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P11161

- EGR2_HUMAN

UniProt

P11161 - EGR2_HUMAN

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Protein
E3 SUMO-protein ligase EGR2
Gene
EGR2, KROX20
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4.1 Publication
E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 own transcriptional activity.1 Publication

Pathwayi

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri340 – 36425C2H2-type 1
Add
BLAST
Zinc fingeri370 – 39223C2H2-type 2
Add
BLAST
Zinc fingeri398 – 42023C2H2-type 3
Add
BLAST

GO - Molecular functioni

  1. RNA polymerase II activating transcription factor binding Source: BHF-UCL
  2. chromatin binding Source: UniProtKB
  3. ligase activity Source: UniProtKB-KW
  4. metal ion binding Source: UniProtKB-KW
  5. protein binding Source: UniProtKB
  6. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  7. transcription regulatory region DNA binding Source: UniProtKB
  8. ubiquitin protein ligase binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. Schwann cell differentiation Source: Ensembl
  2. brain development Source: ProtInc
  3. brain segmentation Source: Ensembl
  4. cell death Source: UniProtKB-KW
  5. cellular response to cAMP Source: RefGenome
  6. cellular response to gonadotropin stimulus Source: RefGenome
  7. facial nerve structural organization Source: Ensembl
  8. fat cell differentiation Source: BHF-UCL
  9. learning or memory Source: Ensembl
  10. motor neuron axon guidance Source: Ensembl
  11. myelination Source: RefGenome
  12. negative regulation of apoptotic process Source: RefGenome
  13. peripheral nervous system development Source: ProtInc
  14. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  15. positive regulation of transcription, DNA-templated Source: UniProtKB
  16. protein export from nucleus Source: UniProtKB
  17. protein sumoylation Source: UniProtKB-UniPathway
  18. regulation of neuronal synaptic plasticity Source: RefGenome
  19. regulation of ossification Source: Ensembl
  20. response to insulin Source: Ensembl
  21. rhombomere 3 formation Source: Ensembl
  22. rhombomere 5 formation Source: Ensembl
  23. rhythmic behavior Source: Ensembl
  24. skeletal muscle cell differentiation Source: RefGenome
  25. transcription from RNA polymerase II promoter Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Activator, Ligase

Keywords - Biological processi

Transcription, Transcription regulation, Ubl conjugation pathway

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_27161. Transcriptional regulation of white adipocyte differentiation.
SignaLinkiP11161.
UniPathwayiUPA00886.

Names & Taxonomyi

Protein namesi
Recommended name:
E3 SUMO-protein ligase EGR2 (EC:6.3.2.-)
Alternative name(s):
AT591
Early growth response protein 2
Short name:
EGR-2
Zinc finger protein Krox-20
Gene namesi
Name:EGR2
Synonyms:KROX20
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:3239. EGR2.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253]: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive.
Note: The disease is caused by mutations affecting the gene represented in this entry. Patients affected by the amyelinating form carry a causative, homozygous deletion encompassing a myelin-specific enhancer of EGR2 (1 Publication).2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti268 – 2681I → N in CHN. 1 Publication
VAR_007735
Natural varianti382 – 3832SD → RY in CHN.
VAR_007737
Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.
Note: The disease is caused by mutations affecting the gene represented in this entry.8 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti355 – 3551D → V in CMT1D. 2 Publications
VAR_007736
Natural varianti359 – 3591R → W in DSS and CMT1D; associated with A-136 in the GJB1 gene in a DSS Korean girl. 3 Publications
VAR_009874
Natural varianti381 – 3811R → C in CMT1D. 1 Publication
VAR_029958
Natural varianti381 – 3811R → H in CMT1D. 1 Publication
VAR_009875
Natural varianti383 – 3831D → Y in CMT1D. 1 Publication
VAR_029959
Natural varianti409 – 4091R → W in CMT1D. 1 Publication
VAR_007738
Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti359 – 3591R → W in DSS and CMT1D; associated with A-136 in the GJB1 gene in a DSS Korean girl. 3 Publications
VAR_009874

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi162 – 1654DHLY → AAAA: Inhibits association with HCFC1. 1 Publication

Keywords - Diseasei

Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

MIMi145900. phenotype.
605253. phenotype.
607678. phenotype.
Orphaneti101084. Charcot-Marie-Tooth disease type 1D.
99951. Charcot-Marie-Tooth disease type 4E.
64748. Dejerine-Sottas syndrome.
PharmGKBiPA27674.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 476476E3 SUMO-protein ligase EGR2
PRO_0000047119Add
BLAST

Post-translational modificationi

Ubiquitinated by WWP2 leading to proteasomal degradation By similarity.

