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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

BioCyciZFISH:ENSG00000141540-MONOMER.
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)DescriptionActionsGraphical viewLength
Topological domaini1 – 44ExtracellularSequence analysisAdd BLAST44
Transmembranei45 – 65Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini66 – 87CytoplasmicSequence analysisAdd BLAST22
Transmembranei88 – 108Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini109 – 213ExtracellularSequence analysisAdd BLAST105
Transmembranei214 – 234Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini235 – 240CytoplasmicSequence analysis6
Transmembranei241 – 261Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini262 – 388ExtracellularSequence analysisAdd BLAST127
Transmembranei389 – 409Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini410 – 534CytoplasmicSequence analysisAdd BLAST125

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi94015.
OpenTargetsiENSG00000141540.
PharmGKBiPA37823.

Polymorphism and mutation databases

BioMutaiTTYH2.
DMDMi296453009.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003122461 – 534Protein tweety homolog 2Add BLAST534

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi31N-linked (GlcNAc...)Sequence analysis1
Modified residuei199PhosphothreonineCombined sources1
Glycosylationi283N-linked (GlcNAc...)Sequence analysis1
Modified residuei504PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9BSA4.
PaxDbiQ9BSA4.
PeptideAtlasiQ9BSA4.
PRIDEiQ9BSA4.

PTM databases

iPTMnetiQ9BSA4.
PhosphoSitePlusiQ9BSA4.

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

BgeeiENSG00000141540.
CleanExiHS_TTYH2.
ExpressionAtlasiQ9BSA4. baseline and differential.
GenevisibleiQ9BSA4. HS.

Interactioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ9BSA4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi423 – 431Poly-Asp9

Sequence similaritiesi

Belongs to the tweety family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4433. Eukaryota.
ENOG410ZNTN. LUCA.
GeneTreeiENSGT00390000010182.
HOVERGENiHBG102014.
InParanoidiQ9BSA4.
OMAiRSKCLLA.
OrthoDBiEOG091G05MR.
PhylomeDBiQ9BSA4.
TreeFamiTF319025.

Family and domain databases

CDDicd07912. Tweety_N. 1 hit.
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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC03579 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti4A → S in AAL16784 (PubMed:11597145).Curated1
Sequence conflicti181V → I in AAL16784 (PubMed:11597145).Curated1
Sequence conflicti181V → I in BAC03579 (PubMed:14702039).Curated1
Sequence conflicti388G → V in BAG54409 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03746011P → H.Corresponds to variant rs11538875dbSNPEnsembl.1
Natural variantiVAR_03746185H → D.Corresponds to variant rs11538876dbSNPEnsembl.1
Natural variantiVAR_037462262A → T.1 PublicationCorresponds to variant rs35682745dbSNPEnsembl.1
Natural variantiVAR_037463265S → A.2 PublicationsCorresponds to variant rs35999669dbSNPEnsembl.1
Natural variantiVAR_057791409A → E.Corresponds to variant rs9892705dbSNPEnsembl.1
Natural variantiVAR_037464419T → I.Corresponds to variant rs12600564dbSNPEnsembl.1
Natural variantiVAR_037465423D → E.2 PublicationsCorresponds to variant rs9899862dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0405671 – 321Missing in isoform 2. 1 PublicationAdd BLAST321

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 interactors.
IntActiQ9BSA4. 3 interactors.
MINTiMINT-2814893.
STRINGi9606.ENSP00000269346.

Protein family/group databases

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

PTM databases

iPTMnetiQ9BSA4.
PhosphoSitePlusiQ9BSA4.

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.
DisGeNETi94015.
GeneCardsiTTYH2.
HGNCiHGNC:13877. TTYH2.
MIMi608855. gene.
neXtProtiNX_Q9BSA4.
OpenTargetsiENSG00000141540.
PharmGKBiPA37823.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4433. Eukaryota.
ENOG410ZNTN. LUCA.
GeneTreeiENSGT00390000010182.
HOVERGENiHBG102014.
InParanoidiQ9BSA4.
OMAiRSKCLLA.
OrthoDBiEOG091G05MR.
PhylomeDBiQ9BSA4.
TreeFamiTF319025.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000141540-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

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

Gene expression databases

BgeeiENSG00000141540.
CleanExiHS_TTYH2.
ExpressionAtlasiQ9BSA4. baseline and differential.
GenevisibleiQ9BSA4. HS.

Family and domain databases

CDDicd07912. Tweety_N. 1 hit.
InterProiIPR006990. Tweety.
[Graphical view]
PANTHERiPTHR12424. PTHR12424. 1 hit.
PfamiPF04906. Tweety. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 113 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.