DPF2 - double PHD fingers 2 Gene

中文名称：双 PHD 手指 2

种属: Homo sapiens

同用名: REQ; CSS7; UBID4; ubi-d4; SMARCG2

基因 ID: 5977 | 基因类型: protein coding

关于 DPF2

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,333,852-65,354,262 (from NCBI)

This gene has 18 transcripts (splice variants), 227 orthologues, 9 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 23.7), ovary (RPKM 23.0) and 25 other tissues.

功能概要

该基因编码的蛋白质是 d4 结构域家族的成员，其特征是锌指状结构基序。这种蛋白质作为转录因子发挥作用，这是剥夺生存因子后细胞凋亡反应所必需的。它可能在快速造血细胞生长和更新中发挥调节作用。该基因被认为是 I 型多发性内分泌肿瘤的候选基因，这是一种涉及多发性甲状旁腺、肠胰腺和垂体肿瘤的遗传性癌症综合征。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited Cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008]

DPF2 基因产物(2)

mRNA	Protein	Name
NM_001330308.2	NP_001317237.1	zinc finger protein ubi-d4 isoform 2
NM_006268.5	NP_006259.1	zinc finger protein ubi-d4 isoform 1

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 H3K9me3 modified histone binding	IDA IDA: 通过直接分析推断	29429572	GOA
enables lysine-acetylated histone binding	IDA IDA: 通过直接分析推断	28533407	GOA
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
involved in negative regulation of myeloid progenitor cell differentiation	IMP IMP: 通过突变表型推断	28533407	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	28533407	GOA
located in nucleus	IDA IDA: 通过直接分析推断	29429572	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

DPF2 蛋白结构

Requiem_N

PHD

0
100
200
300
391 a.a.

蛋白主名

其他名称

zinc finger protein ubi-d4

BAF45D

DPF2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	DPF2	Q92785	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	DPF2	Q92785	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	DPF2	Q92785	TXNDC12	Homo sapiens	O95881	Y2H Array	32296183
Intra	DPF2	Q92785	TXNDC12	Homo sapiens	O95881	Y2H Prey Pooling	32296183
Intra	DPF2	Q92785	RUBCN	Homo sapiens	Q92622	Y2H Prey Pooling	32296183
Intra	DPF2	Q92785	RUBCN	Homo sapiens	Q92622	Y2H Array	32296183
Intra	DPF2	Q92785	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Array	32296183
Intra	DPF2	Q92785	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Prey Pooling	32296183
Intra	DPF2	Q92785	ZNF655	Homo sapiens	Q8N720	Y2H Prey Pooling	32296183
Intra	DPF2	Q92785	ZNF655	Homo sapiens	Q8N720	Y2H Array	32296183
Intra	DPF2	Q92785	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	DPF2	Q92785	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	DPF2	Q92785	RINT1	Homo sapiens	Q6NUQ1	Y2H Prey Pooling	32296183
Intra	DPF2	Q92785	RINT1	Homo sapiens	Q6NUQ1	Y2H Array	32296183
Intra	DPF2	Q92785	LDOC1	Homo sapiens	O95751	Validated Y2H	25416956
Intra	DPF2	Q92785	LDOC1	Homo sapiens	O95751	Y2H Prey Pooling	32296183
Intra	DPF2	Q92785	LDOC1	Homo sapiens	O95751	Y2H Array	32296183
Intra	DPF2	Q92785	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
Intra	DPF2	Q92785	PICK1	Homo sapiens	Q9NRD5	Y2H Array	32296183
Intra	DPF2	Q92785	PICK1	Homo sapiens	Q9NRD5	Y2H Prey Pooling	32296183
Intra	DPF2	Q92785	TTC23L	Homo sapiens	Q6PF05	Y2H Prey Pooling	32296183
Intra	DPF2	Q92785	TTC23L	Homo sapiens	Q6PF05	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Coffin-Siris Syndrome 7

CSS7	Coffin-Siris Syndrome, Type 7

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Multiple Endocrine Neoplasia

Men	Multiple Endocrine Adenomatosis
Multiple Endocrine Neoplasia Syndrome	Adenomatosis, Familial Endocrine
Endocrine Neoplasia, Multiple	Familial Endocrine Adenomatosis
Mea	Multiple Endocrine Neoplasms
Multiple Endocrine Neoplasia Type 1

Flinders Island Spotted Fever

Fisf	Thai Tick Typhus

Hypertrichosis

Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation	Autosomal Dominant Non-Syndromic Mental Retardation
Autosomal Dominant Non-Syndromic Intellectual Disability	Mental Retardation, Autosomal Dominant

Clark-Baraitser Syndrome

CLABARS	Baraitser Syndrome
Autosomal Dominant Intellectual Disability 49	Mental Retardation, Autosomal Dominant 49, Formerly
Mrd49, Formerly	Intellectual Developmental Disorder, Autosomal Dominant 49
Autosomal Dominant Mental Retardation 49	Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features
Mrd49	Progeria Short Stature Pigmented Nevi

Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1	MEN1
Wermer Syndrome	Multiple Endocrine Neoplasia 1
Multiple Endocrine Neoplasia, Type 1	Men I
Endocrine Adenomatosis, Multiple	Mea I
Men Type I	Wermer'S Syndrome
Men1 Syndrome	Multiple Endocrine Adenomatosis
Endocrine Adenomatosis Multiple	Men 1
Familial Multiple Endocrine Neoplasia Type I	Neoplasia, Endocrine, Multiple, Type 1
Multiple Endocrine Neoplasia

Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome	Brws
Cerebro-Frontofacial Syndrome, Type 3	Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability	Trigonocephaly Ptosis Coloboma
Trigonocephaly Ptosis Intellectual Disability	Cerebrofrontofacial Syndrome Type 3

Chromosome 6q24-Q25 Deletion Syndrome

Chromosome 6q25-Q25 Deletion Syndrome	6q25 Microdeletion Syndrome
Monosomy 6q25	Del(6)(Q25)

Neurilemmomatosis

Schwannomatosis	Neurofibromatosis Type 3
Nf3	Neurilemmomatosis Congenital Cutaneous
Neurinomatosis	Congenital Cutaneous Neurilemmomatosis
Multiple Neurilemmomas	Multiple Schwannomas
Neurilemmomatosis, Congenital Cutaneous	Schwannomatosis 1
Neurofibromatosis 3	Mixed Central And Peripheral Neurofibromatosis
Nf3 - [Neurofibromatosis Type 3]

Kbg Syndrome

KBGS	Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies	Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome	Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

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-RS03950	DPF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	DPF2	VGNC	VGNC:40066
Macaca mulatta	DPF2	VGNC	VGNC:72034
Bos taurus	DPF2	VGNC	VGNC:28176
Rattus norvegicus	DPF2	RGD	RGD:1311699
Felis catus	DPF2	VGNC	VGNC:69290
Mus musculus	DPF2	MGD	MGI:109529

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