U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

    TCF12 transcription factor 12 [ Homo sapiens (human) ]

    Gene ID: 6938, updated on 27-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    TCF12provided by HGNC
    Official Full Name
    transcription factor 12provided by HGNC
    Primary source
    HGNC:HGNC:11623
    See related
    Ensembl:ENSG00000140262 MIM:600480; AllianceGenome:HGNC:11623
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HEB; p64; CRS3; HH26; HTF4; TCF-12; bHLHb20; HsT17266
    Summary
    The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 23.3), endometrium (RPKM 15.8) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See TCF12 in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (56918090..57291310)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (54721353..55094637)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (57210288..57583508)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak2351 silencer Neighboring gene acyl-CoA binding domain containing 7 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6467 Neighboring gene NANOG hESC enhancer GRCh37_chr15:57184049-57184608 Neighboring gene long intergenic non-protein coding RNA 3065 Neighboring gene TCF12 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6469 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6472 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:57269446-57269630 Neighboring gene VISTA enhancer hs357 Neighboring gene VISTA enhancer hs623 Neighboring gene MPRA-validated peak2352 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:57490067-57490736 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:57490737-57491406 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:57491407-57492076 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9460 Neighboring gene small nucleolar RNA, C/D box 13D Neighboring gene ReSE screen-validated silencer GRCh37_chr15:57598867-57599070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:57615704-57616211 Neighboring gene long intergenic non-protein coding RNA 926 Neighboring gene long intergenic non-protein coding RNA 1413

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations. di Rocco F, et al. Eur J Hum Genet, 2014 Dec. PMID 24736737, Free PMC Article
    2. Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis. Kennedy-Williams P, et al. J Craniofac Surg, 2021 May 1. PMID 33904513
    3. Decreased expression of TCF12 contributes to progression and predicts biochemical recurrence in patients with prostate cancer. Chen QB, et al. Tumour Biol, 2017 Jun. PMID 28651494
    4. miR-218-5p inhibits the malignant progression of glioma via targeting TCF12. Gu J, et al. Tumori, 2022 Aug. PMID 34121515
    5. Distinguishable patterns of protein-DNA interactions involving complexes of basic helix-loop-helix proteins. Doyle K, et al. J Biol Chem, 1994 Apr 22. PMID 8163514

    See all (141) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TCF12-regulated GRB7 facilitates the HER2+ breast cancer progression by activating Notch1 signaling pathway.
      Title: TCF12-regulated GRB7 facilitates the HER2+ breast cancer progression by activating Notch1 signaling pathway.
    2. Lncrna CASC15 Activated By TCF12 Promote Colorectal Cancer Progression via EMT.
      Title: Lncrna CASC15 Activated By TCF12 Promote Colorectal Cancer Progression via EMT.
    3. Nuclear Tubulin Enhances CXCR4 Transcription and Promotes Chemotaxis Through TCF12 Transcription Factor in human Hematopoietic Stem Cells.
      Title: Nuclear Tubulin Enhances CXCR4 Transcription and Promotes Chemotaxis Through TCF12 Transcription Factor in human Hematopoietic Stem Cells.
    4. RNA-binding protein DHX9 promotes glioma growth and tumor-associated macrophages infiltration via TCF12.
      Title: RNA-binding protein DHX9 promotes glioma growth and tumor-associated macrophages infiltration via TCF12.
    5. Circular RNA hsa_circ_0002938 (circCRIM1) promotes the progression of esophageal squamous cell carcinoma by upregulating transcription factor 12.
      Title: Circular RNA hsa_circ_0002938 (circCRIM1) promotes the progression of esophageal squamous cell carcinoma by upregulating transcription factor 12.
    6. Auricles Anomalies in Patients With a TCF12 Gene Mutation.
      Title: Auricles Anomalies in Patients With a TCF12 Gene Mutation.
    7. miR-218-5p inhibits the malignant progression of glioma via targeting TCF12.
      Title: miR-218-5p inhibits the malignant progression of glioma via targeting TCF12.
    8. Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
      Title: Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
    9. Long non-coding RNA GLIDR accelerates the tumorigenesis of lung adenocarcinoma by miR-1270/TCF12 axis.
      Title: Long non-coding RNA GLIDR accelerates the tumorigenesis of lung adenocarcinoma by miR-1270/TCF12 axis.
    10. Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
      Title: Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hypogonadotropic hypogonadism 26 with or without anosmia
    MedGen: C5676903 OMIM: 619718 GeneReviews: Not available
    		Compare labs
    TCF12-related craniosynostosis
    MedGen: C3715051 OMIM: 615314 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-08-16)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-08-16)

