Tfap2b
Gene Detail

Symbol Name ID

Tfap2b transcription factor AP-2 beta MGI:104672

Synonyms

AP-2(beta), E130018K07Rik, Tcfap2b

Feature Type

protein coding gene

Genetic Map

Chromosome 1

6.19 cM, cytoband A2-A4
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr1:19208914-19238734 bp, + strand From NCBI annotation of GRCm38   29821 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:20688  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Tfap2b

Human homologs

Human Homolog		TFAP2B, transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
NCBI Gene ID		7021
neXtProt AC		NX_Q92481
Human Synonyms		AP-2B, AP2-B
Human Chr (Location)		6p12; chr6:50786439-50815326 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human TFAP2B

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

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.

 
Human Diseases Modeled Using Mouse Tfap2b (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (63 annotations)

Process	aorta morphogenesis, calcium ion homeostasis, ...
Component	nucleus
Function	chromatin binding, cysteine-type endopeptidase inhibitor activity involved in apoptotic process, ...

External Resources: FuncBase

Expression

Literature Summary: (47 records)
Data Summary: Results (415)    Tissues (253)    Images (60)
Theiler Stages: 2, 3, 4, 5, 13, 15, 16, 17, 18, 19, 20, 21, 23, 24, 25, 28

Assay Type	Results
RNA in situ	393
RT-PCR	22

cDNA source data(59)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(69) Genomic(2) cDNA(61) Primer pair(4) Other(2)
Microarray probesets(5)

Other database links

Ensembl Gene Model	ENSMUSG00000025927 (Evidence)
Entrez Gene	21419 (Evidence)
UniGene	137021
DFCI	TC1583523, TC1590402, TC1593693, TC1615519
DoTS	DT.101709808, DT.60117872, DT.91350349, DT.94289091
NIA Mouse Gene Index	U000082
Consensus CDS Project	CCDS14839.1, CCDS14840.1
International Mouse Knockout Project Status	Tfap2b

Sequences

Length	Strain/Species
genomic	21419	NCBI Gene Model | MGI Sequence Detail	29821	C57BL/6J
transcript	NM_001025305	RefSeq | MGI Sequence Detail	6056	C57BL/6
polypeptide	Q61313	UniProt | EBI | MGI Sequence Detail	459	Not Applicable

All sequences(40) RefSeq(4) UniProt(6)

Polymorphisms

SNPs(109 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR004979	Transcription factor AP-2
InterPro	IPR008122	Transcription factor AP-2 beta
InterPro	IPR013854	Transcription factor AP-2, C-terminal
Protein Ontology	PR:000016264	transcription factor AP-2-beta

Graphical View of Protein Domain Structure

References

(Earliest) J:30071 Mermod N, et al., Enhancer binding factors AP-4 and AP-1 act in concert to activate SV40 late transcription in vitro. Nature. 1988 Apr 7;332(6164):557-61
(Latest) J:194051 Heliot C, et al., HNF1B controls proximal-intermediate nephron segment identity in vertebrates by regulating Notch signalling components and Irx1/2. Development. 2013 Feb;140(4):873-85
All references(89)

Other accession IDs

MGD-MRK-27035, MGI:2138300