Q9BSA4 (TTYH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein tweety homolog 2
Short name=hTTY2

Gene names

Name:	TTYH2
Synonyms:	C17orf29

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	534 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probable large-conductance Ca2+-activated chloride channel. May play a role in Ca2+ signal transduction. May be involved in cell proliferation and cell aggregation. Ref.6
Subcellular location	Cell membrane; Multi-pass membrane protein By similarity.
Tissue specificity	Expressed at higher level in brain and testis and at lower levels in heart, ovary, spleen and peripheral blood leukocytes. Up-regulated in 13 of 16 renal cell carcinoma samples examined. Up-regulated in colon carcinoma. Ref.1 Ref.8
Sequence similarities	Belongs to the tweety family.
Sequence caution	The sequence AAH05168.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAC03579.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Calcium Chloride
Molecular function	Chloride channel Ion channel
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	chloride channel complex Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	chloride channel activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BSA4-1)

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: Q9BSA4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-321: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 534	534	Protein tweety homolog 2		PRO_0000312246
Regions
	Topological domain	1 – 44	44	Extracellular Potential
	Transmembrane	45 – 65	21	Helical; Name=1; Potential
	Topological domain	66 – 87	22	Cytoplasmic Potential
	Transmembrane	88 – 108	21	Helical; Name=2; Potential
	Topological domain	109 – 213	105	Extracellular Potential
	Transmembrane	214 – 234	21	Helical; Name=3; Potential
	Topological domain	235 – 240	6	Cytoplasmic Potential
	Transmembrane	241 – 261	21	Helical; Name=4; Potential
	Topological domain	262 – 388	127	Extracellular Potential
	Transmembrane	389 – 409	21	Helical; Name=5; Potential
	Topological domain	410 – 534	125	Cytoplasmic Potential
	Compositional bias	423 – 431	9	Poly-Asp
Amino acid modifications
	Modified residue	199	1	Phosphothreonine Ref.7
	Glycosylation	31	1	N-linked (GlcNAc...) Potential
	Glycosylation	283	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 321	321	Missing in isoform 2.		VSP_040567
	Natural variant	11	1	P → H. Corresponds to variant rs11538875 [ dbSNP | Ensembl ].		VAR_037460
	Natural variant	85	1	H → D. Corresponds to variant rs11538876 [ dbSNP | Ensembl ].		VAR_037461
	Natural variant	262	1	A → T. Ref.4 Corresponds to variant rs35682745 [ dbSNP | Ensembl ].		VAR_037462
	Natural variant	265	1	S → A. Ref.2 Ref.4 Corresponds to variant rs35999669 [ dbSNP | Ensembl ].		VAR_037463
	Natural variant	409	1	A → E. Corresponds to variant rs9892705 [ dbSNP | Ensembl ].		VAR_057791
	Natural variant	419	1	T → I. Corresponds to variant rs12600564 [ dbSNP | Ensembl ].		VAR_037464
	Natural variant	423	1	D → E. Ref.2 Ref.4 Corresponds to variant rs9899862 [ dbSNP | Ensembl ].		VAR_037465
Experimental info
	Sequence conflict	4	1	A → S in AAL16784. Ref.1
	Sequence conflict	181	1	V → I in AAL16784. Ref.1
	Sequence conflict	181	1	V → I in BAC03579. Ref.2
	Sequence conflict	388	1	G → V in BAG54409. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: CD59065DD53B309C	FASTA	534	58,772
	10 20 30 40 50 60 MQAARVDYIA PWWVVWLHSV PHVGLRLQPV NSTFSPGDES YQESLLFLGL VAAVCLGLNL 70 80 90 100 110 120 IFLVAYLVCA CHCRRDDAVQ TKQHHSCCIT WTAVVAGLIC CAAVGVGFYG NSETNDGAYQ 130 140 150 160 170 180 LMYSLDDANH TFSGIDALVS GTTQKMKVDL EQHLARLSEI FAARGDYLQT LKFIQQMAGS 190 200 210 220 230 240 VVVQLSGLPV WREVTMELTK LSDQTGYVEY YRWLSYLLLF ILDLVICLIA CLGLAKRSKC 250 260 270 280 290 300 LLASMLCCGA LSLLLSWASL AADGSAAVAT SDFCVAPDTF ILNVTEGQIS TEVTRYYLYC 310 320 330 340 350 360 SQSGSSPFQQ TLTTFQRALT TMQIQVAGLL QFAVPLFSTA EEDLLAIQLL LNSSESSLHQ 370 380 390 400 410 420 LTAMVDCRGL HKDYLDALAG ICYDGLQGLL YLGLFSFLAA LAFSTMICAG PRAWKHFTTR 430 440 450 460 470 480 NRDYDDIDDD DPFNPQAWRM AAHSPPRGQL HSFCSYSSGL GSQTSLQPPA QTISNAPVSE 490 500 510 520 530 YMNQAMLFGR NPRYENVPLI GRASPPPTYS PSMRATYLSV ADEHLRHYGN QFPA
