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Q9NVH0

- EXD2_HUMAN

UniProt

Q9NVH0 - EXD2_HUMAN

Protein

Exonuclease 3'-5' domain-containing protein 2

Gene

EXD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 2 (31 Oct 2012)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. 3'-5' exonuclease activity Source: InterPro
    2. nucleic acid binding Source: InterPro

    Keywords - Molecular functioni

    Exonuclease, Hydrolase, Nuclease

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Exonuclease 3'-5' domain-containing protein 2
    Alternative name(s):
    Exonuclease 3'-5' domain-like-containing protein 2
    Gene namesi
    Name:EXD2
    Synonyms:C14orf114, EXDL2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:20217. EXD2.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164719421.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 621621Exonuclease 3'-5' domain-containing protein 2PRO_0000089924Add
    BLAST

    Proteomic databases

    MaxQBiQ9NVH0.
    PaxDbiQ9NVH0.
    PRIDEiQ9NVH0.

    PTM databases

    PhosphoSiteiQ9NVH0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NVH0.
    BgeeiQ9NVH0.
    CleanExiHS_EXDL2.
    GenevestigatoriQ9NVH0.

    Organism-specific databases

    HPAiHPA002906.
    HPA005848.

    Interactioni

    Protein-protein interaction databases

    BioGridi120514. 3 interactions.
    STRINGi9606.ENSP00000193422.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NVH0.
    SMRiQ9NVH0. Positions 99-257.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini155 – 247933'-5' exonucleaseAdd
    BLAST

    Sequence similaritiesi

    Belongs to the EXD2 family.Curated
    Contains 1 3'-5' exonuclease domain.Curated

    Phylogenomic databases

    eggNOGiNOG68878.
    HOGENOMiHOG000046597.
    InParanoidiQ9NVH0.
    OMAiDIPFRSK.
    OrthoDBiEOG773XG0.
    PhylomeDBiQ9NVH0.
    TreeFamiTF324246.

    Family and domain databases

    Gene3Di3.30.420.10. 1 hit.
    InterProiIPR002562. 3'-5'_exonuclease_dom.
    IPR012337. RNaseH-like_dom.
    [Graphical view]
    PfamiPF01612. DNA_pol_A_exo1. 1 hit.
    [Graphical view]
    SMARTiSM00474. 35EXOc. 1 hit.
    [Graphical view]
    SUPFAMiSSF53098. SSF53098. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NVH0-1) [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

    MSRQNLVALT VTTLLGVAVG GFVLWKGIQR RRRSKTSPVT QQPQQKVLGS    50
    RELPPPEDDQ LHSSAPRSSW KERILKAKVV TVSQEAEWDQ IEPLLRSELE 100
    DFPVLGIDCE WVNLEGKASP LSLLQMASPS GLCVLVRLPK LICGGKTLPR 150
    TLLDILADGT ILKVGVGCSE DASKLLQDYG LVVRGCLDLR YLAMRQRNNL 200
    LCNGLSLKSL AETVLNFPLD KSLLLRCSNW DAETLTEDQV IYAARDAQIS 250
    VALFLHLLGY PFSRNSPGEK NDDHSSWRKV LEKCQGVVDI PFRSKGMSRL 300
    GEEVNGEATE SQQKPRNKKS KMDGMVPGNH QGRDPRKHKR KPLGVGYSAR 350
    KSPLYDNCFL HAPDGQPLCT CDRRKAQWYL DKGIGELVSE EPFVVKLRFE 400
    PAGRPESPGD YYLMVKENLC VVCGKRDSYI RKNVIPHEYR KHFPIEMKDH 450
    NSHDVLLLCT SCHAISNYYD NHLKQQLAKE FQAPIGSEEG LRLLEDPERR 500
    QVRSGARALL NAESLPTQRK EELLQALREF YNTDVVTEEM LQEAASLETR 550
    ISNENYVPHG LKVVQCHSQG GLRSLMQLES RWRQHFLDSM QPKHLPQQWS 600
    VDHNHQKLLR KFGEDLPIQL S 621
    Length:621
    Mass (Da):70,353
    Last modified:October 31, 2012 - v2
    Checksum:iCD66A3E68A40C7FF
    GO
    Isoform 2 (identifier: Q9NVH0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-125: Missing.

    Show »
    Length:496
    Mass (Da):56,346
    Checksum:iD07693402FB5BFB6
    GO

    Sequence cautioni

    The sequence CAH10568.1 differs from that shown. Reason: Frameshift at position 269.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti287 – 2871V → G in CAD39094. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti231 – 2311D → N.
    Corresponds to variant rs35010854 [ dbSNP | Ensembl ].
    VAR_050980
    Natural varianti518 – 5181Q → H.2 Publications
    Corresponds to variant rs8007859 [ dbSNP | Ensembl ].
    VAR_050981

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 125125Missing in isoform 2. 3 PublicationsVSP_044367Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK001600 mRNA. Translation: BAA91781.1.
    AK295601 mRNA. Translation: BAG58488.1.
    AL834434 mRNA. Translation: CAD39094.2.
    BX647767 mRNA. Translation: CAH10568.1. Frameshift.
    AL359317 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW80985.1.
    BC001962 mRNA. Translation: AAH01962.1.
    CCDSiCCDS53902.1. [Q9NVH0-1]
    CCDS9793.1. [Q9NVH0-2]
    RefSeqiNP_001180289.1. NM_001193360.1. [Q9NVH0-1]
    NP_001180290.1. NM_001193361.1. [Q9NVH0-1]
    NP_001180291.1. NM_001193362.1. [Q9NVH0-1]
    NP_001180292.1. NM_001193363.1. [Q9NVH0-1]
    NP_060669.1. NM_018199.3. [Q9NVH0-2]
    XP_005267874.1. XM_005267817.1. [Q9NVH0-2]
    XP_006720253.1. XM_006720190.1. [Q9NVH0-1]
    UniGeneiHs.533878.

