TCF12 - transcription factor 12 Gene

Also Known as HEB; p64; CRS3; HH26; HTF4; TCF-12; bHLHb20; HsT17266

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6938

About TCF12

Cytogenetic location: 15q21.3 Genomic coordinates (GRCh38): 15:56,918,090-57,291,310 (from NCBI)

This gene has 28 transcripts (splice variants), 303 orthologues, 2 paralogues and is associated with 81 phenotypes. Ubiquitous expression in brain (RPKM 23.3), endometrium (RPKM 15.8) and 25 other tissues.

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]

TCF12 Products (18)

mRNA	Protein	Name
NM_001306219.3	NP_001293148.1	transcription factor 12 isoform d
NM_001306220.3	NP_001293149.1	transcription factor 12 isoform e
NM_001322151.2	NP_001309080.1	transcription factor 12 isoform a
NM_001322152.2	NP_001309081.1	transcription factor 12 isoform f
NM_001322154.2	NP_001309083.1	transcription factor 12 isoform g
NM_001322156.2	NP_001309085.1	transcription factor 12 isoform h
NM_001322157.3	NP_001309086.1	transcription factor 12 isoform b
NM_001322158.2	NP_001309087.1	transcription factor 12 isoform i
NM_001322159.3	NP_001309088.1	transcription factor 12 isoform a
NM_001322161.2	NP_001309090.1	transcription factor 12 isoform k
NM_001322162.2	NP_001309091.1	transcription factor 12 isoform a
NM_001322164.2	NP_001309093.1	transcription factor 12 isoform j
NM_001322165.2	NP_001309094.1	transcription factor 12 isoform b
NM_003205.4	NP_003196.1	transcription factor 12 isoform b
NM_207036.2	NP_996919.1	transcription factor 12 isoform a
NM_207037.2	NP_996920.1	transcription factor 12 isoform a
NM_207038.2	NP_996921.1	transcription factor 12 isoform b
NM_207040.2	NP_996923.1	transcription factor 12 isoform c

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11802795	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	11802795	GOA
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	21828274	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11802795	GOA
enables SMAD binding	IPI IPI: Inferred from physical interaction	21828274	GOA
enables bHLH transcription factor binding	IPI IPI: Inferred from physical interaction	21828274	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9824680	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
contributes to transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	11802795	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11802795	GOA
involved in response to gonadotropin-releasing hormone	IMP IMP: Inferred from mutant phenotype	32620954	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of RNA polymerase II transcription regulator complex	IDA IDA: Inferred from direct assay	11802795	GOA
located in chromatin	IDA IDA: Inferred from direct assay	21828274	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	21828274	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21828274	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TCF12 Protein Structure

HLH

0
200
400
600
682 a.a.

Protein Preferred Names	Protein Names
transcription factor 12	DNA-binding protein HTF4