    ClinGen Genome Curation PagePubMed

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

    Go to the top of the page Help

    Replication interactions

    Interaction Pubs
    Knockdown of transcription factor 12 (TCF12; HTF4) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr downregulates the gene expression of TCF12 in human monocyte-derived dendritic cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables E-box binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables HMG box domain binding IEA
    Inferred from Electronic Annotation
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables SMAD binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables bHLH transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables cAMP response element binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cis-regulatory region sequence-specific DNA binding IC
    Inferred by Curator
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    transcription factor 12
    Names
    DNA-binding protein HTF4
    E-box-binding protein
    class B basic helix-loop-helix protein 20
    helix-loop-helix transcription factor 4
    transcription factor HTF-4

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_033851.2 RefSeqGene

      Range
      5555..376764
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001306219.3 → NP_001293148.1  transcription factor 12 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks multiple exon in the 5' UTR and 5' coding region and uses an alternate 5' most exon compared to variant 1. The encoded isoform (d) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC016525, AC090532
      Consensus CDS
      CCDS76760.1
      UniProtKB/TrEMBL
      B4DH96, F5GY10
      Related
      ENSP00000440017.1, ENST00000543579.5
      Conserved Domains (1) summary
      smart00353
      Location:437 → 490
      HLH; helix loop helix domain

    2. NM_001306220.3 → NP_001293149.1  transcription factor 12 isoform e

      See identical proteins and their annotated locations for NP_001293149.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has multiple differences in the 5' UTR and coding region compared to variant 1. The encoded isoform (e) is shorter and has a distict N-terminus compared to isoform a.
      Source sequence(s)
      AC016525, AC090532
      Consensus CDS
      CCDS76761.1
      UniProtKB/Swiss-Prot
      Q99081
      Related
      ENSP00000444696.1, ENST00000537840.5
      Conserved Domains (2) summary
      smart00353
      Location:347 → 400
      HLH; helix loop helix domain
      pfam10428
      Location:13 → 152
      SOG2; RAM signalling pathway protein

    3. NM_001322151.2 → NP_001309080.1  transcription factor 12 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC010999, AC016525, AC090511, AC090532
      Consensus CDS
      CCDS10160.1
      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (1) summary
      smart00353
      Location:607 → 660
      HLH; helix loop helix domain

    4. NM_001322152.2 → NP_001309081.1  transcription factor 12 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC010999, AC016525, AC090511, AC090532
      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (2) summary
      smart00353
      Location:606 → 659
      HLH; helix loop helix domain
      pfam09786
      Location:275 → 448
      CytochromB561_N; Cytochrome B561, N terminal

    5. NM_001322154.2 → NP_001309083.1  transcription factor 12 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC010999, AC016525, AC090511, AC090532
      UniProtKB/TrEMBL
      B4DH96
      Conserved Domains (2) summary
      smart00353
      Location:388 → 441
      HLH; helix loop helix domain
      pfam09786
      Location:56 → 229
      CytochromB561_N; Cytochrome B561, N terminal

    6. NM_001322156.2 → NP_001309085.1  transcription factor 12 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC010999, AC016525, AC090511, AC090532
      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (2) summary
      smart00353
      Location:549 → 602
      HLH; helix loop helix domain
      pfam09786
      Location:217 → 390
      CytochromB561_N; Cytochrome B561, N terminal

    7. NM_001322157.3 → NP_001309086.1  transcription factor 12 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC010999, AC016525, AC090511, AC090532
      Consensus CDS
      CCDS10159.1
      UniProtKB/Swiss-Prot
      B4E1W1, Q7Z3D9, Q86TC1, Q86VM2, Q99081
      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (1) summary
      smart00353
      Location:583 → 636
      HLH; helix loop helix domain

    8. NM_001322158.2 → NP_001309087.1  transcription factor 12 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC010999, AC016525, AC090511, AC090532
      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (1) summary
      smart00353
      Location:525 → 578
      HLH; helix loop helix domain

    9. NM_001322159.3 → NP_001309088.1  transcription factor 12 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC010999, AC016525, AC090511, AC090532
      Consensus CDS
      CCDS10160.1
      UniProtKB/TrEMBL
      B4DGI9
      Related
      ENSP00000453876.1, ENST00000559609.5
      Conserved Domains (1) summary
      smart00353
      Location:607 → 660
      HLH; helix loop helix domain

