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TTYH2 tweety family member 2 [ Homo sapiens (human) ]

Gene ID: 94015, updated on 13-Mar-2020

Summary

Official Symbol
TTYH2provided by HGNC
Official Full Name
tweety family member 2provided by HGNC
Primary source
HGNC:HGNC:13877
See related
Ensembl:ENSG00000141540 MIM:608855
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
Also known as
C17orf29
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, 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]
Expression
Biased expression in brain (RPKM 43.8), testis (RPKM 8.8) and 11 other tissues See more
Orthologs

Genomic context

See TTYH2 in Genome Data Viewer
Location:
17q25.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (74213571..74262020)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72209696..72258159)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2074 Neighboring gene uncharacterized protein MGC16275 Neighboring gene ribosomal protein L38 Neighboring gene dynein axonemal intermediate chain 2 Neighboring gene uncharacterized LOC105371891 Neighboring gene uncharacterized LOC107985078 Neighboring gene kinesin family member 19

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4837, MGC126172

Gene Ontology Provided by GOA

Function Evidence Code Pubs
intracellular calcium activated chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
volume-sensitive chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein tweety homolog 2
Names
hTTY2
tweety homolog 2

NCBI Reference Sequences (RefSeq)

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_001330453.2NP_001317382.1  protein tweety homolog 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK296511, BC004233, BM548398
    Consensus CDS
    CCDS82195.1
    UniProtKB/TrEMBL
    B4DKD1
    Related
    ENSP00000433089.1, ENST00000529107.5
  2. NM_032646.6NP_116035.5  protein tweety homolog 2 isoform 1

    See identical proteins and their annotated locations for NP_116035.5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (1).
    Source sequence(s)
    AF319952, AK058197, AK126955, AL831858, BC004233, BC005168, BF529231
    Consensus CDS
    CCDS32717.1
    UniProtKB/Swiss-Prot
    Q9BSA4
    UniProtKB/TrEMBL
    Q8N3U8
    Related
    ENSP00000269346.4, ENST00000269346.9
    Conserved Domains (1) summary
    cd07912
    Location:7422
    Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
  3. NM_052869.1NP_443101.1  protein tweety homolog 2 isoform 2

    See identical proteins and their annotated locations for NP_443101.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (2) contains a shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AF319952, AK091085, AK126955, BC004233, BC005168, BX647912
    Consensus CDS
    CCDS45770.1
    UniProtKB/Swiss-Prot
    Q9BSA4
    Related
    ENSP00000394576.2, ENST00000441391.6
    Conserved Domains (1) summary
    cl12141
    Location:1112
    Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    74213571..74262020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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