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Q9NVH0 (EXD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Exonuclease 3'-5' domain-containing protein 2
Alternative name(s):
Exonuclease 3'-5' domain-like-containing protein 2
Gene names
Name:EXD2
Synonyms:C14orf114, EXDL2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length621 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Belongs to the EXD2 family.

Contains 1 3'-5' exonuclease domain.

Sequence caution

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

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionExonuclease
Hydrolase
Nuclease
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_function3'-5' exonuclease activity

Inferred from electronic annotation. Source: InterPro

nucleic acid binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NVH0-1)

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.
Isoform 2 (identifier: Q9NVH0-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 621621Exonuclease 3'-5' domain-containing protein 2
PRO_0000089924

Regions

Domain155 – 247933'-5' exonuclease

Natural variations

Alternative sequence1 – 125125Missing in isoform 2.
VSP_044367
Natural variant2311D → N.
Corresponds to variant rs35010854 [ dbSNP | Ensembl ].
VAR_050980
Natural variant5181Q → H. Ref.1 Ref.2
Corresponds to variant rs8007859 [ dbSNP | Ensembl ].
VAR_050981

Experimental info

Sequence conflict2871V → G in CAD39094. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 31, 2012. Version 2.
Checksum: CD66A3E68A40C7FF

FASTA62170,353
        10         20         30         40         50         60 
MSRQNLVALT VTTLLGVAVG GFVLWKGIQR RRRSKTSPVT QQPQQKVLGS RELPPPEDDQ 

        70         80         90        100        110        120 
LHSSAPRSSW KERILKAKVV TVSQEAEWDQ IEPLLRSELE DFPVLGIDCE WVNLEGKASP 

       130        140        150        160        170        180 
LSLLQMASPS GLCVLVRLPK LICGGKTLPR TLLDILADGT ILKVGVGCSE DASKLLQDYG 

       190        200        210        220        230        240 
LVVRGCLDLR YLAMRQRNNL LCNGLSLKSL AETVLNFPLD KSLLLRCSNW DAETLTEDQV 

       250        260        270        280        290        300 
IYAARDAQIS VALFLHLLGY PFSRNSPGEK NDDHSSWRKV LEKCQGVVDI PFRSKGMSRL 

       310        320        330        340        350        360 
GEEVNGEATE SQQKPRNKKS KMDGMVPGNH QGRDPRKHKR KPLGVGYSAR KSPLYDNCFL 

       370        380        390        400        410        420 
HAPDGQPLCT CDRRKAQWYL DKGIGELVSE EPFVVKLRFE PAGRPESPGD YYLMVKENLC 

       430        440        450        460        470        480 
VVCGKRDSYI RKNVIPHEYR KHFPIEMKDH NSHDVLLLCT SCHAISNYYD NHLKQQLAKE 

       490        500        510        520        530        540 
FQAPIGSEEG LRLLEDPERR QVRSGARALL NAESLPTQRK EELLQALREF YNTDVVTEEM 

       550        560        570        580        590        600 
LQEAASLETR ISNENYVPHG LKVVQCHSQG GLRSLMQLES RWRQHFLDSM QPKHLPQQWS 

       610        620 
VDHNHQKLLR KFGEDLPIQL S 

« Hide

Isoform 2 [UniParc].

Checksum: D07693402FB5BFB6
Show »

FASTA49656,346

References

[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001180289.1. NM_001193360.1.
NP_001180290.1. NM_001193361.1.
NP_001180291.1. NM_001193362.1.
NP_001180292.1. NM_001193363.1.
NP_060669.1. NM_018199.3.
XP_005267874.1. XM_005267817.1.
UniGeneHs.533878.

3D structure databases

ProteinModelPortalQ9NVH0.
SMRQ9NVH0. Positions 75-259.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120514. 1 interaction.
STRING9606.ENSP00000193422.

PTM databases

PhosphoSiteQ9NVH0.

Polymorphism databases

DMDM410516875.

Proteomic databases

PaxDbQ9NVH0.
PRIDEQ9NVH0.

Protocols and materials databases

DNASU55218.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312994; 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]
ENST00000449989; ENSP00000392177; ENSG00000081177. [Q9NVH0-2]
GeneID55218.
KEGGhsa:55218.
UCSCuc001xkt.3. human. [Q9NVH0-1]

Organism-specific databases

CTD55218.
GeneCardsGC14P069658.
HGNCHGNC:20217. EXD2.
HPAHPA002906.
HPA005848.
neXtProtNX_Q9NVH0.
PharmGKBPA164719421.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG68878.
HOGENOMHOG000046597.
InParanoidQ9NVH0.
OMADIPFRSK.
OrthoDBEOG773XG0.
TreeFamTF324246.

Gene expression databases

ArrayExpressQ9NVH0.
BgeeQ9NVH0.
CleanExHS_EXDL2.
GenevestigatorQ9NVH0.

Family and domain databases

Gene3D3.30.420.10. 1 hit.
InterProIPR002562. 3'-5'_exonuclease_dom.
IPR012337. RNaseH-like_dom.
[Graphical view]
PfamPF01612. DNA_pol_A_exo1. 1 hit.
[Graphical view]
SMARTSM00474. 35EXOc. 1 hit.
[Graphical view]
SUPFAMSSF53098. SSF53098. 1 hit.
ProtoNetSearch...

Other

ChiTaRSEXD2. human.
GenomeRNAi55218.
NextBio59188.
PROQ9NVH0.

Entry information

Entry nameEXD2_HUMAN
AccessionPrimary (citable) accession number: Q9NVH0
Secondary accession number(s): B4DIH6 expand/collapse secondary AC list , G5E947, Q6AWB6, Q8N3D3
Entry history
Integrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: October 31, 2012
Last modified: April 16, 2014
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM