1. Gene
  2. HDAC4 - histone deacetylase 4 Gene

HDAC4 - histone deacetylase 4 Gene

中文名称:组蛋白脱乙酰酶 4

种属: Homo sapiens

同用名: HD4; AHO3; BDMR; HDACA; HA6116; HDAC-4; HDAC-A; NEDCHF; NEDCHID

基因 ID: 9759 | 基因类型: protein coding

关于 HDAC4

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:239,048,168-239,401,649 (from NCBI)

This gene has 18 transcripts (splice variants), 263 orthologues, 10 paralogues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 2.4), testis (RPKM 1.6) and 24 other tissues.

功能概要

组蛋白在转录调控、细胞周期进程和发育事件中发挥关键作用。组蛋白乙酰化/去乙酰化改变染色体结构并影响转录因子对 DNA 的访问。该基因编码的蛋白质属于组蛋白脱乙酰酶/acuc/apha 家族的 II 类。它具有组蛋白脱乙酰酶活性,并在连接到启动子时抑制转录。这种蛋白质不直接结合 DNA,而是通过转录因子 MEF2C 和 MEF2D。它似乎与 RbAp48 和 HDAC3 在多蛋白复合物中相互作用。[RefSeq 提供,2008 年 7 月]

Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]

HDAC4 基因产物(42)

mRNA Protein Name
XM_006712877.4 XP_006712940.1 histone deacetylase 4 isoform X2
XM_047446498.1 XP_047302454.1 histone deacetylase 4 isoform X29
XM_047446487.1 XP_047302443.1 histone deacetylase 4 isoform X18
XM_047446493.1 XP_047302449.1 histone deacetylase 4 isoform X24
XM_047446497.1 XP_047302453.1 histone deacetylase 4 isoform X28
XM_011512224.3 XP_011510526.1 histone deacetylase 4 isoform X11
XM_011512225.3 XP_011510527.1 histone deacetylase 4 isoform X13
XM_047446495.1 XP_047302451.1 histone deacetylase 4 isoform X26
XM_047446486.1 XP_047302442.1 histone deacetylase 4 isoform X17
XM_047446489.1 XP_047302445.1 histone deacetylase 4 isoform X20
XM_047446478.1 XP_047302434.1 histone deacetylase 4 isoform X8
XM_047446484.1 XP_047302440.1 histone deacetylase 4 isoform X14
XM_011512218.3 XP_011510520.1 histone deacetylase 4 isoform X3
XM_024453257.2 XP_024309025.1 histone deacetylase 4 isoform X19
XM_011512219.3 XP_011510521.1 histone deacetylase 4 isoform X4
XM_006712880.4 XP_006712943.1 histone deacetylase 4 isoform X19
XM_011512227.3 XP_011510529.1 histone deacetylase 4 isoform X23
XM_011512222.4 XP_011510524.1 histone deacetylase 4 isoform X6
XM_047446488.1 XP_047302444.1 histone deacetylase 4 isoform X19
XM_047446496.1 XP_047302452.1 histone deacetylase 4 isoform X27
XM_011512223.3 XP_011510525.1 histone deacetylase 4 isoform X6
XM_047446482.1 XP_047302438.1 histone deacetylase 4 isoform X14
NM_001378417.1 NP_001365346.1 histone deacetylase 4 isoform 2
XM_047446483.1 XP_047302439.1 histone deacetylase 4 isoform X14
NM_001378416.1 NP_001365345.1 histone deacetylase 4 isoform 2
XM_047446485.1 XP_047302441.1 histone deacetylase 4 isoform X15
XM_047446491.1 XP_047302447.1 histone deacetylase 4 isoform X21
NM_006037.4 NP_006028.2 histone deacetylase 4 isoform 2
XM_011512226.3 XP_011510528.1 histone deacetylase 4 isoform X17
XM_011512217.3 XP_011510519.1 histone deacetylase 4 isoform X1
XM_047446477.1 XP_047302433.1 histone deacetylase 4 isoform X7
XM_011512220.3 XP_011510522.1 histone deacetylase 4 isoform X5
XM_047446490.1 XP_047302446.1 histone deacetylase 4 isoform X20
XM_047446479.1 XP_047302435.1 histone deacetylase 4 isoform X9
XM_047446492.1 XP_047302448.1 histone deacetylase 4 isoform X22
XM_047446480.1 XP_047302436.1 histone deacetylase 4 isoform X10
XM_047446494.1 XP_047302450.1 histone deacetylase 4 isoform X25
XM_017005394.2 XP_016860883.1 histone deacetylase 4 isoform X16
NM_001378414.1 NP_001365343.1 histone deacetylase 4 isoform 1
NM_001378415.1 NP_001365344.1 histone deacetylase 4 isoform 1
XM_047446476.1 XP_047302432.1 histone deacetylase 4 isoform X6
XM_047446481.1 XP_047302437.1 histone deacetylase 4 isoform X12
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 DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
10983972 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
24413532 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
18850004 GOA
enables SUMO transferase activity EXP
EXP: 通过实验结果推断
17218271 GOA
contributes to histone binding IDA
IDA: 通过直接分析推断
19276356 GOA
enables histone deacetylase activity IDA
IDA: 通过直接分析推断
10220385 GOA
enables histone deacetylase binding IPI
IPI: 通过物理相互作用推断
10869435 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
17360518 GOA
enables molecular adaptor activity IDA
IDA: 通过直接分析推断
31127039 GOA
enables potassium ion binding IDA
IDA: 通过直接分析推断
18614528 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10869435 GOA
enables protein lysine deacetylase activity IDA
IDA: 通过直接分析推断
18614528 GOA
contributes to transcription cis-regulatory region binding IDA
IDA: 通过直接分析推断
18850004 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
18614528 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chromatin remodeling IDA
IDA: 通过直接分析推断
18850004 GOA
involved in negative regulation of DNA-binding transcription factor activity IMP
IMP: 通过突变表型推断
18850004 GOA
involved in negative regulation of gene expression, epigenetic IDA
IDA: 通过直接分析推断
10869435 GOA
involved in negative regulation of gene expression, epigenetic IMP
IMP: 通过突变表型推断
18850004 GOA
involved in negative regulation of myotube differentiation IMP
IMP: 通过突变表型推断
10983972 GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
16236793 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
10869435 GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II IGI
IGI: 通过遗传相互作用推断
15743821 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
18850004 GOA
involved in negative regulation of transcription by competitive promoter binding IMP
IMP: 通过突变表型推断
19276356 GOA
involved in peptidyl-lysine deacetylation IDA
IDA: 通过直接分析推断
18614528 GOA
involved in positive regulation of DNA-binding transcription factor activity IMP
IMP: 通过突变表型推断
19071119 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
18850004 GOA
involved in positive regulation of protein sumoylation IDA
IDA: 通过直接分析推断
17696781 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
19071119 GOA
involved in protein deacetylation IDA
IDA: 通过直接分析推断
27708256 GOA
involved in regulation of protein binding IMP
IMP: 通过突变表型推断
19071119 GOA
involved in response to interleukin-1 IMP
IMP: 通过突变表型推断
19281832 GOA
involved in type I interferon-mediated signaling pathway IDA
IDA: 通过直接分析推断
31127039 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
31127039 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
10869435 GOA
part of histone deacetylase complex IDA
IDA: 通过直接分析推断
11804585 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10869435 GOA
part of transcription repressor complex IDA
IDA: 通过直接分析推断
11804585 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

