1. Gene
  2. PRDM12 - PR/SET domain 12 Gene

PRDM12 - PR/SET domain 12 Gene

中文名称:PR/SET 域 12

种属: Homo sapiens

同用名: PFM9; HSAN8

基因 ID: 59335 | 基因类型: protein coding

关于 PRDM12

Cytogenetic location: 9q34.12 Genomic coordinates (GRCh38): 9:130,664,594-130,682,983 (from NCBI)

This gene has 2 transcripts (splice variants), 178 orthologues, 28 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码感觉神经元规范的转录调节因子,在疼痛感知中起着关键作用。编码的蛋白质包含一个 N 端 PRDI-BF1 和 RIZ 同源 (PR) 结构域、一个 SET 结构域和三个 C 端 C2H2 锌指 DNA 结合结构域。该基因中自然发生的突变与先天性痛觉不敏感 (CIP) 以及影响外周感觉和自主神经元的遗传性感觉和自主神经病 (HSAN) 相关。该基因的失调与实体癌和血液恶性肿瘤 (包括慢性粒细胞白血病) 有关。[RefSeq 提供,2017 年 3 月]

This gene encodes a transcriptional regulator of sensory neuronal specification that plays a critical role in pain perception. The encoded protein contains an N-terminal PRDI-BF1 and RIZ homology (PR) domain, a SET domain, and three C-terminal C2H2 zinc finger DNA-binding domains. Naturally occurring mutations in this gene are associated with congenital insensitivity to pain (CIP), and hereditary sensory and autonomic neuropathies (HSAN's) affecting peripheral sensory and autonomic neurons. Deregulation of this gene is associated with solid cancers and hematological malignancies including chronic myeloid leukaemia. [provided by RefSeq, Mar 2017]

PRDM12 基因产物(1)

mRNA Protein Name
NM_021619.3 NP_067632.2 PR domain zinc finger protein 12
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 histone chaperone activity IDA
IDA: 通过直接分析推断
26005867 GOA
enables histone methyltransferase binding IDA
IDA: 通过直接分析推断
26005867 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within detection of temperature stimulus involved in sensory perception of pain IMP
IMP: 通过突变表型推断
26005867 GOA
acts upstream of or within neuron projection development IMP
IMP: 通过突变表型推断
26005867 GOA
acts upstream of or within protein methylation IDA
IDA: 通过直接分析推断
26005867 GOA
acts upstream of or within sensory perception of pain IMP
IMP: 通过突变表型推断
26005867 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
26005867 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

PRDM12 蛋白结构

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (257 - 281)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (286 - 309)

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

PR domain zinc finger protein 12

PR domain containing 12

关联疾病

疾病名称 别名
Neuropathy, Hereditary Sensory And Autonomic, Type Viii

HSAN8

Hsan Viii

Hereditary Sensory And Autonomic Neuropathy Type 8

Hereditary Sensory And Autonomic Neuropathy Type Viii

Neuropathy, Hereditary Sensory And Autonomic, 8

Neuropathy, Sensory And Autonomic, Hereditary, Type Viii

Neuropathy, Hereditary Sensory And Autonomic, Type Vii

Hereditary Sensory And Autonomic Neuropathy Type 7

HSAN7

Hereditary Sensory And Autonomic Neuropathy Type Vii

Hsan Vii

Cip With Hyperhidrosis And Gastrointestinal Dysfunction

Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction

Hsan With Hyperhidrosis And Gastrointestinal Dysfunction

Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction

Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis

Neuropathy, Hereditary Sensory And Autonomic, 7

Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis

Neuropathy, Sensory And Autonomic, Hereditary, Type Vii

Neuropathy, Hereditary Sensory And Autonomic, Type Vi

Hereditary Sensory And Autonomic Neuropathy Type 6

HSAN6

Hsan Vi

Hereditary Sensory And Autonomic Neuropathy Type Vi

Familial Dysautonomia With Contractures

Neuropathy, Hereditary Sensory And Autonomic, 6

Hereditary Sensory Neuropathy Type Vi

Hsn Vi

Neuropathy, Sensory And Autonomic, Hereditary, Type Vi

Factitious Disorder

Munchausen Syndrome

Factitious Disorders

Münchausen Syndrome

Autonomic Neuropathy

Diabetic Autonomic Neuropathy

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Familial Dysautonomia, Type Ii

Hsan

Sensory Neuropathy Hereditary

Neuropathy, Sensory And Autonomic, Hereditary

Neuropathy, Sensory, Hereditary

Sensory Neuropathy, Hereditary

Charcot-Marie-Tooth Disease

Cmt - [Charcot-Marie-Tooth Disease]

Neuropathy, Hereditary Sensory And Autonomic, Type V

HSAN5

Hereditary Sensory And Autonomic Neuropathy Type V

Hsan V

Hereditary Sensory And Autonomic Neuropathy Type 5

Congenital Insensitivity To Pain

Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers

Hsan Type V

Insensitivity To Pain, Congenital

Hereditary Sensory And Autonomic Neuropathy, Type 5

Congenital Insensitivity To Pain And Thermal Analgesia

Neuropathy, Hereditary Sensory And Autonomic, 5

Hereditary Sensory Neuropathy Type V

Hsn V

Pain Insensitivity, Congenital

Neuropathy, Sensory And Autonomic, Hereditary, Type V

Hereditary Sensory Autonomic Neuropathy, Type 5

Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]

Episodic Pain Syndrome, Familial, 3

FEPS3

Familial Episodic Pain Syndrome With Predominantly Lower Limb Involvement

Familial Episodic Pain Syndrome 3

Anhidrosis

Hypohidrosis

Absence Of Sweating

Adiaphoresis

Impaired Sweating

Oligohidrosis

Vasomotor Rhinitis

Rhinitis, Vasomotor

Rhinitis Vasomotor

Vmr - [Vasomotor Rhinitis]

Paroxysmal Extreme Pain Disorder

PEPD

Familial Rectal Pain

Pexpd

Submandibular, Ocular, And Rectal Pain With Flushing

Pain, Submandibular, Ocular, And Rectal, With Flushing

Rectal Pain, Familial

Submandibular, Ocular And Rectal Pain With Flushing

Familial Rectal Syndrome

Frp

Pain Disorder, Paroxysmal, Extreme

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

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
Canis familiaris PRDM12 VGNC VGNC:55789
Bos taurus PRDM12 VGNC VGNC:33290
Rattus norvegicus PRDM12 RGD RGD:1586401
Mus musculus PRDM12 MGD MGI:2685844
Felis catus PRDM12 VGNC VGNC:102970