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Q9P225 (DYH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
Dynein heavy chain 2, axonemal
Alternative name(s):
Axonemal beta dynein heavy chain 2
Ciliary dynein heavy chain 2
Dynein heavy chain domain-containing protein 3
Gene names
Name:DNAH2
Synonyms:DNAHC2, DNHD3, KIAA1503
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length4427 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly By similarity.

Subunit structure

Consists of at least two heavy chains and a number of intermediate and light chains.

Subcellular location

Cytoplasmcytoskeletoncilium axoneme Potential.

Tissue specificity

Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in lung. Ref.5

Domain

Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function By similarity.

Sequence similarities

Belongs to the dynein heavy chain family.

Contains 5 TPR repeats.

RNA editing

Modified position: not applicable.
Exon 13 included in isoform 3 is extensively edited in brain. Ref.6

Sequence caution

The sequence AK128517 differs from that shown. Reason: Frameshift at position 3963.

The sequence BAA96027.2 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P225-1)

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: Q9P225-2)

The sequence of this isoform differs from the canonical sequence as follows:
     3062-3100: Missing.
     4211-4235: EKGIQGLIVMSTSLEEIFNCIFDAH → EIPSCVSHKSERVVLELSAVKHPRQ
     4236-4427: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9P225-3)

The sequence of this isoform differs from the canonical sequence as follows:
     390-390: K → KMSNEIIRLC...FVQRCKDLIE
     636-790: SLLILFAEID...QREHRAAVQQ → YRSHLAPFPY...SPEPGRQRLQ
     791-4427: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 44274427Dynein heavy chain 2, axonemal
PRO_0000322542

Regions

Repeat1404 – 143936TPR 1
Repeat2721 – 275434TPR 2
Repeat3072 – 310534TPR 3
Repeat4072 – 410433TPR 4
Repeat4105 – 414036TPR 5
Nucleotide binding1803 – 18108ATP Potential
Nucleotide binding2084 – 20918ATP Potential
Nucleotide binding2416 – 24238ATP Potential
Nucleotide binding2762 – 27698ATP Potential
Region1 – 17641764Stem By similarity
Region1765 – 1986222AAA 1 By similarity
Region2046 – 2273228AAA 2 By similarity
Region2378 – 2625248AAA 3 By similarity
Region2722 – 2974253AAA 4 By similarity
Region2989 – 3272284Stalk By similarity
Region3358 – 3588231AAA 5 By similarity
Region3804 – 4023220AAA 6 By similarity
Coiled coil3012 – 304938 Potential
Coiled coil3216 – 330489 Potential
Coiled coil3523 – 356745 Potential

Natural variations

Alternative sequence3901K → KMSNEIIRLCCHAISLDRIF EGYVSSSKEDLQGCILCCHA WKDHYVQAVQMHIQFSSRGW VLDQTSIFAQVDAFVQRCKD LIE in isoform 3.
VSP_031913
Alternative sequence636 – 790155SLLIL…AAVQQ → YRSHLAPFPYTPLLQLSQEF HSHLLTPLFIILSLSHTICL LSSFYFFFSSFIFVSPHLPP CYQHFNFTTYLKTQQNKTMI GQARWLTPVIPALWEAEVGA SLEPRSLRTAWATWQNPVSA KNTKISWAWWHKPVVSATWE GEVGGSPEPGRQRLQ in isoform 3.
VSP_031914
Alternative sequence791 – 44273637Missing in isoform 3.
VSP_031915
Alternative sequence3062 – 310039Missing in isoform 2.
VSP_031916
Alternative sequence4211 – 423525EKGIQ…IFDAH → EIPSCVSHKSERVVLELSAV KHPRQ in isoform 2.
VSP_031917
Alternative sequence4236 – 4427192Missing in isoform 2.
VSP_031918
Natural variant1001A → V.
Corresponds to variant rs35664870 [ dbSNP | Ensembl ].
VAR_039407
Natural variant3121S → T.
Corresponds to variant rs3744254 [ dbSNP | Ensembl ].
VAR_039408
Natural variant13261E → G.
Corresponds to variant rs11868946 [ dbSNP | Ensembl ].
VAR_039409
Natural variant25481R → H.
Corresponds to variant rs11656500 [ dbSNP | Ensembl ].
VAR_039410
Natural variant29041R → H.
Corresponds to variant rs2309808 [ dbSNP | Ensembl ].
VAR_060134
Natural variant36001T → I.
Corresponds to variant rs7213894 [ dbSNP | Ensembl ].
VAR_039411
Isoform 3:
Natural variant8121E → G in RNA edited version.
Natural variant8141E → G in RNA edited version.
Natural variant8261T → A in RNA edited version.
Natural variant8331N → D in RNA edited version.
Natural variant8381K → E in RNA edited version.
Natural variant8391N → D in RNA edited version.
Natural variant8411K → E in RNA edited version.
Natural variant8431S → G in RNA edited version.
Natural variant8551T → A in RNA edited version.
Natural variant8651E → G in RNA edited version.
Natural variant8691Q → R in RNA edited version.
Natural variant8721Q → R in RNA edited version.