HDAC4 蛋白结构

HDAC4_Gln

HDAC4_Gln: Glutamine rich N terminal domain of histone deacetylase 4 (61 - 152)

Hist_deacetyl

Hist_deacetyl: Histone deacetylase domain (666 - 992)

Arb2

Arb2: Arb2 domain (1001 - 1036)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1084 a.a.
蛋白主名 其他名称

histone deacetylase 4

histone deacetylase A

关联疾病

疾病名称 别名
Muscle Hypertrophy

MSLHP

Hypertrophy, Muscle

Hypertrophy

Mature T-Cell And Nk-Cell Lymphoma

Mature T-Cell And Natural Killer Cell Lymphoma

Nk-T Cell Lymphoma

Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies

NEDCHF

Acrodysostosis

Acrodysplasia

Arkless-Graham Syndrome

Maroteaux-Malamut Syndrome

Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome

Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome

Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome

Broad Thumb-Hallux Syndrome

Chromosome 16p13.3 Deletion Syndrome

Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

Rubinstein Syndrome

Broad Thumbs-Halluces Syndrome

Rsts

Rubinstein-Taybi Deletion Syndrome

Rsts Deletion Syndrome

Proximal Chromosome 16p13.3 Deletion Syndrome

16p13.3 Deletion Syndrome

Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation

Rts

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Desmoplastic/Nodular Medulloblastoma

Medulloblastoma With Extensive Nodularity

Desmoplastic Medulloblastoma

Medulloblastoma, Somatic

Medulloblastoma, Desmoplastic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Mben

Medulloblastoma Desmoplastic

Neuroectodermal Tumors, Primitive

Medulloblastomas

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Myeloma, Multiple

Multiple Myeloma

Kahler Disease

Myelomatosis

Plasma Cell Myeloma

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler'S Disease

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Brachydactyly
Chromosome 2q37 Deletion Syndrome

Albright Hereditary Osteodystrophy-Like Syndrome

2q37 Microdeletion Syndrome

Brachydactyly-Intellectual Disability Syndrome

Deletion 2q37

2q37 Deletion Syndrome

Brachydactyly-Mental Retardation Syndrome

Bdmr

Albright Hereditary Osteodystrophy Type 3

Del(2)(Q37)

Monosomy 2q37qter

Albright'S Hereditary Osteodystrophy-Like Syndrome

Monosomy 2q37

Chromosome Deletion Syndrome 2q37

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Plasma Cell Neoplasm

Plasma Cell Dyscrasia

Paraproteinemias

Plasma Cell Tumour

Plasmacytic Tumor

Multiple Myeloma

Plasmacytoma

Plasma Cell Tumours

Plasma Cells Dyscrasia

Pseudohypoparathyroidism, Type Ia

Albright'S Hereditary Osteodystrophy

Albright Hereditary Osteodystrophy

Pseudohypoparathyroidism Type 1a

PHP1A

Albright Hereditary Osteodystrophy With Multiple Hormone Resistance

Pseudohypoparathyroidism Ia

AHO

Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy

Pseudo-Pseudohypoparathyroidism

Pseudohypoparathyroidism Type I A

Php Ia

Pseudopseudohypoparathyroidism

Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

Pphp

Pseudopseudo-Hypoparathyroidism

Aho-Php Syndrome Ia

Albright Hereditary Osteodystrophy-Php Syndrome Ia

Pseudohypoparathyroidism 1a

Pseudohypoparathyroidism

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
Rattus norvegicus HDAC4 RGD RGD:619979
Macaca mulatta HDAC4 VGNC VGNC:82155
Felis catus HDAC4 VGNC VGNC:62767
Mus musculus HDAC4 MGD MGI:3036234
Canis familiaris HDAC4 VGNC VGNC:50629
Bos taurus HDAC4 VGNC VGNC:50611