Keywords - PTMi

Ubl conjugation

Proteomic databases

PaxDbiP11161.
PRIDEiP11161.

PTM databases

PhosphoSiteiP11161.

Expressioni

Gene expression databases

BgeeiP11161.
CleanExiHS_EGR2.
GenevestigatoriP11161.

Interactioni

Subunit structurei

Interacts with HCFC1. Interacts with WWP2. Interacts with UBC9.3 Publications

Protein-protein interaction databases

BioGridi108279. 16 interactions.
IntActiP11161. 10 interactions.
MINTiMINT-234172.
STRINGi9606.ENSP00000242480.

Structurei

3D structure databases

ProteinModelPortaliP11161.
SMRiP11161. Positions 338-464.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi162 – 1654HCFC1-binding-motif (HBM)

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi300 – 30910Poly-Ala

Sequence similaritiesi

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
HOGENOMiHOG000036856.
HOVERGENiHBG003909.
InParanoidiP11161.
KOiK12496.
OMAiNPEGVIN.
OrthoDBiEOG7Z69C7.
PhylomeDBiP11161.
TreeFamiTF318980.

Family and domain databases

Gene3Di3.30.160.60. 3 hits.
InterProiIPR021849. DUF3446.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF11928. DUF3446. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 3 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform Long (identifier: P11161-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MMTAKAVDKI PVTLSGFVHQ LSDNIYPVED LAATSVTIFP NAELGGPFDQ    50
MNGVAGDGMI NIDMTGEKRS LDLPYPSSFA PVSAPRNQTF TYMGKFSIDP 100
QYPGASCYPE GIINIVSAGI LQGVTSPAST TASSSVTSAS PNPLATGPLG 150
VCTMSQTQPD LDHLYSPPPP PPPYSGCAGD LYQDPSAFLS AATTSTSSSL 200
AYPPPPSYPS PKPATDPGLF PMIPDYPGFF PSQCQRDLHG TAGPDRKPFP 250
CPLDTLRVPP PLTPLSTIRN FTLGGPSAGV TGPGASGGSE GPRLPGSSSA 300
AAAAAAAAAY NPHHLPLRPI LRPRKYPNRP SKTPVHERPY PCPAEGCDRR 350
FSRSDELTRH IRIHTGHKPF QCRICMRNFS RSDHLTTHIR THTGEKPFAC 400
DYCGRKFARS DERKRHTKIH LRQKERKSSA PSASVPAPST ASCSGGVQPG 450
GTLCSSNSSS LGGGPLAPCS SRTRTP 476
Length:476
Mass (Da):50,302
Last modified:July 19, 2003 - v3
Checksum:i7810D1B1B418DF1F
GO
Isoform Short (identifier: P11161-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.

Note: No experimental confirmation available.

Show »
Length:426
Mass (Da):44,970
Checksum:iDD358E32D00B4353
GO

Sequence cautioni

The sequence AAA52372.1 differs from that shown. Reason: Frameshift at position 449.
The sequence AAA52372.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti268 – 2681I → N in CHN. 1 Publication
VAR_007735
Natural varianti355 – 3551D → V in CMT1D. 2 Publications
VAR_007736
Natural varianti359 – 3591R → W in DSS and CMT1D; associated with A-136 in the GJB1 gene in a DSS Korean girl. 3 Publications
VAR_009874
Natural varianti381 – 3811R → C in CMT1D. 1 Publication
VAR_029958
Natural varianti381 – 3811R → H in CMT1D. 1 Publication
VAR_009875
Natural varianti382 – 3832SD → RY in CHN.
VAR_007737
Natural varianti383 – 3831D → Y in CMT1D. 1 Publication
VAR_029959
Natural varianti409 – 4091R → W in CMT1D. 1 Publication
VAR_007738

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5050Missing in isoform Short.
VSP_006863Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti68 – 681K → R in CAH18435. 1 Publication
Sequence conflicti247 – 2471K → KPFPCPLDTLRVPPPLTPLS TIRK in AAH35625. 1 Publication
Sequence conflicti280 – 2801V → M in AAA52372. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
J04076 mRNA. Translation: AAA52372.1. Sequence problems.
AF139463 mRNA. Translation: AAD24588.1.
AK091399 mRNA. Translation: BAG52349.1.
AK312813 mRNA. Translation: BAG35671.1.
CR749641 mRNA. Translation: CAH18435.1.
AL133417 Genomic DNA. Translation: CAH73827.2.
CH471083 Genomic DNA. Translation: EAW54238.1.
CH471083 Genomic DNA. Translation: EAW54239.1.
BC035625 mRNA. Translation: AAH35625.1.
X53700 Genomic DNA. No translation available.
CCDSiCCDS44409.1. [P11161-2]
CCDS7267.1. [P11161-1]
RefSeqiNP_000390.2. NM_000399.3. [P11161-1]
NP_001129649.1. NM_001136177.1. [P11161-1]
NP_001129650.1. NM_001136178.1. [P11161-1]
NP_001129651.1. NM_001136179.1. [P11161-2]
UniGeneiHs.1395.

