TTYH2
Protein tweety homolog 2
Also known as: C17orf29, TTYH2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BSA4
- Gene
- TTYH2
- Ensembl
- ENSG00000141540
- Chromosome
- 17
- Canonical length
- 534 aa
- Protein class
- Predicted membrane proteins, Transporters
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
534 residues, UniProt reviewed canonical sequence.
>Q9BSA4|TTYH2
1 MQAARVDYIA PWWVVWLHSV PHVGLRLQPV NSTFSPGDES YQESLLFLGL VAAVCLGLNL
61 IFLVAYLVCA CHCRRDDAVQ TKQHHSCCIT WTAVVAGLIC CAAVGVGFYG NSETNDGAYQ
121 LMYSLDDANH TFSGIDALVS GTTQKMKVDL EQHLARLSEI FAARGDYLQT LKFIQQMAGS
181 VVVQLSGLPV WREVTMELTK LSDQTGYVEY YRWLSYLLLF ILDLVICLIA CLGLAKRSKC
241 LLASMLCCGA LSLLLSWASL AADGSAAVAT SDFCVAPDTF ILNVTEGQIS TEVTRYYLYC
301 SQSGSSPFQQ TLTTFQRALT TMQIQVAGLL QFAVPLFSTA EEDLLAIQLL LNSSESSLHQ
361 LTAMVDCRGL HKDYLDALAG ICYDGLQGLL YLGLFSFLAA LAFSTMICAG PRAWKHFTTR
421 NRDYDDIDDD DPFNPQAWRM AAHSPPRGQL HSFCSYSSGL GSQTSLQPPA QTISNAPVSE
481 YMNQAMLFGR NPRYENVPLI GRASPPPTYS PSMRATYLSV ADEHLRHYGN QFPALocalizationUniProt · AlphaFold · HPA
Whether an antibody against TTYH2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 5
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 113 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 113 nTPM
- cerebral cortex: 71 nTPM
- midbrain: 71 nTPM
- hippocampal formation: 70 nTPM
- basal ganglia: 54 nTPM
- amygdala: 45 nTPM
Single-cell type
- oligodendrocytes: 302 nCPM
- cdc: 123 nCPM
- retinal bipolar cells: 111 nCPM
- astrocytes: 76 nCPM
- retinal pigment epithelial cells: 55 nCPM
- sertoli cells: 51 nCPM
Immune cell
- non-classical monocyte: 29 nTPM
- intermediate monocyte: 22 nTPM
- plasmacytoid DC: 18 nTPM
- myeloid DC: 15 nTPM
- classical monocyte: 13 nTPM
- total PBMC: 7 nTPM
Brain region
- white matter: 384 nTPM
- basal ganglia: 222 nTPM
- medulla oblongata: 220 nTPM
- midbrain: 190 nTPM
- cerebral cortex: 185 nTPM
- thalamus: 185 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.65
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.36
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- calcium ion binding
- intracellularly calcium-gated chloride channel activity
- volume-sensitive chloride channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TTYH2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TTYH2 as an antibody target. Whether an autoantibody or antibody against TTYH2 could matter depends on whether native TTYH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TTYH2 is annotated at the cell surface, where native TTYH2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label TTYH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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