(data stored in ACNUC9435 zone)

HOGENOM: HS10_PE1338

ID   HS10_PE1338                          STANDARD;      PRT;   476 AA.
AC   HS10_PE1338; P11161; B2R724; B3KRD7; Q68CZ5; Q8IV26; Q9UNA6;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=Early growth response protein 2; Short=EGR-2;AltName:
DE   Full=AT591;AltName: Full=Zinc finger protein Krox-20; (HS10.PE1338).
GN   Name=EGR2; Synonyms=KROX20;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS10.PE1338.
CC       Homo sapiens chromosome 10 GRCh37  sequence 1..135524747 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:EGR2_HUMAN
CC   -!- FUNCTION: Sequence-specific DNA-binding transcription factor.
CC       Binds to two specific DNA sites located in the promoter region of
CC       HOXA4.
CC   -!- SUBUNIT: Interacts with HCFC1. Interacts with WWP2.
CC   -!- SUBCELLULAR LOCATION: Nucleus.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=Long;
CC         IsoId=P11161-1; Sequence=Displayed;
CC       Name=Short;
CC         IsoId=P11161-2; Sequence=VSP_006863;
CC         Note=No experimental confirmation available;
CC   -!- PTM: Ubiquitinated by WWP2 leading to proteasomal degradation (By
CC       similarity).
CC   -!- DISEASE: Defects in EGR2 are a cause of congenital hypomyelination
CC       neuropathy (CHN) [MIM:605253]. Inheritance can be autosomal
CC       dominant or recessive. Recessive CHN is also known as Charcot-
CC       Marie-Tooth disease type 4E (CMT4E). CHN is characterized
CC       clinically by early onset of hypotonia, areflexia, distal muscle
CC       weakness, and very slow nerve conduction velocities.
CC   -!- DISEASE: Defects in EGR2 are a cause of Charcot-Marie-Tooth
CC       disease type 1D (CMT1D) [MIM:607678]. CMT1D is a form of Charcot-
CC       Marie-Tooth disease, the most common inherited disorder of the
CC       peripheral nervous system. Charcot-Marie-Tooth disease is
CC       classified in two main groups on the basis of electrophysiologic
CC       properties and histopathology: primary peripheral demyelinating
CC       neuropathy or CMT1, and primary peripheral axonal neuropathy or
CC       CMT2. Neuropathies of the CMT1 group are characterized by severely
CC       reduced nerve conduction velocities (less than 38 m/sec),
CC       segmental demyelination and remyelination with onion bulb
CC       formations on nerve biopsy, slowly progressive distal muscle
CC       atrophy and weakness, absent deep tendon reflexes, and hollow
CC       feet.
CC   -!- DISEASE: Defects in EGR2 are a cause of Dejerine-Sottas syndrome
CC       (DSS) [MIM:145900]; also known as Dejerine-Sottas neuropathy (DSN)
CC       or hereditary motor and sensory neuropathy III (HMSN3). DSS is a
CC       severe degenerating neuropathy of the demyelinating Charcot-Marie-
CC       Tooth disease category, with onset by age 2 years. DSS is
CC       characterized by motor and sensory neuropathy with very slow nerve
CC       conduction velocities, increased cerebrospinal fluid protein
CC       concentrations, hypertrophic nerve changes, delayed age of walking
CC       as well as areflexia. There are both autosomal dominant and
CC       autosomal recessive forms of Dejerine-Sottas syndrome.
CC   -!- SIMILARITY: Belongs to the EGR C2H2-type zinc-finger protein
CC       family.
CC   -!- SIMILARITY: Contains 3 C2H2-type zinc fingers.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAA52372.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC       Sequence=AAA52372.1; Type=Frameshift; Positions=449;
CC   -!- WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db;
CC       URL="http://www.molgen.ua.ac.be/CMTMutations/";
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EGR2";
CC   -!- GENE_FAMILY: HOG000036856 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000122877;ENST00000437594;ENSP00000409728.
DR   EMBL; AF139463; - ;
DR   EMBL; AK091399; - ;
DR   EMBL; AK312813; - ;
DR   EMBL; AL133417; - ;
DR   EMBL; BC035625; - ;
DR   EMBL; CH471083; - ;
DR   EMBL; CR749641; - ;
DR   EMBL; J04076; - ;
DR   EMBL; X53700; - ;
DR   UniProtKB/Swiss-Prot; P11161; B2R724; B3KRD7; Q68CZ5; Q8IV26; Q9UNA6; -.
DR   EMBL; J04076; AAA52372.1; ALT_SEQ; mRNA.
DR   EMBL; AF139463; AAD24588.1; -; mRNA.
DR   EMBL; AK091399; BAG52349.1; -; mRNA.
DR   EMBL; AK312813; BAG35671.1; -; mRNA.
DR   EMBL; CR749641; CAH18435.1; -; mRNA.
