Tcf12 transcription factor 12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tcf12provided by MGI
Official Full Name: transcription factor 12provided by MGI
Primary source: MGI:MGI:101877
See related: Ensembl:ENSMUSG00000032228 AllianceGenome:MGI:101877
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: HEB; ME1; REB; ALF1; HTF4; HTF-4; HEBAlt; bHLHb20; A130037E08Rik
Summary: Enables E-box binding activity and protein heterodimerization activity. Involved in positive regulation of neuron differentiation. Acts upstream of or within positive regulation of DNA-templated transcription and positive regulation of gene expression. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in craniosynostosis and hypogonadotropic hypogonadism. Orthologous to human TCF12 (transcription factor 12). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 41.6), limb E14.5 (RPKM 34.8) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 D; 9 39.85 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (71751534..72019611, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (71844252..72111893, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mapping putative enhancers in mouse oocytes and early embryos reveals TCF3/12 as key folliculogenesis regulators.
Title: Mapping putative enhancers in mouse oocytes and early embryos reveals TCF3/12 as key folliculogenesis regulators.
Distinct requirements for Tcf3 and Tcf12 during oligodendrocyte development in the mouse telencephalon.
Title: Distinct requirements for Tcf3 and Tcf12 during oligodendrocyte development in the mouse telencephalon.
Tcf12 and NeuroD1 cooperatively drive neuronal migration during cortical development.
Title: Tcf12 and NeuroD1 cooperatively drive neuronal migration during cortical development.
MACF1 promotes osteoblast differentiation by sequestering repressors in cytoplasm.
Title: MACF1 promotes osteoblast differentiation by sequestering repressors in cytoplasm.
Embryonic requirements for Tcf12 in the development of the mouse coronal suture.
Title: Embryonic requirements for Tcf12 in the development of the mouse coronal suture.
circHIPK3 regulates proliferation and differentiation of myoblast through the miR-7/TCF12 pathway.
Title: circHIPK3 regulates proliferation and differentiation of myoblast through the miR-7/TCF12 pathway.
The Concerted Action of E2-2 and HEB Is Critical for Early Lymphoid Specification.
Title: The Concerted Action of E2-2 and HEB Is Critical for Early Lymphoid Specification.
Transcriptome and ChIP-seq analyses revealed that E protein directly regulates a large proportion of the genes that are specific to effector Treg cell activation, and importantly, most of the up-regulated genes in E protein-deficient Treg cells are also TCR dependent
Title: E-protein regulatory network links TCR signaling to effector Treg cell differentiation.
TCF-1 both enhances HEB protein stability and functionally cooperates with HEB in defining the epigenetic and transcriptional status of CD4(+)CD8(+) thymocytes
Title: TCF-1 and HEB cooperate to establish the epigenetic and transcription profiles of CD4(+)CD8(+) thymocytes.
HEB may be required for a proper regulation of Lpar1 expression in the embryonic neocortical neuroblast cells.
Title: HeLa E-Box Binding Protein, HEB, Inhibits Promoter Activity of the Lysophosphatidic Acid Receptor Gene Lpar1 in Neocortical Neuroblast Cells.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (4)
Endonuclease-mediated (4) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tcf12 (e-PCR), detects polymorphism
- UniSTS:546568

RH127049 (e-PCR)
- UniSTS:208409

PMC133542P2 (e-PCR)
- UniSTS:270626

Tcf12 (e-PCR), detects polymorphism
- UniSTS:547157

NoName (e-PCR)
- UniSTS:236185

Tcf12 (e-PCR), detects polymorphism
- UniSTS:144555

Tcf12 (e-PCR), detects polymorphism
- UniSTS:256494

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables HMG box domain binding	IEA Inferred from Electronic Annotation more info
enables HMG box domain binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables SMAD binding	IEA Inferred from Electronic Annotation more info
enables SMAD binding	ISO Inferred from Sequence Orthology more info
enables bHLH transcription factor binding	IEA Inferred from Electronic Annotation more info
enables bHLH transcription factor binding	ISO Inferred from Sequence Orthology more info
enables cAMP response element binding	IEA Inferred from Electronic Annotation more info
enables cAMP response element binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
contributes_to transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to gonadotropin-releasing hormone	ISO Inferred from Sequence Orthology more info
involved_in response to gonadotropin-releasing hormone	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IEA Inferred from Electronic Annotation more info
part_of RNA polymerase II transcription regulator complex	ISO Inferred from Sequence Orthology more info
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription factor 12

Names: DNA-binding protein HTF4; E-box-binding protein; TCF-12; class A helix-loop-helix transcription factor ME1; transcription factor HTF-4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001253862.1 → NP_001240791.1 transcription factor 12 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses a different segment for its 5' UTR and lacks an alternate exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.

Source sequence(s)

AK133958, AK134037, AK134502, BQ127642

Consensus CDS

CCDS72272.1

UniProtKB/TrEMBL

V9GWU2

Conserved Domains (1) summary

cd18945
Location:571 → 655

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
NM_001253863.1 → NP_001240792.1 transcription factor 12 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) has a different 5' end and lacks several exon in the coding region, which results in the use of a downstream start codon, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus when it is compared to isoform 1.