    10. NM_001322161.2 → NP_001309090.1  transcription factor 12 isoform k

      Status: REVIEWED

      Source sequence(s)
      AC010999, AC016525, AC090511, AC090532
      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (2) summary
      smart00353
      Location:606 → 659
      HLH; helix loop helix domain
      pfam09786
      Location:275 → 447
      CytochromB561_N; Cytochrome B561, N terminal

    11. NM_001322162.2 → NP_001309091.1  transcription factor 12 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC010999, AC016525, AC090511, AC090532
      Consensus CDS
      CCDS10160.1
      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (1) summary
      smart00353
      Location:607 → 660
      HLH; helix loop helix domain

    12. NM_001322164.2 → NP_001309093.1  transcription factor 12 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC010999, AC016525, AC090511, AC090532
      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (1) summary
      smart00353
      Location:595 → 648
      HLH; helix loop helix domain

    13. NM_001322165.2 → NP_001309094.1  transcription factor 12 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC010999, AC016525, AC090511, AC090532
      Consensus CDS
      CCDS10159.1
      UniProtKB/Swiss-Prot
      B4E1W1, Q7Z3D9, Q86TC1, Q86VM2, Q99081
      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (1) summary
      smart00353
      Location:583 → 636
      HLH; helix loop helix domain

    14. NM_003205.4 → NP_003196.1  transcription factor 12 isoform b

      See identical proteins and their annotated locations for NP_003196.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region (compared to variant 1), resulting in a protein that maintains the reading frame but is shorter, compared to isoform a. Variants 3 and 4 encode the same isoform b.
      Source sequence(s)
      AC016525, BC051769, BU178185, M83233
      Consensus CDS
      CCDS10159.1
      UniProtKB/Swiss-Prot
      B4E1W1, Q7Z3D9, Q86TC1, Q86VM2, Q99081
      UniProtKB/TrEMBL
      B4DGI9
      Related
      ENSP00000267811.5, ENST00000267811.9
      Conserved Domains (1) summary
      smart00353
      Location:583 → 636
      HLH; helix loop helix domain

    15. NM_207036.2 → NP_996919.1  transcription factor 12 isoform a

      See identical proteins and their annotated locations for NP_996919.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform a.
      Source sequence(s)
      AC016525, BC050556, BK001049
      Consensus CDS
      CCDS10160.1
      UniProtKB/TrEMBL
      B4DGI9
      Related
      ENSP00000388940.2, ENST00000438423.6
      Conserved Domains (1) summary
      smart00353
      Location:607 → 660
      HLH; helix loop helix domain

    16. NM_207037.2 → NP_996920.1  transcription factor 12 isoform a

      See identical proteins and their annotated locations for NP_996920.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform a.
      Source sequence(s)
      AC016525, BC050556, BK001049, BU178185
      Consensus CDS
      CCDS10160.1
      UniProtKB/TrEMBL
      B4DGI9
      Related
      ENSP00000331057.6, ENST00000333725.10
      Conserved Domains (1) summary
      smart00353
      Location:607 → 660
      HLH; helix loop helix domain

    17. NM_207038.2 → NP_996921.1  transcription factor 12 isoform b

      See identical proteins and their annotated locations for NP_996921.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the coding region (compared to variant 1), resulting in a protein that maintains the reading frame but is shorter, compared to isoform a. Variants 3 and 4 encode the same isoform b.
      Source sequence(s)
      AC016525, BC051769, BK001049, M80627
      Consensus CDS
      CCDS10159.1
      UniProtKB/Swiss-Prot
      B4E1W1, Q7Z3D9, Q86TC1, Q86VM2, Q99081
      UniProtKB/TrEMBL
      B4DGI9
      Related
      ENSP00000453737.1, ENST00000557843.5
      Conserved Domains (1) summary
      smart00353
      Location:583 → 636
      HLH; helix loop helix domain

    18. NM_207040.2 → NP_996923.1  transcription factor 12 isoform c

      See identical proteins and their annotated locations for NP_996923.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences in the 5' UTR and coding region compared to variant 1. This results in a shorter isoform (c) with a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC016525, AC090532, AU120213, BC051769
      Consensus CDS
      CCDS42042.1
      UniProtKB/TrEMBL
      B4DH96
      Related
      ENSP00000342459.3, ENST00000343827.7
      Conserved Domains (1) summary
      smart00353
      Location:413 → 466
      HLH; helix loop helix domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      56918090..57291310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521960.4 → XP_011520262.1  transcription factor 12 isoform X1