Experimental info

Sequence conflict5931E → G in AAH34225. Ref.4

Sequences

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

Last modified February 26, 2008. Version 3.
Checksum: A270F73DBDE2C3C4

FASTA4,427507,698
        10         20         30         40         50         60 
MSSKAEKKQR LSGRGSSQAS WSGRATRAAV ATQEQGNAPA VSEPELQAEL PKEEPEPRLE 

        70         80         90        100        110        120 
GPQAQSEESV EPEADVKPLF LSRAALTGLA DAVWTQEHDA ILEHFAQDPT ESILTIFIDP 

       130        140        150        160        170        180 
CFGLKLELGM PVQTQNQLVY FIRQAPVPIT WENFEATVQF GTVRGPYIPA LLRLLGGVFA 

       190        200        210        220        230        240 
PQIFANTGWP ESIRNHFASH LHKFLACLTD TRYKLEGHTV LYIPAEAMNM KPEMVIKDKE 

       250        260        270        280        290        300 
LVQRLETSMI HWTRQIKEML SAQETVETGE NLGPLEEIEF WRNRCMDLSG ISKQLVKKGV 

       310        320        330        340        350        360 
KHVESILHLA KSSYLAPFMK LAQQIQDGSR QAQSNLTFLS ILKEPYQELA FMKPKDISSK 

       370        380        390        400        410        420 
LPKLISLIRI IWVNSPHYNT RERLTSLFRK VCDCQYHFAR WEDGKQGPLP CFFGAQGPQI 

       430        440        450        460        470        480 
TRNLLEIEDI FHKNLHTLRA VRGGILDVKN TCWHEDYNKF RAGIKDLEVM TQNLITSAFE 

       490        500        510        520        530        540 
LVRDVPHGVL LLDTFHRLAS REAIKRTYDK KAVDLYMLFN SELALVNRER NKKWPDLEPY 

       550        560        570        580        590        600 
VAQYSGKARW VHILRRRIDR VMTCLAGAHF LPRIGTGKES VHTYQQMVQA IDELVRKTFQ 

       610        620        630        640        650        660 
EWTSSLDKDC IRRLDTPLLR ISQEKAGMLD VNFDKSLLIL FAEIDYWERL LFETPHYVVN 

       670        680        690        700        710        720 
VAERAEDLRI LRENLLLVAR DYNRIIAMLS PDEQALFKER IRLLDKKIHP GLKKLHWALK 

       730        740        750        760        770        780 
GASAFFITEC RIHASKVQMI VNEFKASTLT IGWRAQEMSE KLLVRISGKR VYRDLEFEED 

       790        800        810        820        830        840 
QREHRAAVQQ KLMNLHQDVV TIMTNSYEVF KNDGPEIQQQ WMLYMIRLDR MMEDALRLNV 

       850        860        870        880        890        900 
KWSLLELSKA INGDGKTSPN PLFQVLVILK NDLQGSVAQV EFSPTLQTLA GVVNDIGNHL 