TCF12 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TCF12	Q99081	VPS28	Homo sapiens	Q548N1	Validated Y2H	25416956
Intra	TCF12	Q99081	ASCL4	Homo sapiens	Q6XD76	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	ASCL4	Homo sapiens	Q6XD76	Y2H Array	25416956
Intra	TCF12	Q99081	MORN4	Homo sapiens	Q8WVZ3	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	MORN4	Homo sapiens	Q8WVZ3	Validated Y2H	25416956
Intra	TCF12	Q99081	LYSMD1	Homo sapiens	Q96S90	Validated Y2H	25416956
Intra	TCF12	Q99081	LYSMD1	Homo sapiens	Q96S90	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	HOPX	Homo sapiens	Q9BPY8	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	NEUROG3	Homo sapiens	Q9Y4Z2	Y2H Array	31515488
Intra	TCF12	Q99081	NEUROG3	Homo sapiens	Q9Y4Z2	Validated Y2H	25416956
Intra	TCF12	Q99081	ARMC8	Homo sapiens	Q8IUR7	Y2H Array	25416956
Intra	TCF12	Q99081	ARMC8	Homo sapiens	Q8IUR7	Validated Y2H	25416956
Intra	TCF12	Q99081	ID3	Homo sapiens	Q02535	Y2H Array	25416956
Intra	TCF12	Q99081	TAL1	Homo sapiens	P17542	Y2H	9824680
Intra	TCF12	Q99081	TWIST2	Homo sapiens	Q8WVJ9	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	TSNAX	Homo sapiens	Q99598	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	TSNAX	Homo sapiens	Q99598	Y2H Array	25416956
Intra	TCF12	Q99081	TRIM72	Homo sapiens	Q6ZMU5	Validated Y2H	25416956
Cross	TCF12	Q99081	P0DTD1-PRO_0000449629	SARS-CoV-2	P0DTD1-PRO_0000449629	Y2H Array	36217030
Intra	TCF12	Q99081	CRCP	Homo sapiens	O75575	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	QARS1	Homo sapiens	P47897	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	QARS1	Homo sapiens	P47897	Y2H Array	25416956
Intra	TCF12	Q99081	PSMA1	Homo sapiens	P25786	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	PSMA1	Homo sapiens	P25786	Validated Y2H	25416956
Intra	TCF12	Q99081	PSMA1	Homo sapiens	P25786	Y2H Array	25416956
Intra	TCF12	Q99081	NAGK	Homo sapiens	Q9UJ70	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	NAGK	Homo sapiens	Q9UJ70	Y2H Array	25416956
Intra	TCF12	Q99081	HEXIM2	Homo sapiens	Q96MH2	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	HEXIM2	Homo sapiens	Q96MH2	Validated Y2H	25416956
Intra	TCF12	Q99081	CDKN2C	Homo sapiens	P42773	Y2H Array	31515488
Intra	TCF12	Q99081	BMERB1	Homo sapiens	Q96MC5	Y2H Array	25416956
Intra	TCF12	Q99081	BMERB1	Homo sapiens	Q96MC5	Validated Y2H	25416956
Intra	TCF12	Q99081	BMERB1	Homo sapiens	Q96MC5	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	25416956
Intra	TCF12	Q99081	SPG21	Homo sapiens	Q9NZD8	Y2H Array	31515488
Intra	TCF12	Q99081	SPG21	Homo sapiens	Q9NZD8	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	CFAP206	Homo sapiens	Q8IYR0	Validated Y2H	25416956
Intra	TCF12	Q99081	STK16	Homo sapiens	O75716	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	STK16	Homo sapiens	O75716	Y2H Array	25416956
Intra	TCF12	Q99081	STAT5A	Homo sapiens	P42229	Y2H Array	25416956
Intra	TCF12	Q99081	STAT5A	Homo sapiens	P42229	Validated Y2H	25416956
Intra	TCF12	Q99081	SRI	Homo sapiens	P30626	Validated Y2H	25416956
Intra	TCF12	Q99081	SRI	Homo sapiens	P30626	Y2H Prey Pooling	25416956
Intra	TCF12	Q99081	OSGIN1	Homo sapiens	Q9UJX0	Y2H Array	31515488
Intra	TCF12	Q99081	OSGIN1	Homo sapiens	Q9UJX0	Validated Y2H	25416956
Intra	TCF12	Q99081	OSGIN1	Homo sapiens	Q9UJX0	Y2H Array	25416956
Intra	TCF12	Q99081	MAPKBP1	Homo sapiens	O60336	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Craniosynostosis 3	CRS3 Craniosynostosis, Type 3
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	HH26
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Non-Syndromic Bicoronal Craniosynostosis	Isolated Bicoronal Craniosynostosis Isolated Brachycephaly Non-Syndromic Bilateral Coronal Suture Synostosis
Chondrosarcoma, Extraskeletal Myxoid	Extraskeletal Myxoid Chondrosarcoma Emc Myxoid Extraosseous Chondrosarcoma
