Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P11161

- EGR2_HUMAN

UniProt

P11161 - EGR2_HUMAN

Protein

E3 SUMO-protein ligase EGR2

Gene

EGR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 162 (01 Oct 2014)
      Sequence version 3 (19 Jul 2003)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri370 – 39223C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri398 – 42023C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: UniProtKB
    2. ligase activity Source: UniProtKB-KW
    3. metal ion binding Source: UniProtKB-KW
    4. protein binding Source: UniProtKB
    5. RNA polymerase II activating transcription factor binding Source: BHF-UCL
    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

    GO - Biological processi

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

    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

    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.2 Publications
    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 (PubMed:22522483).1 Publication
    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.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 EGR2PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    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

    Contains 3 C2H2-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

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

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti68 – 681K → R in CAH18435. (PubMed:17974005)Curated
    Sequence conflicti247 – 2471K → KPFPCPLDTLRVPPPLTPLS TIRK in AAH35625. (PubMed:15489334)Curated
    Sequence conflicti280 – 2801V → M in AAA52372. (PubMed:3140236)Curated

    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. 1 PublicationVSP_006863Add
    BLAST

    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...
    MobiDBi 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

    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: October 1, 2014
    This is version 162 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