       910        920        930        940        950        960 
FSTISVFCHL PDILTKRKLH REPIQTVVEQ DEDIKKIQTQ ISSGMTNNAS LLQNYLKTWD 

       970        980        990       1000       1010       1020 
MYREIWEINK DSFIHRYQRL NPPVSSFVAD IARYTEVANN VQKEETVTNI QFVLLDCSHL 

      1030       1040       1050       1060       1070       1080 
KFSLVQHCNE WQNKFATLLR EMAAGRLLEL HTYLKENAEK ISRPPQTLEE LGVSLQLVDA 

      1090       1100       1110       1120       1130       1140 
LKHDLANVET QIPPIHEQFA ILEKYEVPVE DSVLEMLDSL NGEWVVFQQT LLDSKQMLKK 

      1150       1160       1170       1180       1190       1200 
HKEKFKTGLI HSADDFKKKA HTLLEDFEFK GHFTSNVGYM SALDQITQVR AMLMAMREEE 

      1210       1220       1230       1240       1250       1260 
NSLRANLGIF KIEQPPSKDL QNLEKELDAL QQIWEIARDW EENWNEWKTG RFLILQTETM 

      1270       1280       1290       1300       1310       1320 
ETTAHGLFRR LTKLAKEYKD RNWEIIETTR SKIEQFKRTM PLISDLRNPA LRERHWDQVR 

      1330       1340       1350       1360       1370       1380 
DEIQREFDQE SESFTLEQIV ELGMDQHVEK IGEISASATK ELAIEVALQN IAKTWDVTQL 

      1390       1400       1410       1420       1430       1440 
DIVPYKDKGH HRLRGTEEVF QALEDNQVAL STMKASRFVK AFEKDVDHWE RCLSLILEVI 

      1450       1460       1470       1480       1490       1500 
EMILTVQRQW MYLENIFLGE DIRKQLPNES TLFDQVNSNW KAIMDRMNKD NNALRSTHHP 

      1510       1520       1530       1540       1550       1560 
GLLDTLIEMN TILEDIQKSL DMYLETKRHI FPRFYFLSND DLLEILGQSR NPEAVQPHLK 

      1570       1580       1590       1600       1610       1620 
KCFDNIKLLR IQKVGGPSSK WEAVGMFSGD GEYIDFLHSV FLEGPVESWL GDVEQTMRVT 

      1630       1640       1650       1660       1670       1680 
LRDLLRNCHL ALRKFLNKRD KWVKEWAGQV VITASQIQWT ADVTKCLLTA KERADKKILK 

      1690       1700       1710       1720       1730       1740 
VMKKNQVSIL NKYSEAIRGN LTKIMRLKIV ALVTIEIHAR DVLEKLYKSG LMDVNSFDWL 

      1750       1760       1770       1780       1790       1800 
SQLRFYWEKD LDDCVIRQTN TQFQYNYEYL GNSGRLVITP LTDRCYMTLT TALHLHRGGS 

      1810       1820       1830       1840       1850       1860 
PKGPAGTGKT ETVKDLGKAL GIYVIVVNCS EGLDYKSMGR MYSGLAQTGA WGCFDEFNRI 

      1870       1880       1890       1900       1910       1920 
NIEVLSVVAH QILCILSALA AGLTHFHFDG FEINLVWSCG IFITMNPGYA GRTELPENLK 

      1930       1940       1950       1960       1970       1980 
SMFRPIAMVV PDSTLIAEII LFGEGFGNCK ILAKKVYTLY SLAVQQLSRQ DHYDFGLRAL 

      1990       2000       2010       2020       2030       2040 
TSLLRYAGKK RRLQPDLTDE EVLLLSMRDM NIAKLTSVDA PLFNAIVQDL FPNIELPVID 

      2050       2060       2070       2080       2090       2100 
YGKLRETVEQ EIRDMGLQST PFTLTKVFQL YETKNSRHST MIVGCTGSGK TASWRILQAS 

