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Protein

Transmembrane channel-like protein 8

Gene

TMC8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable ion channel.By similarity

GO - Molecular functioni

  • receptor binding Source: UniProtKB

GO - Biological processi

  • ion transport Source: UniProtKB-KW
  • negative regulation of protein binding Source: UniProtKB
  • negative regulation of protein oligomerization Source: UniProtKB
  • regulation of cell growth Source: UniProtKB
  • regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: UniProtKB
  • zinc ion homeostasis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Protein family/group databases

TCDBi1.A.17.4.11. the calcium-dependent chloride channel (ca-clc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane channel-like protein 8
Alternative name(s):
Epidermodysplasia verruciformis protein 2
Gene namesi
Name:TMC8
Synonyms:EVER2, EVIN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:20474. TMC8.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 114CytoplasmicSequence analysisAdd BLAST114
Transmembranei115 – 135HelicalSequence analysisAdd BLAST21
Topological domaini136 – 200LumenalSequence analysisAdd BLAST65
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Topological domaini222 – 299CytoplasmicSequence analysisAdd BLAST78
Transmembranei300 – 320HelicalSequence analysisAdd BLAST21
Topological domaini321 – 338LumenalSequence analysisAdd BLAST18
Transmembranei339 – 359HelicalSequence analysisAdd BLAST21
Topological domaini360 – 426CytoplasmicSequence analysisAdd BLAST67
Transmembranei427 – 447HelicalSequence analysisAdd BLAST21
Topological domaini448 – 488LumenalSequence analysisAdd BLAST41
Transmembranei489 – 509HelicalSequence analysisAdd BLAST21
Topological domaini510 – 531CytoplasmicSequence analysisAdd BLAST22
Transmembranei532 – 552HelicalSequence analysisAdd BLAST21
Topological domaini553 – 594LumenalSequence analysisAdd BLAST42
Transmembranei595 – 615HelicalSequence analysisAdd BLAST21
Topological domaini616 – 726CytoplasmicSequence analysisAdd BLAST111

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • nuclear membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Epidermodysplasia verruciformis (EV)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions.
See also OMIM:226400

Organism-specific databases

DisGeNETi147138.
MalaCardsiTMC8.
MIMi226400. phenotype.
OpenTargetsiENSG00000167895.
Orphaneti302. Epidermodysplasia verruciformis.
PharmGKBiPA134892288.

Polymorphism and mutation databases

BioMutaiTMC8.
DMDMi74714272.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001853861 – 726Transmembrane channel-like protein 8Add BLAST726

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei6PhosphoserineBy similarity1
Glycosylationi148N-linked (GlcNAc...)Sequence analysis1
Glycosylationi567N-linked (GlcNAc...)Sequence analysis1
Modified residuei658PhosphoserineCombined sources1
Modified residuei673PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ8IU68.
PeptideAtlasiQ8IU68.
PRIDEiQ8IU68.

PTM databases

iPTMnetiQ8IU68.
PhosphoSitePlusiQ8IU68.
SwissPalmiQ8IU68.

Expressioni

Tissue specificityi

Expressed in placenta, prostate and testis.1 Publication

Gene expression databases

BgeeiENSG00000167895.
CleanExiHS_TMC8.
ExpressionAtlasiQ8IU68. baseline and differential.
GenevisibleiQ8IU68. HS.

Organism-specific databases

HPAiHPA054429.

Interactioni

GO - Molecular functioni

  • receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi127037. 2 interactors.
STRINGi9606.ENSP00000325561.

Structurei

3D structure databases

ProteinModelPortaliQ8IU68.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMC family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IIXB. Eukaryota.
ENOG410Y7QP. LUCA.
GeneTreeiENSGT00760000119171.
HOGENOMiHOG000038033.
HOVERGENiHBG055908.
InParanoidiQ8IU68.
OMAiWCVVLKL.
OrthoDBiEOG091G04K4.
PhylomeDBiQ8IU68.
TreeFamiTF313462.

Family and domain databases

InterProiIPR012496. TMC.
[Graphical view]
PfamiPF07810. TMC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IU68-1) [UniParc]FASTAAdd to basket
Also known as: Large EVER2

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLLPRSVSSE RAPGVPEPEE LWEAEMERLR GSGTPVRGLP YAMMDKRLIW
60 70 80 90 100
QLREPAGVQT LRWQRWQRRR QTVERRLREA AQRLARGLGL WEGALYEIGG
110 120 130 140 150
LFGTGIRSYF TFLRFLLLLN LLSLLLTASF VLLPLVWLRP PDPGPTLNLT
160 170 180 190 200
LQCPGSRQSP PGVLRFHNQL WHVLTGRAFT NTYLFYGAYR VGPESSSVYS
210 220 230 240 250
IRLAYLLSPL ACLLLCFCGT LRRMVKGLPQ KTLLGQGYQA PLSAKVFSSW
260 270 280 290 300
DFCIRVQEAA TIKKHEISNE FKVELEEGRR FQLMQQQTRA QTACRLLSYL
310 320 330 340 350
RVNVLNGLLV VGAISAIFWA TKYSQDNKEE SLFLLLQYLP PGVIALVNFL
360 370 380 390 400
GPLLFTFLVQ LENYPPNTEV NLTLIWCVVL KLASLGMFSV SLGQTILCIG
410 420 430 440 450
RDKSSCESYG YNVCDYQCWE NSVGEELYKL SIFNFLLTVA FAFLVTLPRR
460 470 480 490 500
LLVDRFSGRF WAWLEREEFL VPKNVLDIVA GQTVTWMGLF YCPLLPLLNS
510 520 530 540 550
VFLFLTFYIK KYTLLKNSRA SSRPFRASSS TFFFQLVLLL GLLLAAVPLG
560 570 580 590 600
YVVSSIHSSW DCGLFTNYSA PWQVVPELVA LGLPPIGQRA LHYLGSHAFS
610 620 630 640 650
FPLLIMLSLV LTVCVSQTQA NARAIHRLRK QLVWQVQEKW HLVEDLSRLL
660 670 680 690 700
PEPGPSDSPG PKYPASQASR PQSFCPGCPC PGSPGHQAPR PGPSVVDAAG
710 720
LRSPCPGQHG APASARRFRF PSGAEL
Length:726
Mass (Da):81,641
Last modified:March 1, 2003 - v1
Checksum:iAA3F4A01A6C315EF
GO
Isoform 2 (identifier: Q8IU68-2) [UniParc]FASTAAdd to basket
Also known as: Small EVER2

