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Q9BXF3

- CECR2_HUMAN

UniProt

Q9BXF3 - CECR2_HUMAN

Protein

Cat eye syndrome critical region protein 2

Gene

CECR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 2 (05 Sep 2006)
      Previous versions | rss
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    Functioni

    Part of the CERF (CECR2-containing-remodeling factor) complex, which facilitates the perturbation of chromatin structure in an ATP-dependent manner. May be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis.1 Publication

    GO - Molecular functioni

    1. protein binding Source: HGNC

    GO - Biological processi

    1. apoptotic DNA fragmentation Source: HGNC
    2. ATP-dependent chromatin remodeling Source: MGI
    3. cochlea development Source: Ensembl
    4. cytokinesis Source: UniProtKB
    5. cytoskeleton organization Source: UniProtKB
    6. execution phase of apoptosis Source: BHF-UCL
    7. inner ear receptor stereocilium organization Source: Ensembl
    8. neural fold formation Source: Ensembl
    9. neural tube closure Source: Ensembl
    10. single fertilization Source: Ensembl
    11. vesicle-mediated transport Source: UniProtKB

    Keywords - Molecular functioni

    Chromatin regulator

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cat eye syndrome critical region protein 2
    Gene namesi
    Name:CECR2
    Synonyms:KIAA1740
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:1840. CECR2.

    Subcellular locationi

    GO - Cellular componenti

    1. CERF complex Source: MGI
    2. nuclear euchromatin Source: Ensembl
    3. nucleus Source: HGNC

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA26383.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 14841484Cat eye syndrome critical region protein 2PRO_0000211192Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei422 – 4221Phosphoserine1 Publication
    Modified residuei546 – 5461Phosphothreonine1 Publication
    Modified residuei571 – 5711Phosphoserine1 Publication
    Modified residuei1014 – 10141Phosphoserine1 Publication
    Modified residuei1312 – 13121Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ9BXF3.
    PRIDEiQ9BXF3.

    PTM databases

    PhosphoSiteiQ9BXF3.

    Expressioni

    Tissue specificityi

    Highly expressed in skeletal muscle, thymus, placenta and lung. Expressed at lower level in brain, heart, colon, spleen, kidney.

    Gene expression databases

    ArrayExpressiQ9BXF3.
    BgeeiQ9BXF3.
    CleanExiHS_CECR2.
    GenevestigatoriQ9BXF3.

    Organism-specific databases

    HPAiHPA002943.

    Interactioni

    Subunit structurei

    Part of the CECR2-containing remodeling factor (CERF) complex which contains CECR2 and SMARCA1. Interacts with acetylated lysine residues on histone H2A and H3 (in vitro). Interacts with LRPPRC.3 Publications

    Protein-protein interaction databases

    BioGridi118176. 4 interactions.
    STRINGi9606.ENSP00000262608.

    Structurei

    Secondary structure

    1
    1484
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi439 – 45214
    Helixi457 – 4593
    Turni465 – 4673
    Helixi471 – 4744
    Helixi481 – 4899
    Helixi496 – 51419
    Helixi519 – 53618

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3NXBX-ray1.83A/B424-538[»]
    ProteinModelPortaliQ9BXF3.
    SMRiQ9BXF3. Positions 412-537.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9BXF3.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini451 – 52171BromoPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi333 – 3375Poly-Glu
    Compositional biasi611 – 6144Poly-Ser
    Compositional biasi1250 – 12534Poly-Pro

    Sequence similaritiesi

    Contains 1 bromo domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Bromodomain

    Phylogenomic databases

    eggNOGiCOG5076.
    HOGENOMiHOG000081808.
    HOVERGENiHBG081078.
    PhylomeDBiQ9BXF3.
    TreeFamiTF324727.

