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TTYH2
Identifikatori
Aliasi	TTYH2
Vanjski ID-jevi	OMIM: 608855 MGI: 2157091 HomoloGene: 41882 GeneCards: TTYH2
Lokacija gena (čovjek)
Hrom.	Hromosom 17 (čovjek)
Kraj	74,262,020 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	114,611,803 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • chloride channel activity; • intracellular calcium activated chloride channel activity; • volume-sensitive chloride channel activity;
Ćelijska komponenta	• integral component of membrane; • ćelijska membrana; • membrana; • chloride channel complex;
Biološki proces	• chloride transport; • chloride transmembrane transport; • ion transport; • ion transmembrane transport;
	Izvori:Amigo / QuickGO
Ortolozi
	94015
	117160
	ENSG00000141540
	ENSMUSG00000034714
	Q9BSA4
	Q3TH73
	NM_032646; NM_052869; NM_001330453
	NM_053273
	NP_001317382; NP_116035; NP_443101
	NP_444503
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Član 2 porodice Tweety je protein koji je kod ljudi kodiran genom TTYH2.^[5] Članovi ove porodice funkcioniraju kao hloridni kanali. Kodirani protein funkcionira kao kalcij (2 +) aktivirani hloridni kanal (–) velike provodljivosti i može imati ulogu u bubrežnoj tumorogenezi. Za ovaj gen identificirane su dvije varijante transkripta koje kodiraju različite izoforme.

Rae et al. (2001) utvrdili su da gen TTYH2 sadrži 14 egzona, veličine od 56 do 1.888 bp. Analizom FISH-a i genomske sekvence, mapirali su gen TTYH2 u hromosomski segment 17q24. Mapirali su i homolog miša na hromosomu 11.

Dužina polipeptidnog lanca je 534 aminokiseline, a molekulska težina 58.772.^[6]

Aminokiselinska sekvenca

10	20	30	40	50
MQAARVDYIA	PWWVVWLHSV	PHVGLRLQPV	NSTFSPGDES	YQESLLFLGL
VAAVCLGLNL	IFLVAYLVCA	CHCRRDDAVQ	TKQHHSCCIT	WTAVVAGLIC
CAAVGVGFYG	NSETNDGAYQ	LMYSLDDANH	TFSGIDALVS	GTTQKMKVDL
EQHLARLSEI	FAARGDYLQT	LKFIQQMAGS	VVVQLSGLPV	WREVTMELTK
LSDQTGYVEY	YRWLSYLLLF	ILDLVICLIA	CLGLAKRSKC	LLASMLCCGA
LSLLLSWASL	AADGSAAVAT	SDFCVAPDTF	ILNVTEGQIS	TEVTRYYLYC
SQSGSSPFQQ	TLTTFQRALT	TMQIQVAGLL	QFAVPLFSTA	EEDLLAIQLL
LNSSESSLHQ	LTAMVDCRGL	HKDYLDALAG	ICYDGLQGLL	YLGLFSFLAA
LAFSTMICAG	PRAWKHFTTR	NRDYDDIDDD	DPFNPQAWRM	AAHSPPRGQL
HSFCSYSSGL	GSQTSLQPPA	QTISNAPVSE	YMNQAMLFGR	NPRYENVPLI
GRASPPPTYS	PSMRATYLSV	ADEHLRHYGN	QFPA

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

Kloniranje i ekspresija

Koristeći PCR diferencijalnog prikaza, Rae et al. (2001) identificirali su novi genski proizvod koji je pojačan u karcinomima bubrežnih ćelija. Naknadno pretraživanje baza podataka o ovoj sekvenci omogućilo je sastavljanje klona pune dužine, označenog kao TTYH2, homologa Drosophila tweety. Izvedeni protein TTYH2 s 534 aminokiseline ima predviđenu molekulsku masu od 59,3 kD i sadrži pet predviđenih transmembranskih domena, kjednu kazein-kinazu II i dva fosforilacijska mjesta protein-kinaze C, četiri N-vezana mjesta glikozilacije, pet N-miristoilacijskih mjesta i RGD motiv potencijalno sposoban za vezanje integrina.

