PHF21A - PHD finger protein 21A Gene

中文名称：PHD 指蛋白 21A

种属: Homo sapiens

同用名: BHC80; NEDMS; BM-006; IDDBCS

基因 ID: 51317 | 基因类型: protein coding

关于 PHF21A

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:45,929,319-46,121,454 (from NCBI)

This gene has 36 transcripts (splice variants), 235 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 7.2), ovary (RPKM 5.9) and 25 other tissues.

功能概要

PHF21A 基因编码 BHC80，它是 BRAF35 (MIM 605535) /组蛋白去乙酰化酶 (HDAC；参见 MIM 601241) 复合物 (BHC) 的一个组成部分，它通过称为阻遏物元件 1 的顺式调节元件介导对神经元特异性基因的抑制 ( RE1) 或神经限制性消音器 (NRS) (Hakimi 等人，2002 [PubMed 12032298]) 。[OMIM 提供，2010 年 11 月]

The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]

PHF21A 基因产物(10)

mRNA	Protein	Name
NM_001101802.3	NP_001095272.1	PHD finger protein 21A isoform a
NM_001352025.3	NP_001338954.1	PHD finger protein 21A isoform c
NM_001352026.3	NP_001338955.1	PHD finger protein 21A isoform c
NM_001352027.3	NP_001338956.1	PHD finger protein 21A isoform c
NM_001352028.1	NP_001338957.1	PHD finger protein 21A isoform b
NM_001352029.1	NP_001338958.1	PHD finger protein 21A isoform b
NM_001352030.3	NP_001338959.1	PHD finger protein 21A isoform 8
NM_001352031.3	NP_001338960.1	PHD finger protein 21A isoform d
NM_001352032.3	NP_001338961.1	PHD finger protein 21A isoform d
NM_016621.5	NP_057705.3	PHD finger protein 21A isoform b

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	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within negative regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	15325272	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of DNA repair complex	IDA IDA: 通过直接分析推断	24217620	GOA
part of histone deacetylase complex	IDA IDA: 通过直接分析推断	15325272	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

PHF21A 蛋白结构

AT_hook

PHD

0
200
400
600
680 a.a.

蛋白主名

其他名称

PHD finger protein 21A

BHC80a

关联疾病

疾病名称

别名

Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures

IDDBCS	Neurodevelopmental Disorder With Macrocephaly And With Or Without Seizures
Nedms

Potocki-Shaffer Syndrome

Proximal 11p Deletion Syndrome	Chromosome 11p11.2 Deletion Syndrome
Pss	11p11.2 Deletion
P11pds	Defect11 Syndrome
Deletion Of Chromosome 11p11.2	POSHS

Parietal Foramina

Enlarged Parietal Foramina	Hereditary Cranium Bifidum
Symmetric Parietal Foramina	Catlin Marks
Foramina Parietalia Permagna	Caitlin Marks
Cranium Bifidum	Cranium Bifidum Occultum
Fenestrae Parietals Symmetricae	Fpp
Giant Parietal Foramina	Pfm
Fenestrae Parietales Symmetricae	Foramina, Parietal

Frontonasal Dysplasia 2

FND2	Frontonasal Dysplasia With Alopecia And Genital Anomaly
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alx4-Related Fndag
Craniofrontonasal Dysplasia With Alopecia And Hypogonadism	Frontonasal Dysplasia Type 2
Frontonasal Dysplasia With Alopecia And Genital Abnomality	Doid:0081046
Dysplasia, Frontonasal, Type 2

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome	Ear, Patella, Short Stature Syndrome
Microtia, Absent Patellae, Micrognathia Syndrome	MGORS1
Eps	Ear-Patella-Short Stature Syndrome
Ear Patella Short Stature Syndrome	Microtia Absent Patellae Micrognathia Syndrome
Meier-Gorlin Syndrome, Type 1

Miles-Carpenter Syndrome

X-Linked Intellectual Disability, Miles-Carpenter Type	Mcs
Mental Retardation, X-Linked, Syndromic 4	Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches
Mrxs4	Miles-Carpenter X-Linked Mental Retardation Syndrome

Sotos Syndrome 3

Sotos3

Sotos Syndrome, Type 3

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Hepatic Venoocclusive Disease With Immunodeficiency

VODI	Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatic Veno-Occlusive Disease With Immunodeficiency	Familial Veno-Occlusive Disease With Immunodeficiency
Veno-Occlusive Disease And Immunodeficiency Syndrome	Vodi Syndrome
Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Kabuki Syndrome 1

Kabuki Syndrome	Niikawa-Kuroki Syndrome
Kabuki Make-Up Syndrome	Kms
KABUK1	Kabuki Make Up Syndrome
Nks	Kabuki Makeup Syndrome
Kabuki Syndrome, Type 1

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome	11p Partial Monosomy Syndrome
Chromosome 11p13 Deletion Syndrome	Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome
11p Deletion Syndrome	Chromosome 11p Deletion Syndrome
Wagr Complex	Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome
Deletion 11p13	WAGR
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome	Chromosome 11p Deletion
11p Deletion	11p Monosomy
Deletion 11p	Monosomy 11p
Partial Monosomy 11p	Agr Triad
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome
Wagr Contiguous Gene Syndrome	Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome	Del(11)(P13)
Monosomy 11p13	Chromosome 11, Deletion 11p

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10423	PHF21A 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	PHF21A	VGNC	VGNC:75855
Mus musculus	PHF21A	MGD	MGI:2384756
Canis familiaris	PHF21A	VGNC	VGNC:44487
Rattus norvegicus	PHF21A	RGD	RGD:1560612
Felis catus	PHF21A	VGNC	VGNC:64142
Bos taurus	PHF21A	VGNC	VGNC:32821

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PHF21A - PHD finger protein 21A Gene

关于 PHF21A

功能概要

PHF21A 基因产物(10)

PHF21A 蛋白结构

关联疾病

直系同源

热门区域

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PHF21A - PHD finger protein 21A Gene

关于 PHF21A

功能概要

PHF21A 基因产物(10)

PHF21A 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z