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  2. EBF3 - EBF transcription factor 3 Gene

EBF3 - EBF transcription factor 3 Gene

中文名称:EBF 转录因子 3

种属: Homo sapiens

同用名: COE3; OE-2; EBF-3; HADDS; O/E-2

基因 ID: 253738 | 基因类型: protein coding

关于 EBF3

Cytogenetic location: 10q26.3 Genomic coordinates (GRCh38): 10:129,835,233-129,964,274 (from NCBI)

This gene has 5 transcripts (splice variants), 218 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in fat (RPKM 8.2), lymph node (RPKM 3.7) and 12 other tissues.

功能概要

该基因编码早期 B 细胞因子 (EBF) DNA 结合转录因子家族的成员。 EBF 蛋白参与 B 细胞分化、骨骼发育和神经发生,并且还可能起到肿瘤抑制因子的作用。编码的蛋白质通过调节参与细胞周期停滞和细胞凋亡的基因来抑制细胞存活,并且该基因的异常甲基化或缺失可能在多种恶性肿瘤中起作用,包括多形性胶质母细胞瘤和胃癌。[RefSeq 提供,2011 年 9 月]

This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and Apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]

EBF3 基因产物(7)

mRNA Protein Name
NM_001005463.3 NP_001005463.1 transcription factor COE3 isoform 6
NM_001375379.1 NP_001362308.1 transcription factor COE3 isoform 2
NM_001375380.1 NP_001362309.1 transcription factor COE3 isoform 1
NM_001375389.1 NP_001362318.1 transcription factor COE3 isoform 3
NM_001375390.1 NP_001362319.1 transcription factor COE3 isoform 4
NM_001375391.1 NP_001362320.1 transcription factor COE3 isoform 5
NM_001375392.1 NP_001362321.1 transcription factor COE3 isoform 7
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
28017370 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
28017373 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

EBF3 蛋白结构

TIG

TIG: IPT/TIG domain (263 - 345)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 596 a.a.
蛋白主名 其他名称

transcription factor COE3

early B cell factor 3

关联疾病

疾病名称 别名
Hypotonia, Ataxia, And Delayed Development Syndrome

HADDS

Neurogenic Bladder

Neurogenic Dysfunction Of The Urinary Bladder

Neurogenic Urinary Bladder Disorder

Neuropathic Bladder

Bladder Neurogenic

Urinary Bladder, Neurogenic

Neurogenic Urinary Bladder

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Urinary Tract Infection

Urinary Tract Infections

Uti

Urinary Tract Infection Nos

Uti - [Urinary Tract Infection]

Uti Nos - [Urinary Tract Infection Nos]

Urosepsis Nos

E Coli Uti

E Coli Urinary Tract Infection

Escherichia Coli Uti

Rare Disease With Pierre Robin Syndrome
Pierre Robin Syndrome

Pierre Robin Sequence

Glossoptosis, Micrognathia, And Cleft Palate

Pierre Robin Syndrome Skeletal Dysplasia Polydactyly

Pierre-Robin Syndrome

Isolated Pierre Robin Sequence

Isolated Pierre-Robin Syndrome

PRBNS

Robin Sequence

Robin Syndrome

Isolated Pierre Robin Syndrome

Urinary Tract Infections, Recurrent

Recurrent Urinary Tract Infections

Urinary Tract Infections, Recurrent, Susceptibility To

Urinary Tract Infection Recurrent

Recurrent Urinary Tract Infection

Hypotonia
Constipation
Renal Tubular Dysgenesis

Primitive Renal Tubule Syndrome

RTD

Renal Tubular Dysgenesis Of Genetic Origin

Allanson Pantzar Mcleod Syndrome

Renotubular Dysgenesis

Dysgenesis, Renal Tubular

Primitive Kidney Tubule Syndrome

Moebius Syndrome

Mobius Syndrome

Moebius Sequence

Oromandibular-Limb Hypogenesis Spectrum

Congenital Facial Diplegia

MBS

Moebius Congenital Oculofacial Paralysis

Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves

Congenital Facial Diplegia Syndrome

Congenital Oculofacial Paralysis

Congenital Ophthalmoplegia And Facial Paresis

Moebius Spectrum

Möbius Sequence

Möbius Syndrome

Mobius Ii Syndrome

Corpus Callosum, Agenesis Of, With Abnormal Genitalia

Proud Syndrome

Corpus Callosum Agenesis-Abnormal Genitalia Syndrome

Acc With Abnormal Genitalia

Proud-Levine-Carpenter Syndrome

Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome

Corpus Callosum Agenesis With Abnormal Genitalia

New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum

Proud Levine Carpenter Syndrome

Acc-Abnormal Genitalia Syndrome

Agenesis Of The Corpus Callosum, With Abnormal Genitalia

ACCAG

Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia

Congenital Neurologic Anomalies

17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

17-Ksr Deficiency

Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency

Pseudohermaphroditism, Male, With Gynecomastia

17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency

Testosterone 17-Beta-Dehydrogenase Deficiency

17-Ketosteroid Reductase Deficiency Of Testis

17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

17-Ketoreductase Deficiency

17-Ketosteroidreductase Deficiency

46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

Male Pseudohermaphroditism With Gynecomastia

17 Alpha Ksr Deficiency

17 Alpha Ketosteroid Reductase Deficiency Of Testis

17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Male Pseudoherma-Phroditism With Gynecomastia

Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency

Male Pseudohermaphrodism With Gynecomastia

MPH

17-Hydroxysteroid Dehydrogenase Deficiency

Bird Fancier'S Lung

Bird Fancier Lung

Pigeon Breeder'S Lung

Avian Hypersensitivity Pneumonitis

Bird Breeder'S Lung

Bird-Fancier'S Lung

Bird-Fanciers' Lung

Poultry Worker'S Lung

Pigeon-Breeder Lung Disease

Pigeon Breeders Lung

Avian Protein Hypersensitivity

Bird Breeders' Disease

Bird Breeders' Lung

Bird Fanciers' Lung

Bird Fanciers' Disease

Bfl - [Bird Fancier Lung]

Fanciers' Disease

Fanciers' Lung

Hypermobility Of Coccyx

Coccygeal Hypermobility Syndrome

Hypermobility Of The Coccyx

Anus Benign Neoplasm

Anal Neoplasm

Anal Tumors

Neoplasm Of Anus

Anus Neoplasms

Urofacial Syndrome 1

Urofacial Syndrome

Ochoa Syndrome

Hydronephrosis With Peculiar Facial Expression

Ufs

Inverted Smile And Occult Neuropathic Bladder

Partial Facial Palsy With Urinary Abnormalities

UFS1

Urofacial Ochoa'S Syndrome

Urofacial Syndrome Type 1

Facial Palsy, Partial, With Urinary Abnormalities

Hydronephrosis-Inverted Smile

Inverted Smile-Neurogenic Bladder

Hydronephrosis-Inverted Smile Syndrome

Inverted Smile-Neurogenic Bladder Syndrome

Partial Facial Palsy Partial With Urinary Abnormalities

Urologic Diseases

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus EBF3 MGD MGI:894289
Bos taurus EBF3 VGNC VGNC:97263
Rattus norvegicus EBF3 RGD RGD:1304956
Canis familiaris EBF3 VGNC VGNC:49730
Macaca mulatta EBF3 VGNC VGNC:71862
Felis catus EBF3 VGNC VGNC:97407
Others EBF3 NCBI