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TTYH3 tweety family member 3 [ Homo sapiens (human) ]

Gene ID: 80727, updated on 6-Nov-2022

Summary

Official Symbol
TTYH3provided by HGNC
Official Full Name
tweety family member 3provided by HGNC
Primary source
HGNC:HGNC:22222
See related
Ensembl:ENSG00000136295 MIM:608919; AllianceGenome:HGNC:22222
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 20.5), kidney (RPKM 16.0) and 24 other tissues See more
Orthologs
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Genomic context

See TTYH3 in Genome Data Viewer
Location:
7p22.3
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2631986..2664802)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2745500..2778329)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2671620..2704436)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene IQ motif containing E Neighboring gene uncharacterized LOC107986760 Neighboring gene Sharpr-MPRA regulatory region 835 Neighboring gene Sharpr-MPRA regulatory region 8408 Neighboring gene Sharpr-MPRA regulatory region 3776 Neighboring gene archaelysin family metallopeptidase 1 Neighboring gene G protein subunit alpha 12

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1691

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in chloride transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ion transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
protein tweety homolog 3
Names
hTTY3
tweety homolog 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_025250.3NP_079526.1  protein tweety homolog 3

    See identical proteins and their annotated locations for NP_079526.1

    Status: REVIEWED

    Source sequence(s)
    AB051478, AF318350, AK074158, AK124608, AL522452, BC041603, BC069027
    Consensus CDS
    CCDS34588.1
    UniProtKB/Swiss-Prot
    Q8TEG6, Q9C0H2
    UniProtKB/TrEMBL
    A0A024R816, Q8WYU9
    Related
    ENSP00000258796.7, ENST00000258796.12
    Conserved Domains (1) summary
    pfam04906
    Location:25431
    Tweety; Tweety

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    2631986..2664802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    2745500..2778329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)