Protein TTYH2 dijeli 43% i 28% identiteta sekvence s ljudskim odnosno Drosophila tweety TTYH1,. Rae et al. (2001) također klonirali su miša Ttyh2; mišji i ljudski proteini dijele 81% identiteta sekvence. Northern blot analiza ljudskih tkiva otkrila je ekspresiju transkripta od 3,8 kb na najvišim nivoima u mozgu i sjemenicima, na nižim nivoima u jajnicima i srcu i na vrlo niskim nivoima u leukocitima, skeletnim mišićima, slezeni i perifernoj krvi. RT-PCR analiza otkrila je povišenu regulaciju TTYH2 u 13 od 16 (81%) karcinoma bubrežnih ćelija. Suzuki i Mizuno (2004) utvrdili su da je TTYH2 eksprimiran kao Ca (2+) ovisni unutra rektificiranog hloridnog kanala u transficiranim ćelijama jajnika kineskog hrčka. Na osnovu svoje analize tri kanala TTYH, zaključili su da porodica gena tweety kodira hloridne kanale velike provodljivosti.^[7]^[8]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000141540 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034714 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Tweety family member 2".
^ "UniProt, Q9BSA4". Pristupljeno June 14, 2021.
^ Rae, F. K., Hooper, J. D., Eyre, H. J., Sutherland, G. R., Nicol, D. L., Clements, J. A. TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinoma. Genomics 77: 200-207, 2001. PubMed: 11597145
^ Suzuki, M., Mizuno, A. A novel human Cl- channel family related to Drosophila flightless locus. J. Biol. Chem. 279: 22461-22468, 2004. [PubMed]: 15010458

Dopunska literatura

Bisson N, James DA, Ivosev G, Tate SA, Bonner R, Taylor L, Pawson T (juni 2011). "Selected reaction monitoring mass spectrometry reveals the dynamics of signaling through the GRB2 adaptor". Nature Biotechnology. 29 (7): 653–8. doi:10.1038/nbt.1905. PMID 21706016. S2CID 205275786.
Ibarrola N, Molina H, Iwahori A, Pandey A (april 2004). "A novel proteomic approach for specific identification of tyrosine kinase substrates using [13C]tyrosine". The Journal of Biological Chemistry. 279 (16): 15805–13. doi:10.1074/jbc.M311714200. PMID 14739304.
Rae FK, Hooper JD, Eyre HJ, Sutherland GR, Nicol DL, Clements JA (oktobar 2001). "TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinoma". Genomics. 77 (3): 200–7. doi:10.1006/geno.2001.6629. PMID 11597145.
Toiyama Y, Mizoguchi A, Kimura K, Hiro J, Inoue Y, Tutumi T, Miki C, Kusunoki M (maj 2007). "TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is up-regulated in colon carcinoma and involved in cell proliferation and cell aggregation". World Journal of Gastroenterology. 13 (19): 2717–21. doi:10.3748/wjg.v13.i19.2717. PMC 4147121. PMID 17569141.
Suzuki M, Mizuno A (maj 2004). "A novel human Cl(-) channel family related to Drosophila flightless locus". The Journal of Biological Chemistry. 279 (21): 22461–8. doi:10.1074/jbc.M313813200. PMID 15010458.
He Y, Ramsay AJ, Hunt ML, Whitbread AK, Myers SA, Hooper JD (maj 2008). "N-glycosylation analysis of the human Tweety family of putative chloride ion channels supports a penta-spanning membrane arrangement: impact of N-glycosylation on cellular processing of Tweety homologue 2 (TTYH2)". The Biochemical Journal. 412 (1): 45–55. doi:10.1042/BJ20071722. PMID 18260827. S2CID 25166381.
He Y, Hryciw DH, Carroll ML, Myers SA, Whitbread AK, Kumar S, Poronnik P, Hooper JD (august 2008). "The ubiquitin-protein ligase Nedd4-2 differentially interacts with and regulates members of the Tweety family of chloride ion channels". The Journal of Biological Chemistry. 283 (35): 24000–10. doi:10.1074/jbc.M803361200. PMC 3259790. PMID 18577513.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000141540 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034714 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Tweety family member 2".

[UniProt-6] "UniProt, Q9BSA4". Pristupljeno June 14, 2021.

[7] Rae, F. K., Hooper, J. D., Eyre, H. J., Sutherland, G. R., Nicol, D. L., Clements, J. A. TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinoma. Genomics 77: 200-207, 2001. PubMed: 11597145

[8] Suzuki, M., Mizuno, A. A novel human Cl- channel family related to Drosophila flightless locus. J. Biol. Chem. 279: 22461-22468, 2004. [PubMed]: 15010458

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TTYH2

Aminokiselinska sekvenca

Kloniranje i ekspresija

Reference

Dopunska literatura

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