Genome annotation databases

EnsembliENST00000242480; ENSP00000242480; ENSG00000122877. [P11161-1]
ENST00000411732; ENSP00000387634; ENSG00000122877. [P11161-2]
ENST00000439032; ENSP00000402040; ENSG00000122877. [P11161-1]
GeneIDi1959.
KEGGihsa:1959.
UCSCiuc001jmi.3. human. [P11161-1]
uc010qio.2. human. [P11161-2]

Polymorphism databases

DMDMi33112654.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
J04076 mRNA. Translation: AAA52372.1 . Sequence problems.
AF139463 mRNA. Translation: AAD24588.1 .
AK091399 mRNA. Translation: BAG52349.1 .
AK312813 mRNA. Translation: BAG35671.1 .
CR749641 mRNA. Translation: CAH18435.1 .
AL133417 Genomic DNA. Translation: CAH73827.2 .
CH471083 Genomic DNA. Translation: EAW54238.1 .
CH471083 Genomic DNA. Translation: EAW54239.1 .
BC035625 mRNA. Translation: AAH35625.1 .
X53700 Genomic DNA. No translation available.
CCDSi CCDS44409.1. [P11161-2 ]
CCDS7267.1. [P11161-1 ]
RefSeqi NP_000390.2. NM_000399.3. [P11161-1 ]
NP_001129649.1. NM_001136177.1. [P11161-1 ]
NP_001129650.1. NM_001136178.1. [P11161-1 ]
NP_001129651.1. NM_001136179.1. [P11161-2 ]
UniGenei Hs.1395.

3D structure databases

ProteinModelPortali P11161.
SMRi P11161. Positions 338-464.
ModBasei Search...

Protein-protein interaction databases

BioGridi 108279. 16 interactions.
IntActi P11161. 10 interactions.
MINTi MINT-234172.
STRINGi 9606.ENSP00000242480.

PTM databases

PhosphoSitei P11161.

Polymorphism databases

DMDMi 33112654.

Proteomic databases

PaxDbi P11161.
PRIDEi P11161.

Protocols and materials databases

DNASUi 1959.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000242480 ; ENSP00000242480 ; ENSG00000122877 . [P11161-1 ]
ENST00000411732 ; ENSP00000387634 ; ENSG00000122877 . [P11161-2 ]
ENST00000439032 ; ENSP00000402040 ; ENSG00000122877 . [P11161-1 ]
GeneIDi 1959.
KEGGi hsa:1959.
UCSCi uc001jmi.3. human. [P11161-1 ]
uc010qio.2. human. [P11161-2 ]

Organism-specific databases

CTDi 1959.
GeneCardsi GC10M064571.
GeneReviewsi EGR2.
HGNCi HGNC:3239. EGR2.
MIMi 129010. gene.
145900. phenotype.
605253. phenotype.
607678. phenotype.
neXtProti NX_P11161.
Orphaneti 101084. Charcot-Marie-Tooth disease type 1D.
99951. Charcot-Marie-Tooth disease type 4E.
64748. Dejerine-Sottas syndrome.
PharmGKBi PA27674.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
HOGENOMi HOG000036856.
HOVERGENi HBG003909.
InParanoidi P11161.
KOi K12496.
OMAi NPEGVIN.
OrthoDBi EOG7Z69C7.
PhylomeDBi P11161.
TreeFami TF318980.

Enzyme and pathway databases

UniPathwayi UPA00886 .
Reactomei REACT_27161. Transcriptional regulation of white adipocyte differentiation.
SignaLinki P11161.

Miscellaneous databases

GeneWikii EGR2.
GenomeRNAii 1959.
NextBioi 7947.
PROi P11161.
SOURCEi Search...

Gene expression databases

Bgeei P11161.
CleanExi HS_EGR2.
Genevestigatori P11161.

