Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 2, mRNA.
| RefSeq Version | NM_001190458.1, 299473743 |
| Length | 7159 bp |
| Structure | linear |
| Update Date | 21-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 2, mRNA. |
| Product | dedicator of cytokinesis protein 8 isoform 2 |
| Comment | Summary: This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This variant also lacks an in-frame exon in the middle portion of the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. |
| RefSeq | NP_001177387.1 |
| CDS | 102..6101 | Exon (1) | 1..53 | Exon (2) | 1..53 | Exon (3) | 54..229 | Exon (4) | 230..301 | Exon (5) | 302..425 | Exon (6) | 426..638 | Exon (7) | 639..724 | Exon (8) | 725..791 | Exon (9) | 792..941 | Exon (10) | 942..1022 | Exon (11) | 1023..1182 | Exon (12) | 1183..1319 | Exon (13) | 1320..1413 | Exon (14) | 1414..1576 | Exon (15) | 1577..1694 | Exon (16) | 1695..1765 | Exon (17) | 1766..1904 | Exon (18) | 1905..2006 | Exon (19) | 2007..2102 | Exon (20) | 2103..2337 | Exon (21) | 2338..2502 | Exon (22) | 2503..2675 | Exon (23) | 2676..2771 | Exon (24) | 2772..2921 | Exon (25) | 2922..3035 | Exon (26) | 3036..3191 | Exon (27) | 3192..3331 | Exon (28) | 3332..3501 | Exon (29) | 3502..3641 | Exon (30) | 3642..3824 | Exon (31) | 3825..3954 | Exon (32) | 3955..4042 | Exon (33) | 4043..4139 | Exon (34) | 4140..4274 | Exon (35) | 4275..4427 | Exon (36) | 4428..4586 | Exon (37) | 4587..4687 | Exon (38) | 4688..4880 | Exon (39) | 4881..5024 | Exon (40) | 5025..5156 | Exon (41) | 5157..5291 | Exon (42) | 5292..5381 | Exon (43) | 5382..5618 | Exon (44) | 5619..5762 | Exon (45) | 5763..5869 | Exon (46) | 5870..6040 | Exon (47) | 6041..7141 |
| Translation | MTHLNSLDVQLAQELGDFTDDDLDVVFTPKECRTLQPSLPEEGVELDPHVRDCVQTYIRE
WLIVNRKNQGSPEICGFKKTGSRKDFHKTLPKQTFESETLECSEPAAQAGPRHLNVLCDV
SGKGPVTACDFDLRSLQPDKRLENLLQQVSAEDFEKQNEEARRTNRQAELFALYPSVDEE
DAVEIRPVPECPKEHLGNRILVKLLTLKFEIEIEPLFASIALYDVKERKKISENFHCDLN
SDQFKGFLRAHTPSVAASSQARSAVFSVTYPSSDIYLVVKIEKVLQQGEIGDCAEPYTVI
KESDGGKSKEKIEKLKLQAESFCQRLGKYRMPFAWAPISLSSFFNVSTLEREVTDVDSVV
GRSSVGERRTLAQSRRLSERALSLEENGVGSNFKTSTLSVSSFFKQEGDRLSDEDLFKFL
ADYKRSSSLQRRVKSIPGLLRLEISTAPEIINCCLTPEMLPVKPFPENRTRPHKEILEFP
TREVYVPHTVYRNLLYVYPQRLNFVNKLASARNITIKIQFMCGEDASNAMPVIFGKSSGP
EFLQEVYTAVTYHNKSPDFYEEVKIKLPAKLTVNHHLLFTFYHISCQQKQGASVETLLGY
SWLPILLNERLQTGSYCLPVALEKLPPNYSMHSAEKVPLQNPPIKWAEGHKGVFNIEVQA
VSSVHTQDNHLEKFFTLCHSLESQVTFPIRVLDQKISEMALEHELKLSIICLNSSRLEPL
VLFLHLVLDKLFQLSVQPMVIAGQTANFSQFAFESVVAIANSLHNSKDLSKDQHGRNCLL
ASYVHYVFRLPEVQRDVPKSGAPTALLDPRSYHTYGRTSAAAVSSKLLQARVMSSSNPDL
AGTHSAADEEVKNIMSSKHFHEELALQMVVSTGMVRETVFKYAWFFFELLVKSMAQHVHN
MDKRDSFRRTRFSDRFMDDITTIVNVVTSEIAALLVKPQKENEQAEKMNISLAFFLYDLL
SLMDRGFVFNLIRHYCSQLSAKLSNLPTLISMRLEFLRILCSHEHYLNLNLFFMNADTAP
TSPCPSISSQNSSSCSSFQDQKIASMFDLTSEYRQQHFLTGLLFTELAAALDAEGEGISK
VQRKAVSAIHSLLSSHDLDPRCVKPEVKVKIAALYLPLVGIILDALPQLCDFTVADTRRY
RTSGSDEEQEGAGAINQNVALAIAGNNFNLKTSGIVLSSLPYKQYNMLNADTTRNLMICF
LWIMKNADQSLIRKWIADLPSTQLNRILDLLFICVLCFEYKGKQSSDKVSTQVLQKSRDV
KARLEEALLRGEGARGEMMRRRAPGNDRFPGLNENLRWKKEQTHWRQANEKLDKTKAELD
QEALISGNLATEAHLIILDMQENIIQASSALDCKDSLLGGVLRVLVNSLNCDQSTTYLTH