    Family and domain databases

    Gene3Di1.20.920.10. 1 hit.
    InterProiIPR001487. Bromodomain.
    IPR018359. Bromodomain_CS.
    IPR029614. CECR2.
    [Graphical view]
    PANTHERiPTHR22880:SF123. PTHR22880:SF123. 1 hit.
    PfamiPF00439. Bromodomain. 1 hit.
    [Graphical view]
    PRINTSiPR00503. BROMODOMAIN.
    SMARTiSM00297. BROMO. 1 hit.
    [Graphical view]
    SUPFAMiSSF47370. SSF47370. 1 hit.
    PROSITEiPS00633. BROMODOMAIN_1. 1 hit.
    PS50014. BROMODOMAIN_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: Q9BXF3-1) [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

    MCPEEGGAAG LGELRSWWEV PAIAHFCSLF RTAFRLPDFE IEELEAALHR     50
    DDVEFISDLI ACLLQGCYQR RDITPQTFHS YLEDIINYRW ELEEGKPNPL 100
    REASFQDLPL RTRVEILHRL CDYRLDADDV FDLLKGLDAD SLRVEPLGED 150
    NSGALYWYFY GTRMYKEDPV QGKSNGELSL SRESEGQKNV SSIPGKTGKR 200
    RGRPPKRKKL QEEILLSEKQ EENSLASEPQ TRHGSQGPGQ GTWWLLCQTE 250
    EEWRQVTESF RERTSLRERQ LYKLLSEDFL PEICNMIAQK GKRPQRTKAE 300
    LHPRWMSDHL SIKPVKQEET PVLTRIEKQK RKEEEEERQI LLAVQKKEQE 350
    QMLKEERKRE LEEKVKAVEG MCSVRVVWRG ACLSTSRPVD RAKRRKLREE 400
    RAWLLAQGKE LPPELSHLDP NSPMREEKKT KDLFELDDDF TAMYKVLDVV 450
    KAHKDSWPFL EPVDESYAPN YYQIIKAPMD ISSMEKKLNG GLYCTKEEFV 500
    NDMKTMFRNC RKYNGESSEY TKMSDNLERC FHRAMMKHFP GEDGDTDEEF 550
    WIREDEKREK RRSRAGRSGG SHVWTRSRDP EGSSRKQQPM ENGGKSLPPT 600
    RRAPSSGDDQ SSSSTQPPRE VGTSNGRGFS HPLHCGGTPS QAPFLNQMRP 650
    AVPGTFGPLR GSDPATLYGS SGVPEPHPGE PVQQRQPFTM QPPVGINSLR 700
    GPRLGTPEEK QMCGGLTHLS NMGPHPGSLQ LGQISGPSQD GSMYAPAQFQ 750
    PGFIPPRHGG APARPPDFPE SSEIPPSHMY RSYKYLNRVH SAVWNGNHGA 800
    TNQGPLGPDE KPHLGPGPSH QPRTLGHVMD SRVMRPPVPP NQWTEQSGFL 850
    PHGVPSSGYM RPPCKSAGHR LQPPPVPAPS SLFGAPAQAL RGVQGGDSMM 900
    DSPEMIAMQQ LSSRVCPPGV PYHPHQPAHP RLPGPFPQVA HPMSVTVSAP 950
    KPALGNPGRA PENSEAQEPE NDQAEPLPGL EEKPPGVGTS EGVYLTQLPH 1000
    PTPPLQTDCT RQSSPQERET VGPELKSSSS ESADNCKAMK GKNPWPSDSS 1050
    YPGPAAQGCV RDLSTVADRG ALSENGVIGE ASPCGSEGKG LGSSGSEKLL 1100
    CPRGRTLQET MPCTGQNAAT PPSTDPGLTG GTVSQFPPLY MPGLEYPNSA 1150
    AHYHISPGLQ GVGPVMGGKS PASHPQHFPP RGFQSNHPHS GGFPRYRPPQ 1200
    GMRYSYHPPP QPSYHHYQRT PYYACPQSFS DWQRPLHPQG SPSGPPASQP 1250
    PPPRSLFSDK NAMASLQGCE TLNAALTSPT RMDAVAAKVP NDGQNPGPEE 1300
    EKLDESMERP ESPKEFLDLD NHNAATKRQS SLSASEYLYG TPPPLSSGMG 1350
    FGSSAFPPHS VMLQTGPPYT PQRPASHFQP RAYSSPVAAL PPHHPGATQP 1400
    NGLSQEGPIY RCQEEGLGHF QAVMMEQIGT RSGIRGPFQE MYRPSGMQMH 1450
    PVQSQASFPK TPTAATSQEE VPPHKPPTLP LDQS 1484
    Length:1,484
    Mass (Da):164,213
    Last modified:September 5, 2006 - v2
    Checksum:i8680DB16A0B90D0D
    GO
    Isoform B (identifier: Q9BXF3-2) [UniParc]FASTAAdd to Basket

