Bay			abnormal embryo size abnormal embryo turning		MGI

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Sequence Feature Viewer

Genome location

Chr14:14296748...14303777 + (7.03 kb)

Assembly version

GRCm39

Viewer Help

Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

Other Sources

Must provide at least one subject

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

58 interactor genes based on 63 annotations

Pdhb molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
protein	Aco2	Mus musculus	protein	biochemical	biogrid:2672081	PMID:32325033
protein	Atg16l1	Mus musculus	protein	affinity chromatography technology	biogrid:2573584	PMID:30196744
protein	Atp5f1a	Mus musculus	protein	biochemical	biogrid:2683547	PMID:32325033
protein	Atp5f1c	Mus musculus	protein	biochemical	biogrid:2672082	PMID:32325033
protein	Atxn1	Mus musculus	protein	affinity chromatography technology	biogrid:2622705	PMID:30457570
protein	Bckdk	Mus musculus	protein	proximity labelling technology	biogrid:3498026	PMID:36417873
protein	Cfd	Mus musculus	protein	affinity chromatography technology	biogrid:2903973	PMID:30550785
protein	Chchd3	Mus musculus	protein	biochemical	biogrid:2683548	PMID:32325033
protein	Cnot3	Mus musculus	protein	proximity labelling technology	biogrid:3498236	PMID:36417873
protein	Coq9	Mus musculus	protein	biochemical	biogrid:2672083	PMID:32325033

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Genetic Interactions

No data available