CFATLRALIAKFGDLLFEEEVEQCFDLCHQVLHHCSSSMDVTRSQACATLYLLMRFSFGA
TSNFARVKMQVTMSLASLVGRAPDFNEEHLRRSLRTILAYSEEDTAMQMTPFPTQVEELL
CNLNSILYDTVKMREFQEDPEMLMDLMYRIAKSYQASPDLRLTWLQNMAEKHTKKKCYTE
AAMCLVHAAALVAEYLSMLEDHSYLPVGSVSFQNISSNVLEESVVSEDTLSPDEDGVCAG
QYFTESGLVGLLEQAAELFSTGGLYETVNEVYKLVIPILEAHREFRKLTLTHSKLQRAFD
SIVNKDHKRMFGTYFRVGFFGSKFGDLDEQEFVYKEPAITKLPEISHRLEAFYGQCFGAE
FVEVIKDSTPVDKTKLDPNKAYIQITFVEPYFDEYEMKDRVTYFEKNFNLRRFMYTTPFT
LEGRPRGELHEQYRRNTVLTTMHAFPYIKTRISVIQKEEFVLTPIEVAIEDMKKKTLQLA
VAINQEPPDAKMLQMVLQGSVGATVNQGPLEVAQVFLAEIPADPKLYRHHNKLRLCFKEF
IMRCGEAVEKNKRLITADQREYQQELKKNYNKLKENLRPMIERKIPELYKPIFRVESQKR
DSFHRSSFRKCETQLSQGS
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| Gene Symbol | DOCK8 |
| Gene Synonym | FLJ00026; FLJ00152; FLJ00346; MRD2; ZIR8 |
| Chromosome | 9 |
| Locus Map | 9p24.3 |
| All Transcripts | NM_001190458 , NM_203447 , NM_001193536 |
| Title | Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation . |
| Author | Bittner,T.C., Pannicke,U., Renner,E.D., Notheis,G., Hoffmann,F., Belohradsky,B.H., Wintergerst,U., Hauser,M., Klein,B., Schwarz,K., Schmid,I. and Albert,M.H. |
| Journal | Klin Padiatr 222 (6), 351-355 (2010) |
| Title | Frequent silence of chromosome 9p, homozygous DOCK8, DMRT1 and DMRT3 deletion at 9p24.3 in squamous cell carcinoma of the lung . |
| Author | Kang,J.U., Koo,S.H., Kwon,K.C. and Park,J.W. |
| Journal | Int. J. Oncol. 37 (2), 327-335 (2010) |
| Title | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . |
| Author | Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R. |
| Journal | Mol. Med. 16 (7-8), 247-253 (2010) |
| Title | Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome . |
| Author | Zhang,Q., Davis,J.C., Dove,C.G. and Su,H.C. |
| Journal | Dis. Markers 29 (3-4), 131-139 (2010) |
| Title | Clinical manifestations of hyper IgE syndromes . |
| Author | Freeman,A.F. and Holland,S.M. |
| Journal | Dis. Markers 29 (3-4), 123-130 (2010) |
| Title | Novel PNLIPRP3 and DOCK8 gene expression and prognostic implications of DNA loss on chromosome 10q25.3 in hepatocellular carcinoma . |
| Author | Saelee,P., Wongkham,S., Puapairoj,A., Khuntikeo,N., Petmitr,S., Chariyalertsak,S., Sumethchotimaytha,W. and Karalak,A. |
| Journal | Asian Pac. J. Cancer Prev. 10 (3), 501-506 (2009) |
| Title | Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities . |
| Author | Griggs,B.L., Ladd,S., Saul,R.A., DuPont,B.R. and Srivastava,A.K. |
| Journal | Genomics 91 (2), 195-202 (2008) |
| Title | Homozygous deletion and reduced expression of the DOCK8 gene in human lung cancer . |
| Author | Takahashi,K., Kohno,T., Ajima,R., Sasaki,H., Minna,J.D., Fujiwara,T., Tanaka,N. and Yokota,J. |
| Journal | Int. J. Oncol. 28 (2), 321-328 (2006) |
| Title | Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology . |
| Author | Ruusala,A. and Aspenstrom,P. |
| Journal | FEBS Lett. 572 (1-3), 159-166 (2004) |
| Title | Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity . |
| Author | Cote,J.F. and Vuori,K. |
| Journal | J. Cell. Sci. 115 (PT 24), 4901-4913 (2002) |
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