    Also known as: CECR2B

    The sequence of this isoform differs from the canonical sequence as follows:
         291-318: Missing.
         519-526: EYTKMSDN → GKQGRSLC
         527-1484: Missing.

    Show »
    Length:498
    Mass (Da):58,108
    Checksum:i40A2A890E9B5B9D6
    GO
    Isoform C (identifier: Q9BXF3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         370-389: Missing.

    Show »
    Length:1,464
    Mass (Da):162,067
    Checksum:i3321852BA97D5481
    GO

    Sequence cautioni

    The sequence CAH56122.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence CAH56212.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence EAW57756.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti352 – 3521M → I in CAH56122. (PubMed:17974005)Curated
    Sequence conflicti352 – 3521M → I in CAH56212. (PubMed:17974005)Curated
    Sequence conflicti1029 – 10291S → C in AAK15343. (PubMed:11381032)Curated
    Sequence conflicti1045 – 10451W → R in AAK15343. (PubMed:11381032)Curated
    Sequence conflicti1441 – 14411M → T in CAH56122. (PubMed:17974005)Curated
    Sequence conflicti1441 – 14411M → T in CAH56212. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti293 – 2931R → H.
    Corresponds to variant rs5747211 [ dbSNP | Ensembl ].
    VAR_027411
    Natural varianti674 – 6741P → L.2 Publications
    Corresponds to variant rs1296794 [ dbSNP | Ensembl ].
    VAR_027412

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei291 – 31828Missing in isoform B. 1 PublicationVSP_000571Add
    BLAST
    Alternative sequencei370 – 38920Missing in isoform C. 2 PublicationsVSP_020407Add
    BLAST
    Alternative sequencei519 – 5268EYTKMSDN → GKQGRSLC in isoform B. 1 PublicationVSP_000572
    Alternative sequencei527 – 1484958Missing in isoform B. 1 PublicationVSP_000573Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF336133 mRNA. Translation: AAK15343.1.
    AC004019 Genomic DNA. No translation available.
    CH471193 Genomic DNA. Translation: EAW57756.1. Different initiation.
    BX647449 mRNA. Translation: CAH56122.1. Different initiation.
    AL832377 mRNA. Translation: CAH56212.1. Different initiation.
    AB051527 mRNA. Translation: BAB21831.1.
    AF411609 mRNA. Translation: AAL07393.1.
    RefSeqiNP_001276975.1. NM_001290046.1.
    NP_001276976.1. NM_001290047.1. [Q9BXF3-3]
    UniGeneiHs.231895.
    Hs.658723.

    Genome annotation databases

    EnsembliENST00000262608; ENSP00000262608; ENSG00000099954.
    GeneIDi27443.
    KEGGihsa:27443.
    UCSCiuc010gqw.1. human. [Q9BXF3-1]

    Polymorphism databases

    DMDMi114152782.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF336133 mRNA. Translation: AAK15343.1 .
    AC004019 Genomic DNA. No translation available.
    CH471193 Genomic DNA. Translation: EAW57756.1 . Different initiation.
    BX647449 mRNA. Translation: CAH56122.1 . Different initiation.
    AL832377 mRNA. Translation: CAH56212.1 . Different initiation.
    AB051527 mRNA. Translation: BAB21831.1 .
    AF411609 mRNA. Translation: AAL07393.1 .
    RefSeqi NP_001276975.1. NM_001290046.1.
    NP_001276976.1. NM_001290047.1. [Q9BXF3-3 ]
    UniGenei Hs.231895.
    Hs.658723.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3NXB X-ray 1.83 A/B 424-538 [» ]
    ProteinModelPortali Q9BXF3.
    SMRi Q9BXF3. Positions 412-537.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118176. 4 interactions.
    STRINGi 9606.ENSP00000262608.

