2. Gene
  3. TCF12 - transcription factor 12 Gene

TCF12 - transcription factor 12 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 6938 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

HLH: Helix-loop-helix DNA-binding domain (578 - 631)

  • 0
  • 200
  • 400
  • 600
  • 682 a.a.
Protein Preferred Names Protein Names

transcription factor 12

DNA-binding protein HTF4

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14299 TCF12 Human Pre-designed siRNA Set A Pre-designed Sets / 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