	Isoform 2 [UniParc]. Checksum: 433E2A4DFD0DA7DC	FASTA	213	23,562
	10 20 30 40 50 60 MQIQVAGLLQ FAVPLFSTAE EDLLAIQLLL NSSESSLHQL TAMVDCRGLH KDYLDALAGI 70 80 90 100 110 120 CYDGLQGLLY LGLFSFLAAL AFSTMICAGP RAWKHFTTRN RDYDDIDDDD PFNPQAWRMA 130 140 150 160 170 180 AHSPPRGQLH SFCSYSSGLG SQTSLQPPAQ TISNAPVSEY MNQAMLFGRN PRYENVPLIG 190 200 210 RASPPPTYSP SMRATYLSVA DEHLRHYGNQ FPA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinoma." Rae F.K., Hooper J.D., Eyre H.J., Sutherland G.R., Nicol D.L., Clements J.A. Genomics 77:200-207(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[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. , 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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 97-534 (ISOFORM 1), VARIANTS ALA-265 AND GLU-423. Tissue: Hippocampus.
[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. , 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 1), VARIANTS THR-262; ALA-265 AND GLU-423. Tissue: Lymph.
[5]	"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] OF 269-534 (ISOFORM 1). Tissue: Cervix.
[6]	"A novel human Cl(-) channel family related to Drosophila flightless locus." Suzuki M., Mizuno A. J. Biol. Chem. 279:22461-22468(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[7]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-199, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is up-regulated in colon carcinoma and involved in cell proliferation and cell aggregation." Toiyama Y., Mizoguchi A., Kimura K., Hiro J., Inoue Y., Tutumi T., Miki C., Kusunoki M. World J. Gastroenterol. 13:2717-2721(2007) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF319952 mRNA. Translation: AAL16784.1. AK126955 mRNA. Translation: BAG54409.1. AK091085 mRNA. Translation: BAC03579.1. Different initiation. AC100786 Genomic DNA. No translation available. BC005168 mRNA. Translation: AAH05168.1. Different initiation. BC107492 mRNA. Translation: AAI07493.1. BC107602 mRNA. Translation: AAI07603.1. BX647912 mRNA. Translation: CAH10576.1.
IPI	IPI00305281. IPI00470343.
RefSeq	NP_116035.5. NM_032646.5. NP_443101.1. NM_052869.1.
UniGene	Hs.27935.
3D structure databases
ProteinModelPortal	Q9BSA4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BSA4. 2 interactions.
MINT	MINT-2814893.
STRING	9606.ENSP00000269346.
Protein family/group databases
TCDB	1.A.48.1.3. anion channel tweety family.
PTM databases
PhosphoSite	Q9BSA4.
Polymorphism databases
DMDM	296453009.
Proteomic databases
PaxDb	Q9BSA4.
PRIDE	Q9BSA4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000269346; ENSP00000269346; ENSG00000141540. ENST00000441391; ENSP00000394576; ENSG00000141540.
GeneID	94015.
KEGG	hsa:94015.
UCSC	uc002jkc.3. human. uc002jkd.3. human.
Organism-specific databases
CTD	94015.
GeneCards	GC17P072231.
HGNC	HGNC:13877. TTYH2.
MIM	608855. gene.
neXtProt	NX_Q9BSA4.
PharmGKB	PA37823.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG250159.
HOVERGEN	HBG102014.
InParanoid	Q9BSA4.
OMA	PWWVVWL.
OrthoDB	EOG49ZXP9.
Gene expression databases
ArrayExpress	Q9BSA4.
Bgee	Q9BSA4.
CleanEx	HS_TTYH2.
Genevestigator	Q9BSA4.
Family and domain databases
InterPro	IPR006990. Tweety. [Graphical view]
PANTHER	PTHR12424. PTHR12424. 1 hit.
Pfam	PF04906. Tweety. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TTYH2. human.
GenomeRNAi	94015.
NextBio	78300.
SOURCE	Search...

Entry information

Entry name

TTYH2_HUMAN

Accession

Primary (citable) accession number: Q9BSA4
Secondary accession number(s): B3KX97 , Q3B7H8, Q3B7R9, Q6AWB4, Q8NBB7, Q96PK1

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 4, 2007
Last sequence update:	May 18, 2010
Last modified:	May 29, 2013
This is version 81 of the entry and version 3 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.