    PTM databases

    PhosphoSitei Q9BXF3.

    Polymorphism databases

    DMDMi 114152782.

    Proteomic databases

    PaxDbi Q9BXF3.
    PRIDEi Q9BXF3.

    Protocols and materials databases

    DNASUi 27443.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262608 ; ENSP00000262608 ; ENSG00000099954 .
    GeneIDi 27443.
    KEGGi hsa:27443.
    UCSCi uc010gqw.1. human. [Q9BXF3-1 ]

    Organism-specific databases

    CTDi 27443.
    GeneCardsi GC22P017840.
    H-InvDB HIX0023032.
    HGNCi HGNC:1840. CECR2.
    HPAi HPA002943.
    MIMi 607576. gene.
    neXtProti NX_Q9BXF3.
    PharmGKBi PA26383.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5076.
    HOGENOMi HOG000081808.
    HOVERGENi HBG081078.
    PhylomeDBi Q9BXF3.
    TreeFami TF324727.

    Miscellaneous databases

    ChiTaRSi CECR2. human.
    EvolutionaryTracei Q9BXF3.
    GenomeRNAii 27443.
    NextBioi 50516.
    PROi Q9BXF3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BXF3.
    Bgeei Q9BXF3.
    CleanExi HS_CECR2.
    Genevestigatori Q9BXF3.

    Family and domain databases

    Gene3Di 1.20.920.10. 1 hit.
    InterProi IPR001487. Bromodomain.
    IPR018359. Bromodomain_CS.
    IPR029614. CECR2.
    [Graphical view ]
    PANTHERi PTHR22880:SF123. PTHR22880:SF123. 1 hit.
    Pfami PF00439. Bromodomain. 1 hit.
    [Graphical view ]
    PRINTSi PR00503. BROMODOMAIN.
    SMARTi SM00297. BROMO. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47370. SSF47370. 1 hit.
    PROSITEi PS00633. BROMODOMAIN_1. 1 hit.
    PS50014. BROMODOMAIN_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere."
      Footz T.K., Brinkman-Mills P., Banting G.S., Maier S.A., Riazi M.A., Bridgland L.J., Hu S., Birren B., Minoshima S., Shimizu N., Pan H., Nguyen T., Fang F., Fu Y., Ray L., Wu H., Shaull S., Phan S.
      , Yao Z., Chen F., Huan A., Hu P., Wang Q., Loh P., Qi S., Roe B.A., McDermid H.E.
      Genome Res. 11:1053-1070(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), VARIANT LEU-674.
    2. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 36-1484 (ISOFORM C).
      Tissue: Skeletal muscle.
    5. "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
      DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 346-1484 (ISOFORM C), VARIANT LEU-674.
      Tissue: Brain.
    6. "Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity."
      Liu L., McKeehan W.L.
      Genomics 79:124-136(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 168-1484 (ISOFORM B), INTERACTION WITH LRPPRC.
      Tissue: Liver.
    7. "CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L."
      Banting G.S., Barak O., Ames T.M., Burnham A.C., Kardel M.D., Cooch N.S., Davidson C.E., Godbout R., McDermid H.E., Shiekhattar R.
      Hum. Mol. Genet. 14:513-524(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION IN THE CERF COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
    8. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-422; THR-546; SER-571; SER-1014 AND SER-1312, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: X-RAY CRYSTALLOGRAPHY (1.83 ANGSTROMS) OF 424-538, SUBUNIT.

    Entry informationi

    Entry nameiCECR2_HUMAN
    AccessioniPrimary (citable) accession number: Q9BXF3
    Secondary accession number(s): A8MS90
    , A8MX16, Q658Z4, Q96P58, Q9C0C3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 16, 2002
    Last sequence update: September 5, 2006
    Last modified: October 1, 2014
    This is version 112 of the entry and version 2 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

    Miscellaneous

    Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

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