    Genome annotation databases

    EnsembliENST00000312994; ENSP00000313140; ENSG00000081177. [Q9NVH0-1]
    ENST00000409014; ENSP00000386915; ENSG00000081177. [Q9NVH0-2]
    ENST00000409018; ENSP00000387331; ENSG00000081177. [Q9NVH0-1]
    ENST00000409242; ENSP00000386839; ENSG00000081177. [Q9NVH0-2]
    ENST00000409675; ENSP00000386762; ENSG00000081177. [Q9NVH0-2]
    ENST00000409949; ENSP00000386632; ENSG00000081177. [Q9NVH0-2]
    GeneIDi55218.
    KEGGihsa:55218.
    UCSCiuc001xkt.3. human. [Q9NVH0-1]

    Polymorphism databases

    DMDMi410516875.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK001600 mRNA. Translation: BAA91781.1 .
    AK295601 mRNA. Translation: BAG58488.1 .
    AL834434 mRNA. Translation: CAD39094.2 .
    BX647767 mRNA. Translation: CAH10568.1 . Frameshift.
    AL359317 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW80985.1 .
    BC001962 mRNA. Translation: AAH01962.1 .
    CCDSi CCDS53902.1. [Q9NVH0-1 ]
    CCDS9793.1. [Q9NVH0-2 ]
    RefSeqi NP_001180289.1. NM_001193360.1. [Q9NVH0-1 ]
    NP_001180290.1. NM_001193361.1. [Q9NVH0-1 ]
    NP_001180291.1. NM_001193362.1. [Q9NVH0-1 ]
    NP_001180292.1. NM_001193363.1. [Q9NVH0-1 ]
    NP_060669.1. NM_018199.3. [Q9NVH0-2 ]
    XP_005267874.1. XM_005267817.1. [Q9NVH0-2 ]
    XP_006720253.1. XM_006720190.1. [Q9NVH0-1 ]
    UniGenei Hs.533878.

    3D structure databases

    ProteinModelPortali Q9NVH0.
    SMRi Q9NVH0. Positions 99-257.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120514. 3 interactions.
    STRINGi 9606.ENSP00000193422.

    PTM databases

    PhosphoSitei Q9NVH0.

    Polymorphism databases

    DMDMi 410516875.

    Proteomic databases

    MaxQBi Q9NVH0.
    PaxDbi Q9NVH0.
    PRIDEi Q9NVH0.

    Protocols and materials databases

    DNASUi 55218.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000312994 ; ENSP00000313140 ; ENSG00000081177 . [Q9NVH0-1 ]
    ENST00000409014 ; ENSP00000386915 ; ENSG00000081177 . [Q9NVH0-2 ]
    ENST00000409018 ; ENSP00000387331 ; ENSG00000081177 . [Q9NVH0-1 ]
    ENST00000409242 ; ENSP00000386839 ; ENSG00000081177 . [Q9NVH0-2 ]
    ENST00000409675 ; ENSP00000386762 ; ENSG00000081177 . [Q9NVH0-2 ]
    ENST00000409949 ; ENSP00000386632 ; ENSG00000081177 . [Q9NVH0-2 ]
    GeneIDi 55218.
    KEGGi hsa:55218.
    UCSCi uc001xkt.3. human. [Q9NVH0-1 ]

    Organism-specific databases

    CTDi 55218.
    GeneCardsi GC14P069658.
    HGNCi HGNC:20217. EXD2.
    HPAi HPA002906.
    HPA005848.
    neXtProti NX_Q9NVH0.
    PharmGKBi PA164719421.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG68878.
    HOGENOMi HOG000046597.
    InParanoidi Q9NVH0.
    OMAi DIPFRSK.
    OrthoDBi EOG773XG0.
    PhylomeDBi Q9NVH0.
    TreeFami TF324246.

    Miscellaneous databases

    ChiTaRSi EXD2. human.
    GenomeRNAii 55218.
    NextBioi 59188.
    PROi Q9NVH0.

    Gene expression databases

    ArrayExpressi Q9NVH0.
    Bgeei Q9NVH0.
    CleanExi HS_EXDL2.
    Genevestigatori Q9NVH0.

    Family and domain databases

    Gene3Di 3.30.420.10. 1 hit.
    InterProi IPR002562. 3'-5'_exonuclease_dom.
    IPR012337. RNaseH-like_dom.
    [Graphical view ]
    Pfami PF01612. DNA_pol_A_exo1. 1 hit.
    [Graphical view ]
    SMARTi SM00474. 35EXOc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53098. SSF53098. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "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 1 AND 2), VARIANT HIS-518.
      Tissue: Hippocampus and Teratocarcinoma.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT HIS-518.
      Tissue: Endometrium and Melanoma.
    3. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 2).
      Tissue: Lung.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiEXD2_HUMAN
    AccessioniPrimary (citable) accession number: Q9NVH0
    Secondary accession number(s): B4DIH6
    , G5E947, Q6AWB6, Q8N3D3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 24, 2003
    Last sequence update: October 31, 2012
    Last modified: October 1, 2014
    This is version 111 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3