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  2. MORC2 - MORC family CW-type zinc finger 2 Gene

MORC2 - MORC family CW-type zinc finger 2 Gene

中文名称:MORC 家族 CW 型锌指 2

种属: Homo sapiens

同用名: ZCW3; CMT2Z; DIGFAN; ZCWCC1

基因 ID: 22880 | 基因类型: protein coding

关于 MORC2

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:30,925,130-30,968,774 (from NCBI)

This gene has 17 transcripts (splice variants), 216 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in testis (RPKM 20.8), ovary (RPKM 5.3) and 24 other tissues.

功能概要

该基因编码 Microrchidia (MORC) 蛋白超家族的成员。已知编码的蛋白质可调节异染色质的浓缩以响应 DNA 损伤,并在抑制转录中发挥作用。已发现该蛋白质通过与脂肪生成乳腺癌细胞胞质溶胶中的 ATP 柠檬酸裂解酶的特异性相互作用来调节 ATP 柠檬酸裂解酶的活性。该蛋白质还在脂肪生成和脂肪细胞分化中发挥作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2016 年 2 月]

This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP Citrate Lyase via specific interaction with this enzyme in the cytosol of lipogenic breast Cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]

MORC2 基因产物(3)

mRNA Protein Name
NM_001303256.3 NP_001290185.1 ATPase MORC2 isoform 1
NM_001303257.2 NP_001290186.1 ATPase MORC2 isoform 2
NM_014941.3 NP_055756.1 ATPase MORC2 isoform 3
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 ATP binding IDA
IDA: 通过直接分析推断
29440755 GOA
enables ATP hydrolysis activity IDA
IDA: 通过直接分析推断
23260667 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
23260667 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
29440755 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
29440755 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
29440755 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
29440755 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
23260667 GOA
located in heterochromatin IDA
IDA: 通过直接分析推断
28581500 GOA
located in nuclear matrix IDA
IDA: 通过直接分析推断
23260667 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23260667 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

MORC2 蛋白结构

HATPase_c_3

HATPase_c_3: Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (30 - 141)

zf-CW

zf-CW: CW-type Zinc Finger (495 - 542)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1032 a.a.
蛋白主名 其他名称

ATPase MORC2

zinc finger CW-type coiled-coil domain protein 1

关联疾病

疾病名称 别名
Charcot-Marie-Tooth Disease, Axonal, Type 2z

CMT2Z

Charcot-Marie-Tooth Disease Axonal Type 2z

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2z

Charcot-Marie-Tooth Neuropathy, Type 2z

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2z

Charcot-Marie-Tooth Neuropathy Type 2z

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Morc2 Mutation

Charcot-Marie-Tooth Disease 2z

Charcot-Marie-Tooth Disease, Type 2z

Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy

DIGFAN

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Axonal Neuropathy
Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

CMTX3

Charcot-Marie-Tooth Disease X-Linked Recessive 3

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3

Cmt3x

X-Linked Charcot-Marie-Tooth Disease Type 3

Charcot-Marie-Tooth Neuropathy X-Linked Recessive 3

Charcot-Marie-Tooth Disease, X-Linked Type 3, Recessive

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Lynch Syndrome I

Lynch Syndrome 1

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

HNPCC1

Fcc1

Lynch Syndrome Ii

Colon Cancer, Familial Nonpolyposis, Type 1

Coca1

Familial Nonpolyposis Colon Cancer Type 1

Hereditary Nonpolyposis Colorectal Cancer Type 1

Hereditary Non-Polyposis Colorectal Cancer 1

Hereditary Non-Polyposis Colorectal Cancer 3

Hnpcc3

Lynch Cancer Family Syndrome

Lynch Syndrome

Lynch Syndrome Type I

Lynch Syndrome Type Ii

Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1

Hereditary Nonpolyposis Colorectal Cancer

Colorectal Cancer, Hereditary Nonpolyposis, Type 3

Hereditary Non-Polyposis Colon Cancer Type 2

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Smard1

DSMA1

Sianrf

Dhmn6

Spinal Muscular Atrophy With Respiratory Distress 1

HMN6

Severe Infantile Axonal Neuropathy With Respiratory Failure

Autosomal Recessive Distal Spinal Muscular Atrophy 1

Diaphragmatic Spinal Muscular Atrophy

Spinal Muscular Atrophy With Respiratory Distress Type 1

Neuronopathy, Distal Hereditary Motor, Type Vi

Hmn Vi

Neuronopathy, Severe Infantile Axonal, With Respiratory Failure

Distal Spinal Muscular Atrophy 1

Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress

Distal Hereditary Motor Neuropathy Type 6

Distal-Hmn Type 6

Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1

Spinal Muscular Atrophy, Diaphragmatic

Distal Hereditary Motor Neuronopathy Type Vi

Distal Spinal Muscular Atrophy Type 1

Hmnvi

Spinal Muscular Atrophy With Respiratory Distress

Autosomal Recessive Distal Spinal Muscular Atrophy Type 1

Neuronopathy, Distal Hereditary Motor, 6

Dhmn Vi

Distal Hereditary Motor Neuropathy Type Vi

Severe Infantile Axonal Neuronopathy With Respiratory Failure

Spinal Muscular Atrophy Distal Autosomal Recessive 1

Atrophy, Muscular, Spinal, Distal, Type 1

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Autosomal Recessive Distal Hereditary Motor Neuronopathy

Autosomal Recessive Distal Spinal Muscular Atrophy

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

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

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 MORC2 RGD RGD:1310842
Felis catus MORC2 VGNC VGNC:63557
Canis familiaris MORC2 VGNC VGNC:43317
Bos taurus MORC2 VGNC VGNC:31555
Macaca mulatta MORC2 VGNC VGNC:74810
Mus musculus MORC2 MGD MGI:1921772