1. Gene
  2. CNOT2 - CCR4-NOT transcription complex subunit 2 Gene

CNOT2 - CCR4-NOT transcription complex subunit 2 Gene

Homo sapiens

Also known as NOT2; CDC36; NOT2H; HSPC131; IDNADFS

Gene ID: 4848 | Gene type: protein coding

About CNOT2

Cytogenetic location: 12q15 Genomic coordinates (GRCh38): 12:70,243,018-70,354,993 (from NCBI)

This gene has 42 transcripts (splice variants), 266 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 13.7), skin (RPKM 12.9) and 25 other tissues.

Summary

This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

CNOT2 Products(3)

mRNA Protein Name
NM_001199302.2 NP_001186231.1 CCR4-NOT transcription complex subunit 2 isoform a
NM_001199303.2 NP_001186232.1 CCR4-NOT transcription complex subunit 2 isoform a
NM_014515.7 NP_055330.1 CCR4-NOT transcription complex subunit 2 isoform a

CNOT2 Protein Structure

NOT2_3_5

NOT2_3_5: NOT2 / NOT3 / NOT5 family (395 - 522)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 540 a.a.
Protein Preferred Names Protein Names

CCR4-NOT transcription complex subunit 2

CC chemokine receptor 4-negative regulator of transcription 2

Related Diseases

Diseases Alias
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies

IDNADFS

12q15q21.1 Microdeletion Syndrome

Del(12)(Q15)(Q21.1)

Deletion 12q15q21.1

Monosomy 12q15q21.1

Currarino Syndrome

Currarino Triad

Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation

CURRAS

Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease

SMA1

Spinal Muscular Atrophy 1

Sma I

Sma, Infantile Acute Form

Muscular Atrophy, Infantile

Spinal Muscular Atrophy-1

Hmn Proximal Type I

Infantile Muscular Atrophy

Proximal Spinal Muscular Atrophy Type 1

Sma Type 1

Sma Type I

Sma-I

Hereditary Motor Neuropathy Proximal Type I

Progressive Muscular Atrophy Of Infancy

Proximal Spinal Muscular Atrophy, Type 1

Werdnig Hoffmann Disease

Infantile Spinal Muscular Atrophy

Infantile-Onset Spinal Muscular Atrophy

Proximal Hereditary Motor Neuropathy Type I

Sma Infantile Acute Form

Spinal Muscular Atrophy Type I

Werdnig-Hoffman Disease

Atrophy, Muscular, Spinal, Type 1

Brachydactyly
Diseases Alias
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

Orthologs Information

Species Symbol Source ID
Macaca mulatta CNOT2 VGNC VGNC:71387
Felis catus CNOT2 VGNC VGNC:68517
Mus musculus CNOT2 MGD MGI:1919318
Canis familiaris CNOT2 VGNC VGNC:39413
Bos taurus CNOT2 VGNC VGNC:27517
Rattus norvegicus CNOT2 RGD RGD:1311672