Tfap2b MGI Mouse Gene Detail - MGI:104672 - transcription factor AP-2 beta

Symbol

Tfap2b
Name

transcription factor AP-2 beta
Synonyms

AP-2(beta), E130018K07Rik, Tcfap2b

Feature Type

protein coding gene
IDs

MGI:104672
NCBI Gene: 21419
Alliance

gene page
Transcription Start Sites

18 TSS

Sequence Map

Chr1:19279138-19308800 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 6.19 cM, cytoband A2-A4
Mapping Data

3 experiments

SNPs within 2kb

560 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104672	protein coding gene	Chr1:19279132-19309071 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0015868	protein coding gene	Chr1:16820309-16852237 (+)
A/J	MGP_AJ_G0015849	protein coding gene	Chr1:16603986-16643140 (+)
AKR/J	MGP_AKRJ_G0015808	protein coding gene	Chr1:16639023-16668510 (+)
BALB/cJ	MGP_BALBcJ_G0015805	protein coding gene	Chr1:16284895-16316146 (+)
C3H/HeJ	MGP_C3HHeJ_G0015639	protein coding gene	Chr1:16685454-16716907 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016259	protein coding gene	Chr1:17591223-17623342 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0013980	protein coding gene	Chr1:14900026-14929312 (+)
CAST/EiJ	MGP_CASTEiJ_G0015220	protein coding gene	Chr1:16766230-16798504 (+)
CBA/J	MGP_CBAJ_G0015612	protein coding gene	Chr1:17987413-18022437 (+)
DBA/2J	MGP_DBA2J_G0015711	protein coding gene	Chr1:16143762-16173863 (+)
FVB/NJ	MGP_FVBNJ_G0015716	protein coding gene	Chr1:15944560-15975173 (+)
LP/J	MGP_LPJ_G0015783	protein coding gene	Chr1:17028541-17059585 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015734	protein coding gene	Chr1:18924134-18959235 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016306	protein coding gene	Chr1:16621922-16653752 (+)
PWK/PhJ	MGP_PWKPhJ_G0015004	protein coding gene	Chr1:15916137-15946696 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0014785	protein coding gene	Chr1:16684132-16713158 (+)
WSB/EiJ	MGP_WSBEiJ_G0015283	protein coding gene	Chr1:16548918-16579412 (+)

Human Ortholog

TFAP2B, transcription factor AP-2 beta

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TFAP2B, transcription factor AP-2 beta
Synonyms

AP2-B, AP-2B, AP-2beta, PDA2
Links

HGNC:11743

NCBI Gene ID: 7021

neXtProt AC: NX_Q92481

UniProt: Q92481
Chr Location

6p12.3; chr6:50818355-50847619 (+) GRCh38

MGI Vertebrate Homology

Tfap2b stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TFAP2B
Gene Tree

Tfap2b

Diseases

3 with Tfap2b mouse models; 2 with human TFAP2B associations

Human Disease

Mouse Models

Char syndrome

IDs

View 1 model

patent ductus arteriosus

IDs

View 1 model

angle-closure glaucoma

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

3 with disease annotations

References

3 with disease annotations

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Phenotype Summary

69 phenotypes from 6 alleles in 9 genetic backgrounds
2 images
35 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Endonuclease-mediated

4
Targeted

6
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

29 strains or lines available
Comparison Matrix

Gene Expression + 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.

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All GO Annotations

68
GO References

16

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1474
Tissues

448
cDNA Data

65
Literature Summary

103

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tfap2b

ZFIN tfap2b

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All Sequences

63
RefSeq

16
UniProt

6
CCDS

CCDS14839.1, CCDS14840.1, CCDS78553.1

Ensembl

ENSMUSG00000025927 (Evidence)
NCBI Gene

21419

			Length	Strain/Species	Flank
genomic	ENSMUSG00000025927	Ensembl Gene Model \| MGI Sequence Detail	29663	C57BL/6J	± kb
transcript	ENSMUST00000027059	Ensembl \| MGI Sequence Detail	5863	Not Applicable
polypeptide	ENSMUSP00000027059	Ensembl \| MGI Sequence Detail	459	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000016264 transcription factor AP-2-beta

(term hierarchy)
InterPro Domains

IPR004979 Transcription factor AP-2

IPR008122 Transcription factor AP-2 beta

IPR013854 Transcription factor AP-2, C-terminal

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All nucleic 88

Genomic 2

cDNA 68

Primer pair 11

Other 7

Microarray probesets 5

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MGD-MRK-27035, MGI:2138300

Summaries

All 167

Developmental Gene Expression 103

Diseases 3

Gene Ontology 16

Phenotypes 35
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:355654 Cai S, et al., Single-cell transcriptome and chromatin accessibility mapping of upper lip and primary palate fusion. J Cell Mol Med. 2024 Oct;28(19):e70128

TSS for Tfap2b:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr6030	Chr1:19279164-19279191 (+)	40 bp
Tssr6031	Chr1:19279207-19279218 (+)	75 bp
Tssr6032	Chr1:19279222-19279235 (+)	91 bp
Tssr6033	Chr1:19279238-19279257 (+)	110 bp
Tssr6034	Chr1:19279262-19279277 (+)	132 bp
Tssr6035	Chr1:19279294-19279313 (+)	166 bp
Tssr6036	Chr1:19279318-19279325 (+)	184 bp
Tssr6037	Chr1:19279336-19279350 (+)	205 bp
Tssr6038	Chr1:19279364-19279377 (+)	233 bp
Tssr6039	Chr1:19279379-19279401 (+)	252 bp
Tssr6040	Chr1:19282328-19282330 (+)	3,191 bp
Tssr6041	Chr1:19282495-19282497 (+)	3,358 bp
Tssr6042	Chr1:19282669-19282692 (+)	3,543 bp
Tssr6043	Chr1:19305550-19305556 (+)	26,415 bp
Tssr6044	Chr1:19305717-19305727 (+)	26,584 bp
Tssr6045	Chr1:19305993-19306006 (+)	26,862 bp
Tssr6046	Chr1:19307630-19307641 (+)	28,498 bp
Tssr6047	Chr1:19307825-19307836 (+)	28,693 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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