      2110       2120       2130       2140       2150       2160 
LSSLCRAGDP NFNIVREFPL NPKALSLGEL YGEYDLSTNE WTDGILSSVM RTACADEKPD 

      2170       2180       2190       2200       2210       2220 
EKWILFDGPV DTLWIENMNS VMDDNKVLTL INGERIAMPE QVSLLFEVED LAMASPATVS 

      2230       2240       2250       2260       2270       2280 
RCGMVYTDYA DLGWKPYVQS WLEKRPKAEV EPLQRMFEKL INKMLAFKKD NCKELVPLPE 

      2290       2300       2310       2320       2330       2340 
YSGITSLCKL YSALATPENG VNPADGENYV TMVEMTFVFS MIWSVCASVD EEGRKRIDSY 

      2350       2360       2370       2380       2390       2400 
LREIEGSFPN KDTVYEYFVD PKIRSWTSFE DKLPKSWRYP PNAPFYKIMV PTVDTVRYNY 

      2410       2420       2430       2440       2450       2460 
LVSSLVANQN PILLVGPVGT GKTSIAQSVL QSLPSSQWSV LVVNMSAQTT SNNVQSIIES 

      2470       2480       2490       2500       2510       2520 
RVEKRTKGVY VPFGGKSMIT FMDDLNMPAK DMFGSQPPLE LIRLWIDYGF WYDRTKQTIK 

      2530       2540       2550       2560       2570       2580 
YIREMFLMAA MGPPGGGRTV ISPRLRSRFN IINMTFPTKS QIIRIFGTMI NQKLQDFEEE 

      2590       2600       2610       2620       2630       2640 
VKPIGNVVTE ATLDMYNTVV QRFLPTPTKM HYLFNLRDIS KVFQGMLRAN KDFHDTKSSI 

      2650       2660       2670       2680       2690       2700 
TRLWIHECFR VFSDRLVDAA DTEAFMGIIS DKLGSFFDLT FHHLCPSKRP PIFGDFLKEP 

      2710       2720       2730       2740       2750       2760 
KVYEDLTDLT VLKTVMETAL NEYNLSPSVV PMQLVLFREA IEHITRIVRV IGQPRGNMLL 

      2770       2780       2790       2800       2810       2820 
VGIGGSGRQS LARLASSICD YTTFQIEVTK HYRKQEFRDD IKRLYRQAGV ELKTTSFIFV 

      2830       2840       2850       2860       2870       2880 
DTQIADESFL EDINNILSSG EVPNLYKPDE FEEIQSHIID QARVEQVPES SDSLFAYLIE 

      2890       2900       2910       2920       2930       2940 
RVQNNLHIVL CLSPMGDPFR NWIRQYPALV NCTTINWFSE WPQEALLEVA EKCLIGVDLG 

      2950       2960       2970       2980       2990       3000 
TQENIHRKVA QIFVTMHWSV AQYSQKMLLE LRRHNYVTPT KYLELLSGYK KLLGEKRQEL 

      3010       3020       3030       3040       3050       3060 
LAQANKLRTG LFKIDETREK VQVMSLELED AKKKVAEFQK QCEEYLVIIV QQKREADEQQ 

      3070       3080       3090       3100       3110       3120 
KAVTANSEKI AVEEIKCQAL ADNAQKDLEE ALPALEEAMR ALESLNKKDI GEIKSYGRPP 

      3130       3140       3150       3160       3170       3180 
AQVEIVMQAV MILRGNEPTW AEAKRQLGEQ NFIKSLINFD KDNISDKVLK KIGAYCAQPD 

      3190       3200       3210       3220       3230       3240 
FQPDIIGRVS LAAKSLCMWV RAMELYGRLY RVVEPKRIRM NAALAQLREK QAALAEAQEK 

      3250       3260       3270       3280       3290       3300 
LREVAEKLEM LKKQYDEKLA QKEELRKKSE EMELKLERAG MLVSGLAGEK ARWEETVQGL 

      3310       3320       3330       3340       3350       3360 
EEDLGYLVGD CLLAAAFLSY MGPFLTNYRD EIVNQIWIGK IWELQVPCSP SFAIDNFLCN 