DR   EMBL; AL133417; CAH73827.2; -; Genomic_DNA.
DR   EMBL; CH471083; EAW54238.1; -; Genomic_DNA.
DR   EMBL; CH471083; EAW54239.1; -; Genomic_DNA.
DR   EMBL; BC035625; AAH35625.1; -; mRNA.
DR   EMBL; X53700; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   IPI; IPI00305368; -.
DR   IPI; IPI00797785; -.
DR   RefSeq; NP_000390.2; NM_000399.3.
DR   RefSeq; NP_001129649.1; NM_001136177.1.
DR   RefSeq; NP_001129650.1; NM_001136178.1.
DR   RefSeq; NP_001129651.1; NM_001136179.1.
DR   UniGene; Hs.1395; -.
DR   ProteinModelPortal; P11161; -.
DR   SMR; P11161; 325-463.
DR   IntAct; P11161; 3.
DR   MINT; MINT-234172; -.
DR   STRING; P11161; -.
DR   PhosphoSite; P11161; -.
DR   PRIDE; P11161; -.
DR   Ensembl; ENST00000242480; ENSP00000242480; ENSG00000122877.
DR   Ensembl; ENST00000437594; ENSP00000409728; ENSG00000122877.
DR   Ensembl; ENST00000439032; ENSP00000402040; ENSG00000122877.
DR   GeneID; 1959; -.
DR   KEGG; hsa:1959; -.
DR   UCSC; uc001jmh.1; human.
DR   UCSC; uc001jmi.1; human.
DR   CTD; 1959; -.
DR   GeneCards; GC10M058563; -.
DR   HGNC; HGNC:3239; EGR2.
DR   MIM; 129010; gene.
DR   MIM; 145900; phenotype.
DR   MIM; 605253; phenotype.
DR   MIM; 607678; phenotype.
DR   neXtProt; NX_P11161; -.
DR   Orphanet; 101084; Charcot-Marie-Tooth disease type 1D.
DR   Orphanet; 99951; Charcot-Marie-Tooth disease type 4E.
DR   Orphanet; 64748; Dejerine-Sottas syndrome.
DR   PharmGKB; PA27674; -.
DR   eggNOG; prNOG10314; -.
DR   GeneTree; ENSGT00550000074455; -.
DR   InParanoid; P11161; -.
DR   OMA; GNEGPRL; -.
DR   OrthoDB; EOG41NTMJ; -.
DR   PhylomeDB; P11161; -.
DR   Pathway_Interaction_DB; nfat_tfpathway; Calcineurin-regulated NFAT-dependent transcription in lymphocytes.
DR   Pathway_Interaction_DB; il4_2pathway; IL4-mediated signaling events.
DR   NextBio; 7947; -.
DR   ArrayExpress; P11161; -.
DR   Bgee; P11161; -.
DR   CleanEx; HS_EGR2; -.
DR   Genevestigator; P11161; -.
DR   GermOnline; ENSG00000122877; Homo sapiens.
DR   GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR   GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR   GO; GO:0003682; F:chromatin binding; ISS:UniProtKB.
DR   GO; GO:0001102; F:RNA polymerase II activating transcription factor binding; ISS:BHF-UCL.
DR   GO; GO:0003700; F:sequence-specific DNA binding transcription factor activity; IDA:UniProtKB.
DR   GO; GO:0044212; F:transcription regulatory region DNA binding; ISS:UniProtKB.
DR   GO; GO:0031625; F:ubiquitin protein ligase binding; IPI:UniProtKB.
DR   GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR   GO; GO:0045444; P:fat cell differentiation; ISS:BHF-UCL.
DR   GO; GO:0006611; P:protein export from nucleus; ISS:UniProtKB.
DR   GO; GO:0006366; P:transcription from RNA polymerase II promoter; ISS:BHF-UCL.
DR   InterPro; IPR021849; DUF3446.
DR   InterPro; IPR007087; Znf_C2H2.
DR   InterPro; IPR015880; Znf_C2H2-like.
DR   InterPro; IPR013087; Znf_C2H2/integrase_DNA-bd.
DR   Gene3D; G3DSA:3.30.160.60; Znf_C2H2/integrase_DNA-bd; 3.
DR   Pfam; PF11928; DUF3446; 1.
DR   Pfam; PF00096; zf-C2H2; 3.
DR   SMART; SM00355; ZnF_C2H2; 3.
DR   PROSITE; PS00028; ZINC_FINGER_C2H2_1; 3.
DR   PROSITE; PS50157; ZINC_FINGER_C2H2_2; 3.
DR   HOGENOMDNA; HS10.PE1338; -.
KW   ENSG000001228771755old_1320000031; ENSP000004097287901old_1320000031;
KW   AF139463; AK091399; AK312813; AL133417; BC035625; CH471083; CR749641;
KW   X53700;
KW   Activator; Alternative splicing; Charcot-Marie-Tooth disease;
KW   Complete proteome; Dejerine-Sottas syndrome; Disease mutation;
KW   DNA-binding; Metal-binding; Neuropathy; Nucleus; Reference proteome;
KW   Repeat; Transcription; Transcription regulation; Ubl conjugation;
KW   Zinc; Zinc-finger.
SQ   SEQUENCE   476 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MMTAKAVDKI PVTLSGFVHQ LSDNIYPVED LAATSVTIFP NAELGGPFDQ MNGVAGDGMI
     NIDMTGEKRS LDLPYPSSFA PVSAPRNQTF TYMGKFSIDP QYPGASCYPE GIINIVSAGI
     LQGVTSPAST TASSSVTSAS PNPLATGPLG VCTMSQTQPD LDHLYSPPPP PPPYSGCAGD
     LYQDPSAFLS AATTSTSSSL AYPPPPSYPS PKPATDPGLF PMIPDYPGFF PSQCQRDLHG
     TAGPDRKPFP CPLDTLRVPP PLTPLSTIRN FTLGGPSAGV TGPGASGGSE GPRLPGSSSA
     AAAAAAAAAY NPHHLPLRPI LRPRKYPNRP SKTPVHERPY PCPAEGCDRR FSRSDELTRH
     IRIHTGHKPF QCRICMRNFS RSDHLTTHIR THTGEKPFAC DYCGRKFARS DERKRHTKIH
     LRQKERKSSA PSASVPAPST ASCSGGVQPG GTLCSSNSSS LGGGPLAPCS SRTRTP
//

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