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Q9NVH0

- EXD2_HUMAN

UniProt

Q9NVH0 - EXD2_HUMAN

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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

Functioni

GO - Molecular functioni

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

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

BgeeiQ9NVH0.
CleanExiHS_EXDL2.
ExpressionAtlasiQ9NVH0. baseline and differential.
GenevestigatoriQ9NVH0.

Organism-specific databases

HPAiHPA002906.
HPA005848.

Interactioni

Protein-protein interaction databases

BioGridi120514. 6 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.
GeneTreeiENSGT00390000014318.
HOGENOMiHOG000046597.
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

        10         20         30         40         50
MSRQNLVALT VTTLLGVAVG GFVLWKGIQR RRRSKTSPVT QQPQQKVLGS
60 70 80 90 100
RELPPPEDDQ LHSSAPRSSW KERILKAKVV TVSQEAEWDQ IEPLLRSELE
110 120 130 140 150
DFPVLGIDCE WVNLEGKASP LSLLQMASPS GLCVLVRLPK LICGGKTLPR
160 170 180 190 200
TLLDILADGT ILKVGVGCSE DASKLLQDYG LVVRGCLDLR YLAMRQRNNL
210 220 230 240 250
LCNGLSLKSL AETVLNFPLD KSLLLRCSNW DAETLTEDQV IYAARDAQIS
260 270 280 290 300
VALFLHLLGY PFSRNSPGEK NDDHSSWRKV LEKCQGVVDI PFRSKGMSRL
310 320 330 340 350
GEEVNGEATE SQQKPRNKKS KMDGMVPGNH QGRDPRKHKR KPLGVGYSAR
360 370 380 390 400
KSPLYDNCFL HAPDGQPLCT CDRRKAQWYL DKGIGELVSE EPFVVKLRFE
410 420 430 440 450
PAGRPESPGD YYLMVKENLC VVCGKRDSYI RKNVIPHEYR KHFPIEMKDH
460 470 480 490 500
NSHDVLLLCT SCHAISNYYD NHLKQQLAKE FQAPIGSEEG LRLLEDPERR
510 520 530 540 550
QVRSGARALL NAESLPTQRK EELLQALREF YNTDVVTEEM LQEAASLETR
560 570 580 590 600
ISNENYVPHG LKVVQCHSQG GLRSLMQLES RWRQHFLDSM QPKHLPQQWS
610 620
VDHNHQKLLR KFGEDLPIQL S
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. Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 6 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.
GeneTreei ENSGT00390000014318.
HOGENOMi HOG000046597.
OMAi DIPFRSK.
OrthoDBi EOG773XG0.
PhylomeDBi Q9NVH0.
TreeFami TF324246.

Miscellaneous databases

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

Gene expression databases

Bgeei Q9NVH0.
CleanExi HS_EXDL2.
ExpressionAtlasi Q9NVH0. baseline and differential.
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 29, 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

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