Muenke Syndrome	Muenke Nonsyndromic Coronal Craniosynostosis Fgfr3-Related Craniosynostosis Fgfr3-Associated Coronal Synostosis Coronal Craniosynostosis MNKES Syndrome Of Coronal Craniosynostosis MNKS Fgfr3-Related Isolated Coronal Synostosis Muenke Non-Syndromic Coronal Craniosynostosis
Saethre-Chotzen Syndrome	SCS Acs3 Acs Iii Chotzen Syndrome Acrocephaly, Skull Asymmetry, And Mild Syndactyly Acrocephalosyndactyly Type 3 Acrocephalosyndactyly, Type Iii Acrocephalosyndactyly Type Iii Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies Auralcephalosyndactyly Acs 3 Acrocephalo-Syndactyly, Type 3 Blepharophimosis,Epicanthus Inversus, And Ptosis 3 Aural Cephalosyndactyly Kurczynski-Casperson Syndrome Acrocephalosyndactyly Iii Dysostosis Craniofacialis With Hypertelorism Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies Sakati Syndrome
Myasthenic Syndrome, Congenital, 19	Congenital Myasthenic Syndrome 19 CMS19 Myasthenic Syndrome, Congenital, Type 19
Synostosis
Extraosseous Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma
Tylosis With Esophageal Cancer	Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome TOC Keratosis Palmaris Et Plantaris With Esophageal Cancer Bennion-Patterson Syndrome Howell-Evans Syndrome Keratosis Palmoplantaris-Esophageal Carcinoma Syndrome Palmoplantar Hyperkeratosis-Esophageal Carcinoma Syndrome Tylosis-Oesophageal Carcinoma Syndrome Palmoplantar Keratoderma With Esophageal Cancer Howel-Evans Syndrome Keratosis Palmoplantaris With Esophageal Cancer Tylosis - Oesophageal Carcinoma Howel-Evans' Syndrome
Pitt-Hopkins Syndrome	PTHS Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea Pitt Hopkins Syndrome Phs Encephalopathy Severe Epileptic With Autonomic Dysfunction
Developmental And Epileptic Encephalopathy 54	DEE54 Epileptic Encephalopathy, Early Infantile, 54 Eiee54 Developmental And Epileptic Encephalopathy, 54 Early Infantile Epileptic Encephalopathy 54 Encephalopathy, Epileptic, Early Infantile, Type 54
Exposure Keratitis	Exposure Keratoconjunctivitis Lagophthalmic Keratitis
Apert Syndrome	Acrocephalosyndactyly Type I Acs1 Acrocephalosyndactylia Acrocephalosyndactyly Acs I Apert-Crouzon Disease Acrocephalosyndactyly Type 1 Acrocephalosyndactyly, Type I Acs 1 Acrocephalo-Syndactyly Type 1 Syndactylic Oxycephaly Apert'S Syndrome Type I Acrocephalosyndactyly APRS
Oligodendroglioma	Oligodendroglial Neoplasm Oligodendroglial Tumor Oligodendroglial Tumors Well Differentiated Oligodendroglioma
Congenital Disorder Of Glycosylation, Type Iim	CDG2M Congenital Disorder Of Glycosylation Type Iim Slc35a2-Cdg Epileptic Encephalopathy, Early Infantile, 22 Cdg-Iim Cdg Iim Cdgiim Developmental And Epileptic Encephalopathy 22 Eiee22 Congenital Disorder Of Glycosylation Type 2m Cdg Syndrome Type Iim Dee22 Slc35a2-Congenital Disorder Of Glycosylation Epileptic Encephalopathy, Early Infantile, 22 Eiee22 Congenital Disorder Of Glycosylation 2m Congenital Disorder Of Glycosylation X-Linked Glycosylation, Congenital Disorder Of, Type Iim
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Dyslexia
Crouzon Syndrome	Crouzon Craniofacial Dysostosis Craniofacial Dysostosis Cfd1 Craniofacial Dysostosis Type 1 Crouzon Disease Crouzon'S Disease Craniofacial Dysostosis, Type I Craniofacial Dysarthrosis Craniofacial Dysostosis Syndrome CS Craniofacial Dysostosis Type I Vogt Cephalosyndactyly
Craniofrontonasal Syndrome	Craniofrontonasal Dysplasia CFNS Cfnd Craniofrontonasal Dysostosis Craniofrontonasal Dystosis Dysplasia, Craniofrontonasal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14299	TCF12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21063	Tcf12 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27580	Tcf12 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TCF12	VGNC	VGNC:78283
Rattus norvegicus	TCF12	RGD	RGD:3829
Mus musculus	TCF12	MGD	MGI:101877
Bos taurus	TCF12	VGNC	VGNC:35686
Canis familiaris	TCF12	VGNC	VGNC:47189
Felis catus	TCF12	VGNC	VGNC:66021
Others	TCF12	NCBI