Tmc8 MGI Mouse Gene Detail - MGI:2669037 - transmembrane channel-like gene family 8

Symbol

Tmc8
Name

transmembrane channel-like gene family 8
Synonyms

Ever2, EVIN2

Feature Type

protein coding gene
IDs

MGI:2669037
NCBI Gene: 217356
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr11:117672902-117683936 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 82.96 cM

SNPs within 2kb

417 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2669037	protein coding gene	Chr11:117672396-117683963 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019450	protein coding gene	Chr11:122063019-122074108 (+)
A/J	MGP_AJ_G0019418	protein coding gene	Chr11:116652314-116663390 (+)
AKR/J	MGP_AKRJ_G0019388	protein coding gene	Chr11:120201443-120214163 (+)
BALB/cJ	MGP_BALBcJ_G0019393	protein coding gene	Chr11:117024462-117036040 (+)
C3H/HeJ	MGP_C3HHeJ_G0019199	protein coding gene	Chr11:120480556-120491621 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019842	protein coding gene	Chr11:125783793-125796425 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017467	protein coding gene	Chr11:113660580-113672408 (+)
CAST/EiJ	MGP_CASTEiJ_G0018753	protein coding gene	Chr11:121914914-121926053 (+)
CBA/J	MGP_CBAJ_G0019170	protein coding gene	Chr11:130742075-130755556 (+)
DBA/2J	MGP_DBA2J_G0019282	protein coding gene	Chr11:116052784-116064716 (+)
FVB/NJ	MGP_FVBNJ_G0019274	protein coding gene	Chr11:115673355-115685189 (+)
LP/J	MGP_LPJ_G0019352	protein coding gene	Chr11:122385909-122397753 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019307	protein coding gene	Chr11:129704908-129715933 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019881	protein coding gene	Chr11:120850009-120861152 (+)
PWK/PhJ	MGP_PWKPhJ_G0018519	protein coding gene	Chr11:117409997-117421196 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018311	protein coding gene	Chr11:120581971-120593924 (+)
WSB/EiJ	MGP_WSBEiJ_G0018805	protein coding gene	Chr11:120819820-120831631 (+)

Human Ortholog

TMC8, transmembrane channel like 8

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TMC8, transmembrane channel like 8
Synonyms

EV2, EVER2, EVIN2
Links

HGNC:20474

NCBI Gene ID: 147138

neXtProt AC: NX_Q8IU68

UniProt: Q8IU68
Chr Location

17q25.3; chr17:78130770-78142968 (+) GRCh38

MGI Vertebrate Homology

Tmc8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TMC8
Gene Tree

Tmc8

Diseases

1 with human TMC8 associations

				Human Disease	Mouse Models
				epidermodysplasia verruciformis IDs epidermodysplasia verruciformis DOID:13777 MESH:D004819 NCI:C126877 OMIM:PS226400 ORDO:302 UMLS_CUI:C0014522

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Endonuclease-mediated

1
Gene trapped

2
Targeted

7
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

26 strains or lines available

Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no major defects in T cell subset numbers or function.

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All GO Annotations

23
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

15

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

63
RefSeq

17
UniProt

5
CCDS

CCDS25689.1, CCDS56824.1, CCDS56825.1

Ensembl

ENSMUSG00000050106 (Evidence)
NCBI Gene

217356

			Length	Strain/Species	Flank
genomic	ENSMUSG00000050106	Ensembl Gene Model \| MGI Sequence Detail	11035	C57BL/6J	± kb
transcript	ENSMUST00000106334	Ensembl \| MGI Sequence Detail	2644	Not Applicable
polypeptide	ENSMUSP00000101941	Ensembl \| MGI Sequence Detail	723	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000016399 transmembrane channel-like protein 8

(term hierarchy)
InterPro Domains

IPR012496 TMC domain

IPR038900 Transmembrane channel-like protein
GlyGen

Q7TN58 3 sites

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All nucleic 17

Genomic 2

cDNA 15

Microarray probesets 2

Summaries

All 36

Gene Ontology 7

Phenotypes 12
Earliest

J:84240 Keresztes G, et al., TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins. BMC Genomics. 2003 Jun 17;4(1):24
Latest

J:354201 Torres AD, et al., Deficiency in Ever2 does not increase susceptibility of mice to pathogenesis by the mouse papillomavirus, MmuPV1. J Virol. 2024 Jul 23;98(7):e0017424

TSS for Tmc8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr106069	Chr11:117672938-117672956 (+)	45 bp
Tssr106070	Chr11:117673107-117673163 (+)	233 bp
Tssr106071	Chr11:117673184-117673207 (+)	294 bp
Tssr106072	Chr11:117681528-117681529 (+)	8,627 bp
Tssr106073	Chr11:117681715-117681753 (+)	8,832 bp
Tssr106074	Chr11:117683281-117683292 (+)	10,385 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24