Q9NVH0 (EXD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	621 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Polymorphism
Molecular function	Exonuclease Hydrolase Nuclease
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	nucleic acid phosphodiester bond hydrolysis Inferred from electronic annotation. Source: GOC
Molecular_function	3'-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 621	621	Exonuclease 3'-5' domain-containing protein 2		PRO_0000089924
Regions
	Domain	155 – 247	93	3'-5' exonuclease
Natural variations
	Alternative sequence	1 – 125	125	Missing in isoform 2.		VSP_044367
	Natural variant	231	1	D → N. Corresponds to variant rs35010854 [ dbSNP | Ensembl ].		VAR_050980
	Natural variant	518	1	Q → H. Ref.1 Ref.2 Corresponds to variant rs8007859 [ dbSNP | Ensembl ].		VAR_050981
Experimental info
	Sequence conflict	287	1	V → G in CAD39094. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 31, 2012. Version 2. Checksum: CD66A3E68A40C7FF	FASTA	621	70,353
	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
	Isoform 2 [UniParc]. Checksum: D07693402FB5BFB6	FASTA	496	56,346
	10 20 30 40 50 60 MASPSGLCVL VRLPKLICGG KTLPRTLLDI LADGTILKVG VGCSEDASKL LQDYGLVVRG 70 80 90 100 110 120 CLDLRYLAMR QRNNLLCNGL SLKSLAETVL NFPLDKSLLL RCSNWDAETL TEDQVIYAAR 130 140 150 160 170 180 DAQISVALFL HLLGYPFSRN SPGEKNDDHS SWRKVLEKCQ GVVDIPFRSK GMSRLGEEVN 190 200 210 220 230 240 GEATESQQKP RNKKSKMDGM VPGNHQGRDP RKHKRKPLGV GYSARKSPLY DNCFLHAPDG 250 260 270 280 290 300 QPLCTCDRRK AQWYLDKGIG ELVSEEPFVV KLRFEPAGRP ESPGDYYLMV KENLCVVCGK 310 320 330 340 350 360 RDSYIRKNVI PHEYRKHFPI EMKDHNSHDV LLLCTSCHAI SNYYDNHLKQ QLAKEFQAPI 370 380 390 400 410 420 GSEEGLRLLE DPERRQVRSG ARALLNAESL PTQRKEELLQ ALREFYNTDV VTEEMLQEAA 430 440 450 460 470 480 SLETRISNEN YVPHGLKVVQ CHSQGGLRSL MQLESRWRQH FLDSMQPKHL PQQWSVDHNH 490 QKLLRKFGED LPIQLS

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. , 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. , 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. , 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.
IPI	IPI00465113. IPI00915852.
RefSeq	NP_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.
UniGene	Hs.533878.
3D structure databases
ProteinModelPortal	Q9NVH0.
SMR	Q9NVH0. Positions 99-257.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000193422.
PTM databases
PhosphoSite	Q9NVH0.
Polymorphism databases
DMDM	37999798.
Proteomic databases
PaxDb	Q9NVH0.
PRIDE	Q9NVH0.
Protocols and materials databases
DNASU	55218.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000312994; ENSP00000313140; ENSG00000081177. ENST00000409014; ENSP00000386915; ENSG00000081177. ENST00000409018; ENSP00000387331; ENSG00000081177. ENST00000409242; ENSP00000386839; ENSG00000081177. ENST00000409675; ENSP00000386762; ENSG00000081177. ENST00000409949; ENSP00000386632; ENSG00000081177. ENST00000449989; ENSP00000392177; ENSG00000081177.
GeneID	55218.
KEGG	hsa:55218.
UCSC	uc001xkt.3. human. uc001xkv.3. human.
Organism-specific databases
CTD	55218.
GeneCards	GC14P069658.
HGNC	HGNC:20217. EXD2.
HPA	HPA002906. HPA005848.
neXtProt	NX_Q9NVH0.
PharmGKB	PA164719421.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG68878.
HOGENOM	HOG000046597.
InParanoid	Q9NVH0.
OMA	QVIYAAR.
OrthoDB	EOG4GTKD1.
Gene expression databases
ArrayExpress	Q9NVH0.
Bgee	Q9NVH0.
CleanEx	HS_EXDL2.
Genevestigator	Q9NVH0.
GermOnline	ENSG00000081177. Homo sapiens.
Family and domain databases
InterPro	IPR002562. 3'-5'_exonuclease_dom. IPR012337. RNaseH-like_dom. [Graphical view]
Pfam	PF01612. DNA_pol_A_exo1. 1 hit. [Graphical view]
SMART	SM00474. 35EXOc. 1 hit. [Graphical view]
SUPFAM	SSF53098. RNaseH_fold. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	EXD2. human.
GenomeRNAi	55218.
NextBio	59188.

Entry information

Entry name

EXD2_HUMAN

Accession

Primary (citable) accession number: Q9NVH0
Secondary accession number(s): B4DIH6 , G5E947, Q6AWB6, Q8N3D3

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 24, 2003
Last sequence update:	October 31, 2012
Last modified:	May 29, 2013
This is version 98 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.