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Entry version 180 (08 May 2019)
Sequence version 1 (01 Oct 1996)
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Protein

Transcription factor 12

Gene

TCF12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3').

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-525793 Myogenesis
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs

SIGNOR Signaling Network Open Resource

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SIGNORi
Q99081

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transcription factor 12
Short name:
TCF-12
Alternative name(s):
Class B basic helix-loop-helix protein 20
Short name:
bHLHb20
DNA-binding protein HTF4
E-box-binding protein
Transcription factor HTF-4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TCF12
Synonyms:BHLHB20, HEB, HTF4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:11623 TCF12

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600480 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99081

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Craniosynostosis 3 (CRS3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
See also OMIM:615314
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_072271483L → R in CRS3. 1 PublicationCorresponds to variant dbSNP:rs36060670Ensembl.1
Natural variantiVAR_070096600L → P in CRS3. 1 Publication1
Natural variantiVAR_070097614Q → E in CRS3. 1 PublicationCorresponds to variant dbSNP:rs886037641Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi187P → A: Decreases interaction with RUNX1T1. 1 Publication1
Mutagenesisi191P → A: Decreases interaction with RUNX1T1. 1 Publication1
Mutagenesisi192S → A: Decreases interaction with RUNX1T1. 1 Publication1

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6938

MalaCards human disease database

More...
MalaCardsi
TCF12
MIMi615314 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000140262

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
209916 Extraskeletal myxoid chondrosarcoma
35099 Isolated brachycephaly
35098 Isolated plagiocephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36381

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TCF12

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1708332

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001272281 – 682Transcription factor 12Add BLAST682

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei47PhosphoserineCombined sources1
Modified residuei67PhosphoserineCombined sources1
Modified residuei79PhosphoserineCombined sources1
Modified residuei98PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki110Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei116PhosphoserineCombined sources1
Cross-linki181Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei313PhosphothreonineCombined sources1
Modified residuei333PhosphoserineCombined sources1
Cross-linki519Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei540PhosphoserineCombined sources1
Cross-linki550Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei557PhosphothreonineCombined sources1
Modified residuei558PhosphoserineCombined sources1
Modified residuei559PhosphoserineCombined sources1
Cross-linki609Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki653Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q99081

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q99081

MaxQB - The MaxQuant DataBase

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MaxQBi
Q99081

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q99081

PeptideAtlas

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PeptideAtlasi
Q99081

PRoteomics IDEntifications database

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PRIDEi
Q99081

ProteomicsDB human proteome resource

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ProteomicsDBi
78231
78232 [Q99081-2]
78233 [Q99081-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q99081

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q99081

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in several tissues and cell types including skeletal muscle, thymus, and a B-cell line.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000140262 Expressed in 236 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q99081 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q99081 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB004432
HPA065827

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers with myogenin, E12 and ITF2 proteins. Interacts with PTF1A. Interacts with NEUROD2 (By similarity). Interacts with RUNX1T1. Interacts with AML1-MTG8/ETO (via nervy homology region 2 in oligomerized form) (PubMed:23812588). Interacts with BHLHA9 (PubMed:25466284).By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112798, 84 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q99081

Database of interacting proteins

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DIPi
DIP-29403N

Protein interaction database and analysis system

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IntActi
Q99081, 89 interactors

Molecular INTeraction database

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MINTi
Q99081

STRING: functional protein association networks

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STRINGi
9606.ENSP00000388940

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1682
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KNHNMR-B11-28[»]
4JOLX-ray2.91E/F/G/H177-200[»]

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q99081

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q99081

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini577 – 630bHLHPROSITE-ProRule annotationAdd BLAST54

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni119 – 140Leucine-zipperAdd BLAST22
Regioni182 – 196Interaction with RUNX1T11 PublicationAdd BLAST15
Regioni632 – 655Class A specific domainAdd BLAST24

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi19 – 279aaTAD9

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.1 Publication

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3910 Eukaryota
ENOG410XYUA LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155047

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000234180

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q99081

KEGG Orthology (KO)