      See identical proteins and their annotated locations for XP_011520262.1

      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (2) summary
      smart00353
      Location:619 → 672
      HLH; helix loop helix domain
      pfam09786
      Location:287 → 460
      CytochromB561_N; Cytochrome B561, N terminal

    2. XM_047432971.1 → XP_047288927.1  transcription factor 12 isoform X3

    3. XM_047432972.1 → XP_047288928.1  transcription factor 12 isoform X4

    4. XM_047432973.1 → XP_047288929.1  transcription factor 12 isoform X5

    5. XM_011521959.4 → XP_011520261.1  transcription factor 12 isoform X1

      See identical proteins and their annotated locations for XP_011520261.1

      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (2) summary
      smart00353
      Location:619 → 672
      HLH; helix loop helix domain
      pfam09786
      Location:287 → 460
      CytochromB561_N; Cytochrome B561, N terminal

    6. XM_011521961.4 → XP_011520263.1  transcription factor 12 isoform X2

      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (2) summary
      smart00353
      Location:618 → 671
      HLH; helix loop helix domain
      pfam09786
      Location:287 → 460
      CytochromB561_N; Cytochrome B561, N terminal

    7. XM_011521962.4 → XP_011520264.1  transcription factor 12 isoform X3

      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (1) summary
      smart00353
      Location:595 → 648
      HLH; helix loop helix domain

    8. XM_011521963.4 → XP_011520265.1  transcription factor 12 isoform X4

      UniProtKB/TrEMBL
      B4DGI9
      Conserved Domains (1) summary
      smart00353
      Location:594 → 647
      HLH; helix loop helix domain

    9. XM_017022520.3 → XP_016878009.1  transcription factor 12 isoform X5

      UniProtKB/TrEMBL
      B4DGI9

    10. XM_047432977.1 → XP_047288933.1  transcription factor 12 isoform X9

    11. XM_047432978.1 → XP_047288934.1  transcription factor 12 isoform X11

    12. XM_047432975.1 → XP_047288931.1  transcription factor 12 isoform X7

    13. XM_047432976.1 → XP_047288932.1  transcription factor 12 isoform X8

    14. XM_047432974.1 → XP_047288930.1  transcription factor 12 isoform X6

    15. XM_011521969.2 → XP_011520271.1  transcription factor 12 isoform X8

      UniProtKB/TrEMBL
      B4DH96
      Conserved Domains (1) summary
      smart00353
      Location:412 → 465
      HLH; helix loop helix domain

    16. XM_011521966.3 → XP_011520268.1  transcription factor 12 isoform X10

      UniProtKB/TrEMBL
      B4DH96
      Conserved Domains (2) summary
      smart00353
      Location:371 → 424
      HLH; helix loop helix domain
      pfam09786
      Location:67 → 212
      CytochromB561_N; Cytochrome B561, N terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      54721353..55094637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378670.1 → XP_054234645.1  transcription factor 12 isoform X1

    2. XM_054378673.1 → XP_054234648.1  transcription factor 12 isoform X3

    3. XM_054378675.1 → XP_054234650.1  transcription factor 12 isoform X4

    4. XM_054378677.1 → XP_054234652.1  transcription factor 12 isoform X5

    5. XM_054378669.1 → XP_054234644.1  transcription factor 12 isoform X1

    6. XM_054378671.1 → XP_054234646.1  transcription factor 12 isoform X2

    7. XM_054378672.1 → XP_054234647.1  transcription factor 12 isoform X3

    8. XM_054378674.1 → XP_054234649.1  transcription factor 12 isoform X4

    9. XM_054378676.1 → XP_054234651.1  transcription factor 12 isoform X5

    10. XM_054378682.1 → XP_054234657.1  transcription factor 12 isoform X9

    11. XM_054378684.1 → XP_054234659.1  transcription factor 12 isoform X11

    12. XM_054378679.1 → XP_054234654.1  transcription factor 12 isoform X7

    13. XM_054378681.1 → XP_054234656.1  transcription factor 12 isoform X8

    14. XM_054378678.1 → XP_054234653.1  transcription factor 12 isoform X6

    15. XM_054378680.1 → XP_054234655.1  transcription factor 12 isoform X8

    16. XM_054378683.1 → XP_054234658.1  transcription factor 12 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99081.1 GenPept UniProtKB/Swiss-Prot:Q99081

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous