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  2. PHF10 - PHD finger protein 10 Gene

PHF10 - PHD finger protein 10 Gene

中文名称:PHD 指蛋白 10

种属: Homo sapiens

同用名: BAF45A; XAP135; SMARCG4

基因 ID: 55274 | 基因类型: protein coding

关于 PHF10

Cytogenetic location: 6q27 Genomic coordinates (GRCh38): 6:169,703,902-169,724,500 (from NCBI)

This gene has 6 transcripts (splice variants), 210 orthologues and 9 paralogues. Ubiquitous expression in adrenal (RPKM 31.1), ovary (RPKM 25.5) and 25 other tissues.

功能概要

该基因包含一个预测的 ORF,该 ORF 编码具有两个锌指结构域的蛋白质。所编码蛋白质的功能尚不清楚。序列分析表明,多个选择性剪接的转录本变体源自该基因,但只有其中两个的全长性质是已知的。这两个剪接变体编码不同的异构体。该基因的假基因位于 Xq28。[RefSeq 提供,2008 年 7 月]

This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]

PHF10 基因产物(2)

mRNA Protein Name
NM_018288.4 NP_060758.2 PHD finger protein 10 isoform a
NM_133325.3 NP_579866.2 PHD finger protein 10 isoform b
基因本体论
  • 分子功能
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
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

PHF10 蛋白结构

PHD

PHD: PHD-finger (436 - 480)

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

PHD finger protein 10

BRG1-associated factor 45a

关联疾病

疾病名称 别名
Chromosome 6q24-Q25 Deletion Syndrome

Chromosome 6q25-Q25 Deletion Syndrome

6q25 Microdeletion Syndrome

Monosomy 6q25

Del(6)(Q25)

Spinal Meningioma

Spinal Cord Meningioma

Meningioma, Spine

Meningioma

Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma
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]

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

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

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

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

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
Macaca mulatta PHF10 VGNC VGNC:75826
Rattus norvegicus PHF10 RGD RGD:1305266
Bos taurus PHF10 VGNC VGNC:32813
Canis familiaris PHF10 VGNC VGNC:44480
Mus musculus PHF10 MGD MGI:1919307
Felis catus PHF10 VGNC VGNC:64137