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KOi
K15603

Identification of Orthologs from Complete Genome Data

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OMAi
FADSPHY

Database of Orthologous Groups

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OrthoDBi
571132at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q99081

TreeFam database of animal gene trees

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TreeFami
TF321672

Family and domain databases

Conserved Domains Database

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CDDi
cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF00010 HLH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50888 BHLH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q99081-1) [UniParc]FASTAAdd to basket
Also known as: a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MNPQQQRMAA IGTDKELSDL LDFSAMFSPP VNSGKTRPTT LGSSQFSGSG
60 70 80 90 100
IDERGGTTSW GTSGQPSPSY DSSRGFTDSP HYSDHLNDSR LGAHEGLSPT
110 120 130 140 150
PFMNSNLMGK TSERGSFSLY SRDTGLPGCQ SSLLRQDLGL GSPAQLSSSG
160 170 180 190 200
KPGTAYYSFS ATSSRRRPLH DSAALDPLQA KKVRKVPPGL PSSVYAPSPN
210 220 230 240 250
SDDFNRESPS YPSPKPPTSM FASTFFMQDG THNSSDLWSS SNGMSQPGFG
260 270 280 290 300
GILGTSTSHM SQSSSYGNLH SHDRLSYPPH SVSPTDINTS LPPMSSFHRG
310 320 330 340 350
STSSSPYVAA SHTPPINGSD SILGTRGNAA GSSQTGDALG KALASIYSPD
360 370 380 390 400
HTSSSFPSNP STPVGSPSPL TGTSQWPRPG GQAPSSPSYE NSLHSLQSRM
410 420 430 440 450
EDRLDRLDDA IHVLRNHAVG PSTSLPAGHS DIHSLLGPSH NAPIGSLNSN
460 470 480 490 500
YGGSSLVASS RSASMVGTHR EDSVSLNGNH SVLSSTVTTS STDLNHKTQE
510 520 530 540 550
NYRGGLQSQS GTVVTTEIKT ENKEKDENLH EPPSSDDMKS DDESSQKDIK
560 570 580 590 600
VSSRGRTSST NEDEDLNPEQ KIEREKERRM ANNARERLRV RDINEAFKEL
610 620 630 640 650
GRMCQLHLKS EKPQTKLLIL HQAVAVILSL EQQVRERNLN PKAACLKRRE
660 670 680
EEKVSAVSAE PPTTLPGTHP GLSETTNPMG HM
Length:682
Mass (Da):72,965
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9736113D9361D3F5
GO
Isoform 2 (identifier: Q99081-2) [UniParc]FASTAAdd to basket
Also known as: b

The sequence of this isoform differs from the canonical sequence as follows:
     1-170: Missing.
     171-193: DSAALDPLQAKKVRKVPPGLPSS → MYCAYPVPGMGSNSLMYYYNGKT

Show »
Length:512
Mass (Da):55,142
Checksum:i98AF7F83F8A2AEF4
GO
Isoform 3 (identifier: Q99081-3) [UniParc]FASTAAdd to basket
Also known as: c

The sequence of this isoform differs from the canonical sequence as follows:
     396-396: L → LKNRVEQQLHEHLQDAMSFLKDVCE

Show »
Length:706
Mass (Da):75,845
Checksum:i75B7B4173C9B660D
GO
Isoform 4 (identifier: Q99081-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: MNPQQQRMAA...PVNSGKTRPT → MGKRYMHHPQ...VCSLALSLCK
     40-275: Missing.

