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Protein

Protein tweety homolog 2

Gene

TTYH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Probable large-conductance Ca2+-activated chloride channel. May play a role in Ca2+ signal transduction. May be involved in cell proliferation and cell aggregation.1 Publication

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Calcium, Chloride

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Protein family/group databases

TCDBi1.A.48.1.3. the anion channel tweety (tweety) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein tweety homolog 2
Short name:
hTTY2
Gene namesi
Name:TTYH2
Synonyms:C17orf29
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:13877. TTYH2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4444ExtracellularSequence analysisAdd
BLAST
Transmembranei45 – 6521Helical; Name=1Sequence analysisAdd
BLAST
Topological domaini66 – 8722CytoplasmicSequence analysisAdd
BLAST
Transmembranei88 – 10821Helical; Name=2Sequence analysisAdd
BLAST
Topological domaini109 – 213105ExtracellularSequence analysisAdd
BLAST
Transmembranei214 – 23421Helical; Name=3Sequence analysisAdd
BLAST
Topological domaini235 – 2406CytoplasmicSequence analysis
Transmembranei241 – 26121Helical; Name=4Sequence analysisAdd
BLAST
Topological domaini262 – 388127ExtracellularSequence analysisAdd
BLAST
Transmembranei389 – 40921Helical; Name=5Sequence analysisAdd
BLAST
Topological domaini410 – 534125CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA37823.

Polymorphism and mutation databases

BioMutaiTTYH2.
DMDMi296453009.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 534534Protein tweety homolog 2PRO_0000312246Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi31 – 311N-linked (GlcNAc...)Sequence analysis
Modified residuei199 – 1991PhosphothreonineCombined sources
Glycosylationi283 – 2831N-linked (GlcNAc...)Sequence analysis
Modified residuei504 – 5041PhosphoserineBy similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9BSA4.
PaxDbiQ9BSA4.
PeptideAtlasiQ9BSA4.
PRIDEiQ9BSA4.

PTM databases

iPTMnetiQ9BSA4.
PhosphoSiteiQ9BSA4.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiQ9BSA4.
CleanExiHS_TTYH2.
ExpressionAtlasiQ9BSA4. baseline and differential.
GenevisibleiQ9BSA4. HS.

Interactioni

Protein-protein interaction databases

BioGridi125087. 5 interactions.
IntActiQ9BSA4. 3 interactions.
MINTiMINT-2814893.
STRINGi9606.ENSP00000269346.

Structurei

3D structure databases

ProteinModelPortaliQ9BSA4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi423 – 4319Poly-Asp

Sequence similaritiesi

Belongs to the tweety family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4433. Eukaryota.
ENOG410ZNTN. LUCA.
GeneTreeiENSGT00390000010182.
HOVERGENiHBG102014.
InParanoidiQ9BSA4.
OMAiRSKCLLA.
PhylomeDBiQ9BSA4.
TreeFamiTF319025.

Family and domain databases

InterProiIPR006990. Tweety.
[Graphical view]
PANTHERiPTHR12424. PTHR12424. 1 hit.
PfamiPF04906. Tweety. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BSA4-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MQAARVDYIA PWWVVWLHSV PHVGLRLQPV NSTFSPGDES YQESLLFLGL
60 70 80 90 100
VAAVCLGLNL IFLVAYLVCA CHCRRDDAVQ TKQHHSCCIT WTAVVAGLIC
110 120 130 140 150
CAAVGVGFYG NSETNDGAYQ LMYSLDDANH TFSGIDALVS GTTQKMKVDL
160 170 180 190 200
EQHLARLSEI FAARGDYLQT LKFIQQMAGS VVVQLSGLPV WREVTMELTK
210 220 230 240 250
LSDQTGYVEY YRWLSYLLLF ILDLVICLIA CLGLAKRSKC LLASMLCCGA
260 270 280 290 300
LSLLLSWASL AADGSAAVAT SDFCVAPDTF ILNVTEGQIS TEVTRYYLYC
310 320 330 340 350
SQSGSSPFQQ TLTTFQRALT TMQIQVAGLL QFAVPLFSTA EEDLLAIQLL
360 370 380 390 400
LNSSESSLHQ LTAMVDCRGL HKDYLDALAG ICYDGLQGLL YLGLFSFLAA
410 420 430 440 450
LAFSTMICAG PRAWKHFTTR NRDYDDIDDD DPFNPQAWRM AAHSPPRGQL
460 470 480 490 500
HSFCSYSSGL GSQTSLQPPA QTISNAPVSE YMNQAMLFGR NPRYENVPLI
510 520 530
GRASPPPTYS PSMRATYLSV ADEHLRHYGN QFPA
Length:534
Mass (Da):58,772
Last modified:May 18, 2010 - v3
Checksum:iCD59065DD53B309C
GO
Isoform 2 (identifier: Q9BSA4-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:213
Mass (Da):23,562
Checksum:i433E2A4DFD0DA7DC
GO