      3370       3380       3390       3400       3410       3420 
PTKVRDWNIQ GLPSDAFSTE NGIIVTRGNR WALMIDPQAQ ALKWIKNMEG GQGLKIIDLQ 

      3430       3440       3450       3460       3470       3480 
MSDYLRILEH AIHFGYPVLL QNVQEYLDPT LNPMLNKSVA RIGGRLLMRI GDKEVEYNTN 

      3490       3500       3510       3520       3530       3540 
FRFYITTKLS NPHYSPETSA KTTIVNFAVK EQGLEAQLLG IVVRKERPEL EEQKDSLVIN 

      3550       3560       3570       3580       3590       3600 
IAAGKRKLKE LEDEILRLLN EATGSLLDDV QLVNTLHTSK ITATEVTEQL ETSETTEINT 

      3610       3620       3630       3640       3650       3660 
DLAREAYRPC AQRASILFFV LNDMGCIDPM YQFSLDAYIS LFILSIDKSH RSNKLEDRID 

      3670       3680       3690       3700       3710       3720 
YLNDYHTYAV YRYTCRTLFE RHKLLFSFHM CAKILETSGK LNMDEYNFFL RGGVVLDREG 

      3730       3740       3750       3760       3770       3780 
QMDNPCSSWL ADAYWDNITE LDKLTNFHGL MNSFEQYPRD WHLWYTNAAP EKAMLPGEWE 

      3790       3800       3810       3820       3830       3840 
NACNEMQRML IVRSLRQDRV AFCVTSFIIT NLGSRFIEPP VLNMKSVLED STPRSPLVFI 

      3850       3860       3870       3880       3890       3900 
LSPGVDPTSA LLQLAEHMGM AQRFHALSLG QGQAPIAARL LREGVTQGHW VFLANCHLSL 

      3910       3920       3930       3940       3950       3960 
SWMPNLDKLV EQLQVEDPHP SFRLWLSSIP HPDFPISILQ VSIKMTTEPP KGLKANMTRL 

      3970       3980       3990       4000       4010       4020 
YQLMSEPQFS RCSKPAKYKK LLFSLCFFHS VLLERKKFLQ LGWNIIYGFN DSDFEVSENL 

      4030       4040       4050       4060       4070       4080 
LSLYLDEYEE TPWDALKYLI AGINYGGHVT DDWDRRLLTT YINDYFCDQS LSTPFHRLSA 

      4090       4100       4110       4120       4130       4140 
LETYFIPKDG SLASYKEYIS LLPGMDPPEA FGQHPNADVA SQITEAQTLF DTLLSLQPQI 

      4150       4160       4170       4180       4190       4200 
TPTRAGGQTR EEKVLELAAD VKQKIPEMID YEGTQKLLAL DPSPLNVVLL QEIQRYNTLM 

      4210       4220       4230       4240       4250       4260 
QTILFSLTDL EKGIQGLIVM STSLEEIFNC IFDAHVPPLW GKAYPSQKPL AAWTRDLAMR 

      4270       4280       4290       4300       4310       4320 
VEQFELWASR ARPPVIFWLS GFTFPTGFLT AVLQSSARQN NVSVDSLSWE FIVSTVDDSN 

      4330       4340       4350       4360       4370       4380 
LVYPPKDGVW VRGLYLEGAG WDRKNSCLVE AEPMQLVCLM PTIHFRPAES RKKSAKGMYS 

      4390       4400       4410       4420 
CPCYYYPNRA GSSDRASFVI GIDLRSGAMT PDHWIKRGTA LLMSLDS 

« Hide

Isoform 2 [UniParc].

Checksum: 9E166534301BA935
Show »

FASTA4,196481,999
Isoform 3 [UniParc].