Note: No experimental confirmation available.
Show »
Length:446
Mass (Da):48,157
Checksum:i1165CAD3B87F74DD
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DGI9B4DGI9_HUMAN
Transcription factor 12
TCF12
666Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YNQ5H0YNQ5_HUMAN
Transcription factor 12
TCF12
157Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GY10F5GY10_HUMAN
Transcription factor 12
TCF12
536Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YNP8H0YNP8_HUMAN
Transcription factor 12
TCF12
339Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B4DZP2B4DZP2_HUMAN
Transcription factor 12
TCF12
316Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YML2H0YML2_HUMAN
Transcription factor 12
TCF12
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BNF4H3BNF4_HUMAN
Transcription factor 12
TCF12
48Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BRK2H3BRK2_HUMAN
Transcription factor 12
TCF12
44Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti523K → E in CAD89914 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049543300G → S. Corresponds to variant dbSNP:rs12442879EnsemblClinVar.1
Natural variantiVAR_072271483L → R in CRS3. 1 PublicationCorresponds to variant dbSNP:rs36060670Ensembl.1
Natural variantiVAR_070096600L → P in CRS3. 1 Publication1
Natural variantiVAR_070097614Q → E in CRS3. 1 PublicationCorresponds to variant dbSNP:rs886037641Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0391091 – 170Missing in isoform 2. 1 PublicationAdd BLAST170
Alternative sequenceiVSP_0574191 – 39MNPQQ…KTRPT → MGKRYMHHPQIQMISTVNLL VIHLLSHQPVCSLALSLCK in isoform 4. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_05742040 – 275Missing in isoform 4. 1 PublicationAdd BLAST236
Alternative sequenceiVSP_039110171 – 193DSAAL…GLPSS → MYCAYPVPGMGSNSLMYYYN GKT in isoform 2. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_040024396L → LKNRVEQQLHEHLQDAMSFL KDVCE in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M83233 mRNA Translation: AAB62389.1
M80627 mRNA Translation: AAA58632.1
AL831981 mRNA Translation: CAD89914.1
AK304007 mRNA Translation: BAG64923.1
BX537967 mRNA Translation: CAD97931.1
AC010999 Genomic DNA No translation available.
AC016525 Genomic DNA No translation available.
AC090511 Genomic DNA No translation available.
AC090532 Genomic DNA No translation available.
KF456057 Genomic DNA No translation available.
CH471082 Genomic DNA Translation: EAW77512.1
BC050556 mRNA Translation: AAH50556.1
M65209 mRNA Translation: AAC37571.1
BK001049 mRNA Translation: DAA01129.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10159.1 [Q99081-1]
CCDS10160.1 [Q99081-3]
CCDS42042.1 [Q99081-2]
CCDS76761.1 [Q99081-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
A42121

NCBI Reference Sequences

More...
RefSeqi
NP_001293149.1, NM_001306220.2 [Q99081-4]
NP_001309080.1, NM_001322151.1 [Q99081-3]
NP_001309086.1, NM_001322157.1 [Q99081-1]
NP_001309088.1, NM_001322159.1 [Q99081-3]
NP_001309091.1, NM_001322162.1 [Q99081-3]
NP_001309094.1, NM_001322165.1 [Q99081-1]
NP_003196.1, NM_003205.3 [Q99081-1]
NP_996919.1, NM_207036.1 [Q99081-3]
NP_996920.1, NM_207037.1 [Q99081-3]
NP_996921.1, NM_207038.1 [Q99081-1]
NP_996923.1, NM_207040.1 [Q99081-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000267811; ENSP00000267811; ENSG00000140262 [Q99081-1]
ENST00000333725; ENSP00000331057; ENSG00000140262 [Q99081-3]
ENST00000343827; ENSP00000342459; ENSG00000140262 [Q99081-2]
ENST00000438423; ENSP00000388940; ENSG00000140262 [Q99081-3]
ENST00000537840; ENSP00000444696; ENSG00000140262 [Q99081-4]
ENST00000557843; ENSP00000453737; ENSG00000140262 [Q99081-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6938

