2. Gene
  3. TCF12 - transcription factor 12 Gene

TCF12 - transcription factor 12 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：转录因子 12

种属: Homo sapiens

同用名: HEB; p64; CRS3; HH26; HTF4; TCF-12; bHLHb20; HsT17266

基因 ID: 6938 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是基本螺旋-环-螺旋 (bHLH) E 蛋白家族的成员，可识别共有结合位点 (E-box) CANNTG。这种编码的蛋白质在许多组织中表达，其中包括骨骼肌、胸腺、B 细胞和 T 细胞，并且可能通过与其他 bHLH E 蛋白形成异二聚体来参与调节谱系特异性基因表达。已经描述了该基因的几种可变剪接的转录本变体，但尚未确定其中一些变体的全长性质。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

TCF12 蛋白结构

HLH

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

  • 0
  • 200
  • 400
  • 600
  • 682 a.a.
蛋白主名 其他名称

transcription factor 12

DNA-binding protein HTF4

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14299 TCF12 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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