Sequence cautioni

The sequence AAH05168.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC03579.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti4 – 41A → S in AAL16784 (PubMed:11597145).Curated
Sequence conflicti181 – 1811V → I in AAL16784 (PubMed:11597145).Curated
Sequence conflicti181 – 1811V → I in BAC03579 (PubMed:14702039).Curated
Sequence conflicti388 – 3881G → V in BAG54409 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111P → H.
Corresponds to variant rs11538875 [ dbSNP | Ensembl ].
VAR_037460
Natural varianti85 – 851H → D.
Corresponds to variant rs11538876 [ dbSNP | Ensembl ].
VAR_037461
Natural varianti262 – 2621A → T.1 Publication
Corresponds to variant rs35682745 [ dbSNP | Ensembl ].
VAR_037462
Natural varianti265 – 2651S → A.2 Publications
Corresponds to variant rs35999669 [ dbSNP | Ensembl ].
VAR_037463
Natural varianti409 – 4091A → E.
Corresponds to variant rs9892705 [ dbSNP | Ensembl ].
VAR_057791
Natural varianti419 – 4191T → I.
Corresponds to variant rs12600564 [ dbSNP | Ensembl ].
VAR_037464
Natural varianti423 – 4231D → E.2 Publications
Corresponds to variant rs9899862 [ dbSNP | Ensembl ].
VAR_037465

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 321321Missing in isoform 2. 1 PublicationVSP_040567Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS32717.1. [Q9BSA4-1]
CCDS45770.1. [Q9BSA4-2]
RefSeqiNP_116035.5. NM_032646.5. [Q9BSA4-1]
NP_443101.1. NM_052869.1. [Q9BSA4-2]
UniGeneiHs.27935.

Genome annotation databases

EnsembliENST00000269346; ENSP00000269346; ENSG00000141540. [Q9BSA4-1]
ENST00000441391; ENSP00000394576; ENSG00000141540. [Q9BSA4-2]
GeneIDi94015.
KEGGihsa:94015.
UCSCiuc002jkc.4. human. [Q9BSA4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS32717.1. [Q9BSA4-1]
CCDS45770.1. [Q9BSA4-2]
RefSeqiNP_116035.5. NM_032646.5. [Q9BSA4-1]
NP_443101.1. NM_052869.1. [Q9BSA4-2]
UniGeneiHs.27935.

3D structure databases

ProteinModelPortaliQ9BSA4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125087. 5 interactions.
IntActiQ9BSA4. 3 interactions.
MINTiMINT-2814893.
STRINGi9606.ENSP00000269346.

Protein family/group databases

TCDBi1.A.48.1.3. the anion channel tweety (tweety) family.

PTM databases

iPTMnetiQ9BSA4.
PhosphoSiteiQ9BSA4.

Polymorphism and mutation databases

BioMutaiTTYH2.
DMDMi296453009.

Proteomic databases

EPDiQ9BSA4.
PaxDbiQ9BSA4.
PeptideAtlasiQ9BSA4.
PRIDEiQ9BSA4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269346; ENSP00000269346; ENSG00000141540. [Q9BSA4-1]
ENST00000441391; ENSP00000394576; ENSG00000141540. [Q9BSA4-2]
GeneIDi94015.
KEGGihsa:94015.
UCSCiuc002jkc.4. human. [Q9BSA4-1]

Organism-specific databases

CTDi94015.
GeneCardsiTTYH2.
HGNCiHGNC:13877. TTYH2.
MIMi608855. gene.
neXtProtiNX_Q9BSA4.
PharmGKBiPA37823.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4433. Eukaryota.
ENOG410ZNTN. LUCA.
GeneTreeiENSGT00390000010182.
HOVERGENiHBG102014.
InParanoidiQ9BSA4.
OMAiRSKCLLA.
PhylomeDBiQ9BSA4.
TreeFamiTF319025.

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSiTTYH2. human.
GenomeRNAii94015.
PROiQ9BSA4.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BSA4.
CleanExiHS_TTYH2.
ExpressionAtlasiQ9BSA4. baseline and differential.
GenevisibleiQ9BSA4. HS.

Family and domain databases

InterProiIPR006990. Tweety.
[Graphical view]
PANTHERiPTHR12424. PTHR12424. 1 hit.
PfamiPF04906. Tweety. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. 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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    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.

Entry informationi

Entry nameiTTYH2_HUMAN
AccessioniPrimary (citable) accession number: Q9BSA4
Secondary accession number(s): B3KX97
, Q3B7H8, Q3B7R9, Q6AWB4, Q8NBB7, Q96PK1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: May 18, 2010
Last modified: July 6, 2016
This is version 110 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.