Checksum: C8AF185FABA6E9C5
Show »

FASTA87299,915

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3013-4427 (ISOFORM 2).
Tissue: Testis and Trachea.
[3]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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 3).
Tissue: Testis.
[5]"Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment."
Chapelin C., Duriez B., Magnino F., Goossens M., Escudier E., Amselem S.
FEBS Lett. 412:325-330(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1820-1902 (ISOFORM 1), TISSUE SPECIFICITY.
[6]"Inosine cyanoethylation identifies A-to-I RNA editing sites in the human transcriptome."
Sakurai M., Yano T., Kawabata H., Ueda H., Suzuki T.
Nat. Chem. Biol. 6:733-740(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: RNA EDITING VARIANTS (ISOFORM 3).
Tissue: Brain.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB040936 mRNA. Translation: BAA96027.2. Different initiation.
AK128517 mRNA. No translation available.
AK292607 mRNA. Translation: BAF85296.1.
AC025335 Genomic DNA. No translation available.
AC087388 Genomic DNA. No translation available.
BC034225 mRNA. Translation: AAH34225.1.
U83570 Genomic DNA. Translation: AAB82760.1.
RefSeqNP_065928.2. NM_020877.2.
XP_005256527.1. XM_005256470.1.
UniGeneHs.367649.

3D structure databases

ProteinModelPortalQ9P225.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127007. 3 interactions.
IntActQ9P225. 1 interaction.
STRING9606.ENSP00000373825.

PTM databases

PhosphoSiteQ9P225.

Polymorphism databases

DMDM172044680.

Proteomic databases

PaxDbQ9P225.
PRIDEQ9P225.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000082259; ENSP00000082259; ENSG00000183914. [Q9P225-3]
ENST00000389173; ENSP00000373825; ENSG00000183914. [Q9P225-1]
ENST00000570791; ENSP00000460245; ENSG00000183914. [Q9P225-3]
ENST00000572933; ENSP00000458355; ENSG00000183914. [Q9P225-1]
GeneID146754.
KEGGhsa:146754.
UCSCuc002git.3. human. [Q9P225-3]
uc002giu.1. human. [Q9P225-1]

Organism-specific databases

CTD146754.
GeneCardsGC17P007623.
H-InvDBHIX0202391.
HGNCHGNC:2948. DNAH2.
MIM603333. gene.
neXtProtNX_Q9P225.
PharmGKBPA27401.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5245.
HOGENOMHOG000237308.
HOVERGENHBG104828.
InParanoidQ9P225.
KOK10408.
OMAKISRPPQ.
OrthoDBEOG7F5115.
PhylomeDBQ9P225.
TreeFamTF316836.

Gene expression databases

ArrayExpressQ9P225.
BgeeQ9P225.
CleanExHS_DNAH2.
GenevestigatorQ9P225.

Family and domain databases

Gene3D3.40.50.300. 4 hits.
InterProIPR003593. AAA+_ATPase.
IPR011704. ATPase_dyneun-rel_AAA.
IPR026983. DHC_fam.
IPR026976. DNAH2.
IPR024743. Dynein_HC_stalk.
IPR024317. Dynein_heavy_chain_D4_dom.
IPR004273. Dynein_heavy_dom.
IPR013594. Dynein_heavy_dom-1.
IPR013602. Dynein_heavy_dom-2.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR10676. PTHR10676. 1 hit.
PTHR10676:SF130. PTHR10676:SF130. 1 hit.
PfamPF07728. AAA_5. 1 hit.
PF12780. AAA_8. 1 hit.
PF08385. DHC_N1. 2 hits.
PF08393. DHC_N2. 1 hit.
PF03028. Dynein_heavy. 1 hit.
PF12777. MT. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 5 hits.
ProtoNetSearch...

Other

GenomeRNAi146754.
NextBio85439.
PROQ9P225.
SOURCESearch...

Entry information

Entry nameDYH2_HUMAN
AccessionPrimary (citable) accession number: Q9P225
Secondary accession number(s): A8K992 expand/collapse secondary AC list , B5MDX5, O15434, Q6PIH3, Q6ZR42
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: April 16, 2014
This is version 93 of the entry and version 3 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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 17

Human chromosome 17: entries, gene names and cross-references to MIM