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fredag 8 december 2023

EGR C2H2-tyyppisten sinkkisormiproteiinien eräs alaryhmäperhe . Miten monta tähän perheeseen kuuluu? Löytyy 4 geeniä.

 Katson luetteloa GeneCards tietueesta, koska en ole aimmin tavannut tämän alaryhmän  nimitystäkään.  

C2H2  sinkkisormen omaavien  proteiinien ryhmä on suurin ja siitä voi löytää useitakin alaryhmittelyjä ajan myötä.

EGR1 (jo edellä mainittu  linkki)

https://www.genecards.org/cgi-bin/carddisp.pl?gene=EGR1&keywords=EGR 

 EGR2 (10q21.3)

Aliases for EGR2 Gene: GeneCards Symbol: EGR2 2 Early Growth Response 2 2 3 5 KROX20 3 4 5 E3 SUMO-Protein Transferase ERG2 3 4 Early Growth Response Protein 2 3 4 E3 SUMO-Protein Ligase EGR2 3 4 Zinc Finger Protein Krox-20 3 4 AT591 3 4  KROX-20, Drosophila, Homolog (Early Growth Response-2) 3

Early Growth Response 2 (Krox-20 Homolog, Drosophila) 2
Krox-20 Homolog, Drosophila 2
EC 2.3.2.- 4
CMT1D 3
CMT4E 3
EGR-2 4
  • The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for EGR2 Gene

EGR2 (Early Growth Response 2) is a Protein Coding gene. Diseases associated with EGR2 include Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive and Charcot-Marie-Tooth Disease, Demyelinating, Type 1D. Among its related pathways are Signaling by NTRKs and Nuclear Events (kinase and transcription factor activation). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and ligase activity. An important paralog of this gene is EGR3.

UniProtKB/Swiss-Prot Summary for EGR2 Gene

Sequence-specific DNA-binding transcription factor (PubMed:17717711). Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of genes involved in the formation and maintenance of myelin (By similarity). Binds to two EGR2-consensus sites EGR2A (5'-CTGTAGGAG-3') and EGR2B (5'-ATGTAGGTG-3') in the HOXB3 enhancer and promotes HOXB3 transcriptional activation (By similarity). Binds to specific DNA sites located in the promoter region of HOXA4, HOXB2 and ERBB2 (By similarity). Regulates hindbrain segmentation by controlling the expression of Hox genes, such as HOXA4, HOXB3 and HOXB2, and thereby specifying odd and even rhombomeres (By similarity). Promotes the expression of HOXB3 in the rhombomere r5 in the hindbrain (By similarity). Regulates myelination in the peripheral nervous system after birth, possibly by regulating the expression of myelin proteins, such as MPZ, and by promoting the differentiation of Schwann cells (By similarity). Involved in the development of the jaw openener musculature, probably by playing a role in its innervation through trigeminal motor neurons (By similarity). May play a role in adipogenesis, possibly by regulating the expression of CEBPB (By similarity). ( EGR2_HUMAN,P11161 )

E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 transcriptional activity. ( EGR2_HUMAN,P11161 )


EGR3 (8p21.3)

Aliases for EGR3 Gene     GeneCards Symbol: EGR3 2

Early Growth Response 3 2 3 5
PILOT 2 3 4 5
Zinc Finger Protein Pilot 2 3 4
Early Growth Response Protein 3 3 4
EGR-3 3 4

NCBI Gene Summary for EGR3 Gene

  • This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010]

GeneCards Summary for EGR3 Gene

EGR3 (Early Growth Response 3) is a Protein Coding gene. Diseases associated with EGR3 include Patella, Chondromalacia Of and Schizophrenia 19. Among its related pathways are Signaling by NTRKs and Nuclear Events (kinase and transcription factor activation). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is EGR2.

UniProtKB/Swiss-Prot Summary for EGR3 Gene

Probable transcription factor involved in muscle spindle development. ( EGR3_HUMAN,Q06889 )

EGR4  (2p13.2)

Aliases for EGR4 Gen      GeneCards Symbol: EGR4 2

Early Growth Response 4 2 3 5
NGFI-C 2 3 5
PAT133 2 3 5
Early Growth Response Protein 4 3 4
AT133 3 4
NGFIC 3
EGR-4 4

External Ids for EGR4 Gene

  • Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]

GeneCards Summary for EGR4 Gene

EGR4 (Early Growth Response 4) is a Protein Coding gene. Diseases associated with EGR4 include Schizophrenia 19 and Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive. Among its related pathways are Signaling by NTRKs and Nuclear Events (kinase and transcription factor activation). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is EGR2.

UniProtKB/Swiss-Prot Summary for EGR4 Gene

Transcriptional regulator. Recognizes and binds to the DNA sequence 5'-GCGGGGGCG-3' (GSG). Activates the transcription of target genes whose products are required for mitogenesis and differentiation (By similarity). ( EGR4_HUMAN,Q05215

Muistiin  8.12. 2023. Varhaiseen myeliinin metaboliaan assosioituva. 






 



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