Species

Mus musculus

Symbol

Tfap2b

Name

transcription factor AP-2 beta

Synonyms

AI606113
AP-2(beta)

Biotype

protein coding gene

Automated Description

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including artery morphogenesis; kidney development; and limb morphogenesis. Acts upstream of with a negative effect on negative regulation of apoptotic process. Acts upstream of or within several processes, including negative regulation of neuron apoptotic process; positive regulation of transcription by RNA polymerase II; and sympathetic nervous system development. Located in nucleus. Is expressed in several structures, including genitourinary system; jaw; nervous system; sensory organ; and skin. Used to study Char syndrome; angle-closure glaucoma; and patent ductus arteriosus. Human ortholog(s) of this gene implicated in Char syndrome and patent ductus arteriosus. Orthologous to human TFAP2B (transcription factor AP-2 beta).

MGI Description

PHENOTYPE: Homozygotes have kidney cysts and show neonatal or postnatal lethality, depending on strain background. On a congenic 129P2 background, mice have tremors, polydactyly, defective tubular secretory function and ion homeostasis, hypocalcemia, hyperphosphatemia, hyperuremia, and terminal renal failure. Heterozygosity for KO or specific intronic (splice) mutations affects sleep patterns. [provided by MGI curators]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR10812

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

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

MGI

Other Sources

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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

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Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

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Sequence Feature Viewer

Genome location

Chr1:19279138...19308800 + (29.66 kb)

Assembly version

GRCm39

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Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

Other Sources

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

Molecular Interactions

Tfap2b molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

Tfap2b role	Tfap2b genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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