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6938

UCSC genome browser

More...
UCSCi
uc002aea.4 human [Q99081-1]
uc010ugo.3 human

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M83233 mRNA Translation: AAB62389.1
M80627 mRNA Translation: AAA58632.1
AL831981 mRNA Translation: CAD89914.1
AK304007 mRNA Translation: BAG64923.1
BX537967 mRNA Translation: CAD97931.1
AC010999 Genomic DNA No translation available.
AC016525 Genomic DNA No translation available.
AC090511 Genomic DNA No translation available.
AC090532 Genomic DNA No translation available.
KF456057 Genomic DNA No translation available.
CH471082 Genomic DNA Translation: EAW77512.1
BC050556 mRNA Translation: AAH50556.1
M65209 mRNA Translation: AAC37571.1
BK001049 mRNA Translation: DAA01129.1
CCDSiCCDS10159.1 [Q99081-1]
CCDS10160.1 [Q99081-3]
CCDS42042.1 [Q99081-2]
CCDS76761.1 [Q99081-4]
PIRiA42121
RefSeqiNP_001293149.1, NM_001306220.2 [Q99081-4]
NP_001309080.1, NM_001322151.1 [Q99081-3]
NP_001309086.1, NM_001322157.1 [Q99081-1]
NP_001309088.1, NM_001322159.1 [Q99081-3]
NP_001309091.1, NM_001322162.1 [Q99081-3]
NP_001309094.1, NM_001322165.1 [Q99081-1]
NP_003196.1, NM_003205.3 [Q99081-1]
NP_996919.1, NM_207036.1 [Q99081-3]
NP_996920.1, NM_207037.1 [Q99081-3]
NP_996921.1, NM_207038.1 [Q99081-1]
NP_996923.1, NM_207040.1 [Q99081-2]

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KNHNMR-B11-28[»]
4JOLX-ray2.91E/F/G/H177-200[»]
SMRiQ99081
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112798, 84 interactors
CORUMiQ99081
DIPiDIP-29403N
IntActiQ99081, 89 interactors
MINTiQ99081
STRINGi9606.ENSP00000388940

PTM databases

iPTMnetiQ99081
PhosphoSitePlusiQ99081

Polymorphism and mutation databases

BioMutaiTCF12
DMDMi1708332

Proteomic databases

EPDiQ99081
jPOSTiQ99081
MaxQBiQ99081
PaxDbiQ99081
PeptideAtlasiQ99081
PRIDEiQ99081
ProteomicsDBi78231
78232 [Q99081-2]
78233 [Q99081-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6938
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000267811; ENSP00000267811; ENSG00000140262 [Q99081-1]
ENST00000333725; ENSP00000331057; ENSG00000140262 [Q99081-3]
ENST00000343827; ENSP00000342459; ENSG00000140262 [Q99081-2]
ENST00000438423; ENSP00000388940; ENSG00000140262 [Q99081-3]
ENST00000537840; ENSP00000444696; ENSG00000140262 [Q99081-4]
ENST00000557843; ENSP00000453737; ENSG00000140262 [Q99081-1]
GeneIDi6938
KEGGihsa:6938
UCSCiuc002aea.4 human [Q99081-1]
uc010ugo.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6938
DisGeNETi6938

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TCF12
HGNCiHGNC:11623 TCF12
HPAiCAB004432
HPA065827
MalaCardsiTCF12
MIMi600480 gene
615314 phenotype
neXtProtiNX_Q99081
OpenTargetsiENSG00000140262
Orphaneti209916 Extraskeletal myxoid chondrosarcoma
35099 Isolated brachycephaly
35098 Isolated plagiocephaly
PharmGKBiPA36381

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3910 Eukaryota
ENOG410XYUA LUCA
GeneTreeiENSGT00940000155047
HOGENOMiHOG000234180
InParanoidiQ99081
KOiK15603
OMAiFADSPHY
OrthoDBi571132at2759
PhylomeDBiQ99081
TreeFamiTF321672

Enzyme and pathway databases

ReactomeiR-HSA-525793 Myogenesis
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
SIGNORiQ99081

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TCF12 human
EvolutionaryTraceiQ99081

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TCF12

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6938

Protein Ontology

More...
PROi
PR:Q99081

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000140262 Expressed in 236 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ99081 baseline and differential
GenevisibleiQ99081 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHTF4_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99081
Secondary accession number(s): B4E1W1
, Q7Z3D9, Q86TC1, Q86VM2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: May 8, 2019
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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