Family and domain databases

Gene3Di 3.30.160.60. 3 hits.
InterProi IPR021849. DUF3446.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
Pfami PF11928. DUF3446. 1 hit.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 3 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with 'zinc-binding finger' structure."
    Joseph L.J., le Beau M.M., Jamieson G.A. Jr., Acharya S., Shows T.B., Rowley J.D., Sukhatme V.P.
    Proc. Natl. Acad. Sci. U.S.A. 85:7164-7168(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
  2. Erratum
    Joseph L.J., le Beau M.M., Jamieson G.A. Jr., Acharya S., Shows T.B., Rowley J.D., Sukhatme V.P.
    Proc. Natl. Acad. Sci. U.S.A. 86:515-515(1989)
    Cited for: SEQUENCE REVISION TO C-TERMINUS.
  3. "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies."
    Warner L.E., Mancias P., Butler I.J., McDonald C.M., Keppen L., Koob K.G., Lupski J.R.
    Nat. Genet. 18:382-384(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANTS CHN ASN-268 AND 382-ARG-TYR-383, VARIANT CMT1D TRP-409.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS LONG AND SHORT).
    Tissue: Brain and Testis.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Endometrium.
  6. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  9. "The serum and TPA responsive promoter and intron-exon structure of EGR2, a human early growth response gene encoding a zinc finger protein."
    Rangnekar V.M., Aplin A.C., Sukhatme V.P.
    Nucleic Acids Res. 18:2749-2757(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-21.
  10. "HCF-1 functions as a coactivator for the zinc finger protein Krox20."
    Luciano R.L., Wilson A.C.
    J. Biol. Chem. 278:51116-51124(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HCFC1, MUTAGENESIS OF 162-ASP--TYR-165.
  11. "The HECT-type E3 ubiquitin ligase AIP2 inhibits activation-induced T-cell death by catalyzing EGR2 ubiquitination."
    Chen A., Gao B., Zhang J., McEwen T., Ye S.Q., Zhang D., Fang D.
    Mol. Cell. Biol. 29:5348-5356(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH WWP2.
  12. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  13. "The transcription factor Krox20 is an E3 ligase that sumoylates its Nab coregulators."
    Garcia-Gutierrez P., Juarez-Vicente F., Gallardo-Chamizo F., Charnay P., Garcia-Dominguez M.
    EMBO Rep. 12:1018-1023(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION AS SUMO LIGASE, INTERACTION WITH UBC9.
  14. Cited for: INVOLVEMENT IN CHN.
  15. "EGR2 gene mutation in a patient affected with Charcot-Marie-Tooth type 1."
    Di Maria E., Bellone E., Soriani S., Varese A., Lamba Doria L., Grandis M., Schenone A., Levi G., Ajmar F., Mandich P.
    Eur. J. Hum. Genet. Suppl. 7:99-99(1999)
    Cited for: VARIANT CMT1D VAL-355.
  16. "A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease."
    Bellone E., Di Maria E., Soriani S., Varese A., Lamba Doria L., Ajmar F., Mandich P.
    Hum. Mutat. 14:353-354(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMT1D VAL-355.
  17. "Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype."
    Timmerman V., De Jonghe P., Ceuterick C., De Vriendt E., Lofgren A., Nelis E., Warner L.E., Lupski J.R., Martin J.-J., Van Broeckhoven C.
    Neurology 52:1827-1832(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DSS TRP-359.
  18. "Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation."
    Pareyson D., Taroni F., Botti S., Morbin M., Baratta S., Lauria G., Ciano C., Sghirlanzoni A.
    Neurology 54:1696-1698(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMT1D HIS-381.
  19. "A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1."
    Yoshihara T., Kanda F., Yamamoto M., Ishihara H., Misu K., Hattori N., Chihara K., Sobue G.
    J. Neurol. Sci. 184:149-153(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMT1D CYS-381.
  20. "Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1."
    Numakura C., Shirahata E., Yamashita S., Kanai M., Kijima K., Matsuki T., Hayasaka K.
    J. Neurol. Sci. 210:61-64(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMT1D TYR-383.
  21. "Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients."
    Choi B.-O., Lee M.S., Shin S.H., Hwang J.H., Choi K.-G., Kim W.-K., Sunwoo I.N., Kim N.K., Chung K.W.
    Hum. Mutat. 24:185-186(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMT1D TRP-359.
  22. "Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family."
    Chung K.W., Sunwoo I.N., Kim S.M., Park K.D., Kim W.-K., Kim T.S., Koo H., Cho M., Lee J., Choi B.O.
    Neurogenetics 6:159-163(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMT1D TRP-359.

Entry informationi

Entry nameiEGR2_HUMAN
AccessioniPrimary (citable) accession number: P11161
Secondary accession number(s): B2R724
, B3KRD7, Q68CZ5, Q8IV26, Q9UNA6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 19, 2003
Last modified: September 3, 2014
This is version 161 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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