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

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; AllianceGenome:HGNC:13877
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: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (74213571..74262020)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (75104409..75152817)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (72209710..72258159)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cryo-EM structures of the TTYH family reveal a novel architecture for lipid interactions.
Title: Cryo-EM structures of the TTYH family reveal a novel architecture for lipid interactions.
SARS-CoV-2 exacerbates proinflammatory responses in myeloid cells through C-type lectin receptors and Tweety family member 2.
Title: SARS-CoV-2 exacerbates proinflammatory responses in myeloid cells through C-type lectin receptors and Tweety family member 2.
TTYH2 may serve as a novel target for the treatment of osteosarcoma.
Title: Upregulated TTYH2 expression is critical for the invasion and migration of U2OS human osteosarcoma cell lines.
data suggested that beta-COP plays a critical role in the trafficking of the TTYH2 channel to the plasma membrane
Title: Surface expression of TTYH2 is attenuated by direct interaction with β-COP.
Nedd4-2 differentially interacts with and regulates TTYH1-3
Title: The ubiquitin-protein ligase Nedd4-2 differentially interacts with and regulates members of the Tweety family of chloride ion channels.
N-glycosylation is not the determining factor for TTYH2 trafficking to the plasma membrane.
Title: N-glycosylation analysis of the human Tweety family of putative chloride ion channels supports a penta-spanning membrane arrangement: impact of N-glycosylation on cellular processing of Tweety homologue 2 (TTYH2).
TTYH2 gene expression is significantly up-regulated in colon cancer. The TTYH2 gene may play an important role in regulating both proliferating and metastatic potentials of colorectal cancer.
Title: TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is up-regulated in colon carcinoma and involved in cell proliferation and cell aggregation.
expressed most highly in brain and testis and at lower levels in heart, ovary, spleen, and peripheral blood leukocytes. Expression of this gene is upregulated in 13 of 16 (81%) renal cell carcinoma samples examined
Title: TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinoma.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH94317 (e-PCR)
- UniSTS:89898

SHGC-149778 (e-PCR)
- UniSTS:177214

D17S1602 (e-PCR), detects polymorphism
- UniSTS:15239

SHGC-154305 (e-PCR)
- UniSTS:178066

D17S597 (e-PCR), detects polymorphism
- UniSTS:29343

D17S929 (e-PCR), detects polymorphism
- UniSTS:48036

G30991 (e-PCR)
- UniSTS:3305

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
NOT enables chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables intracellularly calcium-gated chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables volume-sensitive anion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables volume-sensitive chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in L-glutamate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein tweety homolog 2

Names: hTTY2; tweety homolog 2; volume-regulated anion channel subunit TTYH2

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)

NM_001330453.2 → NP_001317382.1 protein tweety homolog 2 isoform 3

Status: REVIEWED

Source sequence(s)

AK296511, BC004233, BM548398

Consensus CDS

CCDS82195.1

UniProtKB/TrEMBL

B2RCL0, B4DKD1

Related

ENSP00000433089.1, ENST00000529107.5
NM_032646.6 → NP_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

B3KX97, Q3B7H8, Q3B7R9, Q6AWB4, Q8NBB7, Q96PK1, Q9BSA4

UniProtKB/TrEMBL

B2RCL0

Related

ENSP00000269346.4, ENST00000269346.9

Conserved Domains (1) summary

cd07912
Location:7 → 422

Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels
NM_052869.1 → NP_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:1 → 112

Tweety_N; N-terminal domain of the protein encoded by the Drosophila tweety gene and related proteins, a family of chloride ion channels