Source sequence(s)

AK133958, AK134502, AK135376, BQ127642, CJ164494

Consensus CDS

CCDS72271.1

UniProtKB/TrEMBL

Q3UZA4, V9GX46

Related

ENSMUSP00000138978.2, ENSMUST00000183918.8

Conserved Domains (2) summary

smart00353
Location:437 → 490

HLH; helix loop helix domain

pfam09786
Location:105 → 292

CytochromB561_N; Cytochrome B561, N terminal
NM_001253864.1 → NP_001240793.1 transcription factor 12 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) has a different 5' end and lacks several exons in the coding region, which results in the use of a downstream start codon, compared to variant 1. The resulting protein (isoform 4) is shorter and has a distinct N-terminus when it is compared to isoform 1.

Source sequence(s)

AK133958, AK134502, AK135376, BQ127642, CJ164494

UniProtKB/TrEMBL

Q3UZA4

Related

ENSMUSP00000139334.2, ENSMUST00000184448.8

Conserved Domains (1) summary

smart00353
Location:413 → 466

HLH; helix loop helix domain
NM_001253865.1 → NP_001240794.1 transcription factor 12 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks several exons in the coding region, compared to variant 1. The resulting protein (isoform 5) is shorter when it is compared to isoform 1.

Source sequence(s)

AK133958, AK134502, BQ127642, BY739497, X64840

UniProtKB/TrEMBL

Q8K1X3

Conserved Domains (1) summary

smart00353
Location:364 → 417

HLH; helix loop helix domain
NM_011544.3 → NP_035674.2 transcription factor 12 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).

Source sequence(s)

AK133958, AK134502, AK143246, BQ127642, BY739497, X64840

Consensus CDS

CCDS23329.1

UniProtKB/Swiss-Prot

E9QPN4, Q61286

UniProtKB/TrEMBL

V9GWU2

Related

ENSMUSP00000139365.2, ENSMUST00000183404.8

Conserved Domains (1) summary

cd18945
Location:595 → 679

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

71751534..72019611 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036154818.1 → XP_036010711.1 transcription factor 12 isoform X14

UniProtKB/TrEMBL

Q8K1X3

Conserved Domains (1) summary

cd18945
Location:376 → 460

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_006510998.4 → XP_006511061.1 transcription factor 12 isoform X5

UniProtKB/TrEMBL

V9GWU2

Conserved Domains (1) summary

cd18945
Location:570 → 654

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_006510999.4 → XP_006511062.1 transcription factor 12 isoform X6

UniProtKB/TrEMBL

V9GWU2

Conserved Domains (1) summary

cd18945
Location:570 → 654

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_006510997.4 → XP_006511060.1 transcription factor 12 isoform X4

UniProtKB/TrEMBL

V9GWU2

Related

ENSMUSP00000034755.7, ENSMUST00000034755.13

Conserved Domains (1) summary

cd18945
Location:571 → 655

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_006510995.4 → XP_006511058.1 transcription factor 12 isoform X2

UniProtKB/TrEMBL

V9GWU2

Conserved Domains (1) summary

cd18945
Location:594 → 678

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_006510996.4 → XP_006511059.1 transcription factor 12 isoform X3

UniProtKB/TrEMBL

V9GWU2

Conserved Domains (1) summary

cd18945
Location:594 → 678

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_030244212.2 → XP_030100072.1 transcription factor 12 isoform X9

UniProtKB/TrEMBL

V9GWU2

Conserved Domains (1) summary

cd18945
Location:512 → 596

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_017313270.3 → XP_017168759.1 transcription factor 12 isoform X8

UniProtKB/TrEMBL

V9GWU2

Conserved Domains (1) summary

cd18945
Location:513 → 597

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_006511000.5 → XP_006511063.1 transcription factor 12 isoform X7

UniProtKB/TrEMBL

V9GWU2

Conserved Domains (1) summary

cd18945
Location:537 → 621

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_006510994.5 → XP_006511057.1 transcription factor 12 isoform X1

UniProtKB/Swiss-Prot

E9QPN4, Q61286

UniProtKB/TrEMBL

V9GWU2

Conserved Domains (1) summary

cd18945
Location:595 → 679

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_030244214.1 → XP_030100074.1 transcription factor 12 isoform X12

UniProtKB/TrEMBL

Q3UZA4

Conserved Domains (1) summary

cd18945
Location:434 → 518

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_006511002.2 → XP_006511065.1 transcription factor 12 isoform X13

UniProtKB/TrEMBL

Q3UZA4

Conserved Domains (1) summary

cd18945
Location:434 → 518

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_030244213.1 → XP_030100073.1 transcription factor 12 isoform X10

UniProtKB/TrEMBL

Q3UZA4

Conserved Domains (1) summary

cd18945
Location:458 → 542

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
XM_036154817.1 → XP_036010710.1 transcription factor 12 isoform X11

UniProtKB/TrEMBL

Q3UZA4

Conserved Domains (1) summary

cd18945
Location:458 → 542

bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins