Tmc8 transmembrane channel-like gene family 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tmc8provided by MGI
Official Full Name: transmembrane channel-like gene family 8provided by MGI
Primary source: MGI:MGI:2669037
See related: Ensembl:ENSMUSG00000050106 AllianceGenome:MGI:2669037
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: EVIN2; Ever2; mFLJ00400
Summary: Predicted to enable mechanosensitive monoatomic ion channel activity; protein sequestering activity; and tumor necrosis factor binding activity. Involved in protein stabilization. Predicted to be located in Golgi apparatus; endoplasmic reticulum; and nuclear membrane. Human ortholog(s) of this gene implicated in epidermodysplasia verruciformis. Orthologous to human TMC8 (transmembrane channel like 8). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in thymus adult (RPKM 68.4), spleen adult (RPKM 27.6) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 E2; 11 82.96 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (117672396..117683963)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (117781584..117793137)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deficiency in Ever2 does not increase susceptibility of mice to pathogenesis by the mouse papillomavirus, MmuPV1.
Title: Deficiency in Ever2 does not increase susceptibility of mice to pathogenesis by the mouse papillomavirus, MmuPV1.
Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components.
Title: Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables mechanosensitive monoatomic ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein sequestering activity	IEA Inferred from Electronic Annotation more info
enables protein sequestering activity	ISO Inferred from Sequence Orthology more info
enables tumor necrosis factor binding	IEA Inferred from Electronic Annotation more info
enables tumor necrosis factor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in intracellular zinc ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein binding	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein-containing complex assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA Inferred from Electronic Annotation more info
involved_in regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transmembrane channel-like protein 8

Names: epidermodysplasia verruciformis 2; epidermodysplasia verruciformis protein 2 homolog; transmembrane channel-like 8

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_001195088.1 → NP_001182017.1 transmembrane channel-like protein 8 isoform A

Status: VALIDATED

Description

Transcript Variant: This variant (A) represents the longest transcript and encodes the longest isoform (A).

Source sequence(s)

AL645856
NM_001195089.1 → NP_001182018.1 transmembrane channel-like protein 8 isoform B

See identical proteins and their annotated locations for NP_001182018.1

Status: VALIDATED

Description

Transcript Variant: This variant (B) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon and uses an alternate in-frame splice site in the 5' coding region, compared to variant A. The resulting protein (isoform B) has a distinct N-terminus and is shorter than isoform A.

Source sequence(s)

AL645856

Consensus CDS

CCDS56824.1

UniProtKB/TrEMBL

B0QZP6, Q571H8

Related

ENSMUSP00000101941.3, ENSMUST00000106334.9

Conserved Domains (1) summary

pfam07810
Location:423 → 533

TMC; TMC domain
NM_001195090.1 → NP_001182019.1 transmembrane channel-like protein 8 isoform D

See identical proteins and their annotated locations for NP_001182019.1

Status: VALIDATED

Description

Transcript Variant: This variant (D) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses three alternate in-frame splice sites in the 5' coding region, compared to variant A. The resulting protein (isoform D) has a distinct N-terminus and is shorter than isoform A.

Source sequence(s)

AL645856, AY236501

Consensus CDS

CCDS56825.1

UniProtKB/TrEMBL

B0QZP7, Q571H8

Related

ENSMUSP00000113570.2, ENSMUST00000117781.8

Conserved Domains (1) summary

pfam07810
Location:427 → 527

TMC; TMC domain
NM_181856.2 → NP_862904.1 transmembrane channel-like protein 8 isoform C

See identical proteins and their annotated locations for NP_862904.1

Status: VALIDATED

Description

Transcript Variant: This variant (C) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon and uses an alternate in-frame splice site in the 5' coding region, compared to variant A. The resulting protein (isoform C) has a distinct N-terminus and is shorter than isoform A.

Source sequence(s)

AL645856

Consensus CDS

CCDS25689.1

UniProtKB/Swiss-Prot

Q3TAL0, Q3UWI0, Q7TN58, Q7TQ67

UniProtKB/TrEMBL

B1ATC0, Q571H8

Related

ENSMUSP00000051878.8, ENSMUST00000050874.14

Conserved Domains (1) summary

pfam07810
Location:422 → 532

TMC; TMC domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

117672396..117683963

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006533123.5 → XP_006533186.1 transmembrane channel-like protein 8 isoform X1

See identical proteins and their annotated locations for XP_006533186.1

UniProtKB/TrEMBL

B0QZP6, Q571H8

Conserved Domains (1) summary

pfam07810
Location:423 → 533

TMC; TMC domain
XM_017314497.3 → XP_017169986.1 transmembrane channel-like protein 8 isoform X4

Conserved Domains (1) summary

pfam07810
Location:423 → 533

TMC; TMC domain
XM_017314496.2 → XP_017169985.1 transmembrane channel-like protein 8 isoform X3

UniProtKB/TrEMBL

Q571H8

Conserved Domains (1) summary

pfam07810
Location:423 → 533

TMC; TMC domain
XM_030245909.1 → XP_030101769.1 transmembrane channel-like protein 8 isoform X2

UniProtKB/Swiss-Prot

Q3TAL0, Q3UWI0, Q7TN58, Q7TQ67

UniProtKB/TrEMBL

B1ATC0, Q571H8

Conserved Domains (1) summary

pfam07810
Location:422 → 532

TMC; TMC domain