The sequence of this isoform differs from the canonical sequence as follows:
     1-223: Missing.

Show »
Length:503
Mass (Da):56,132
Checksum:i9466295B76B989E7
GO

Sequence cautioni

The sequence BAC03459 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BC028076 differs from that shown. Unlikely isoform. Aberrant splice sites.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti5R → W in BAC03459 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023964306N → I.1 PublicationCorresponds to variant rs7208422dbSNPEnsembl.1
Natural variantiVAR_052337501V → I.Corresponds to variant rs11651675dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0164481 – 223Missing in isoform 2. 1 PublicationAdd BLAST223

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY057380 mRNA. Translation: AAL25837.1.
AY099358 mRNA. Translation: AAM44454.1.
AY099359 mRNA. Translation: AAM44455.1.
AY236500 mRNA. Translation: AAP69878.1.
AK090478 mRNA. Translation: BAC03459.1. Different initiation.
AC021593 Genomic DNA. No translation available.
BC028076 mRNA. No translation available.
BC110296 mRNA. Translation: AAI10297.1.
CCDSiCCDS32749.1. [Q8IU68-1]
RefSeqiNP_689681.2. NM_152468.4. [Q8IU68-1]
UniGeneiHs.592102.

Genome annotation databases

EnsembliENST00000318430; ENSP00000325561; ENSG00000167895. [Q8IU68-1]
ENST00000589691; ENSP00000467482; ENSG00000167895. [Q8IU68-2]
GeneIDi147138.
KEGGihsa:147138.
UCSCiuc002jup.3. human. [Q8IU68-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

TMC8base

TMC8 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY057380 mRNA. Translation: AAL25837.1.
AY099358 mRNA. Translation: AAM44454.1.
AY099359 mRNA. Translation: AAM44455.1.
AY236500 mRNA. Translation: AAP69878.1.
AK090478 mRNA. Translation: BAC03459.1. Different initiation.
AC021593 Genomic DNA. No translation available.
BC028076 mRNA. No translation available.
BC110296 mRNA. Translation: AAI10297.1.
CCDSiCCDS32749.1. [Q8IU68-1]
RefSeqiNP_689681.2. NM_152468.4. [Q8IU68-1]
UniGeneiHs.592102.

3D structure databases

ProteinModelPortaliQ8IU68.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127037. 2 interactors.
STRINGi9606.ENSP00000325561.

Protein family/group databases

TCDBi1.A.17.4.11. the calcium-dependent chloride channel (ca-clc) family.

PTM databases

iPTMnetiQ8IU68.
PhosphoSitePlusiQ8IU68.
SwissPalmiQ8IU68.

Polymorphism and mutation databases

BioMutaiTMC8.
DMDMi74714272.

Proteomic databases

PaxDbiQ8IU68.
PeptideAtlasiQ8IU68.
PRIDEiQ8IU68.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318430; ENSP00000325561; ENSG00000167895. [Q8IU68-1]
ENST00000589691; ENSP00000467482; ENSG00000167895. [Q8IU68-2]
GeneIDi147138.
KEGGihsa:147138.
UCSCiuc002jup.3. human. [Q8IU68-1]

Organism-specific databases

CTDi147138.
DisGeNETi147138.
GeneCardsiTMC8.
H-InvDBHIX0173689.
HGNCiHGNC:20474. TMC8.
HPAiHPA054429.
MalaCardsiTMC8.
MIMi226400. phenotype.
605829. gene.
neXtProtiNX_Q8IU68.
OpenTargetsiENSG00000167895.
Orphaneti302. Epidermodysplasia verruciformis.
PharmGKBiPA134892288.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIXB. Eukaryota.
ENOG410Y7QP. LUCA.
GeneTreeiENSGT00760000119171.
HOGENOMiHOG000038033.
HOVERGENiHBG055908.
InParanoidiQ8IU68.
OMAiWCVVLKL.
OrthoDBiEOG091G04K4.
PhylomeDBiQ8IU68.
TreeFamiTF313462.

Miscellaneous databases

ChiTaRSiTMC8. human.
GeneWikiiTMC8.
GenomeRNAii147138.
PROiQ8IU68.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167895.
CleanExiHS_TMC8.
ExpressionAtlasiQ8IU68. baseline and differential.
GenevisibleiQ8IU68. HS.

Family and domain databases

InterProiIPR012496. TMC.
[Graphical view]
PfamiPF07810. TMC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTMC8_HUMAN
AccessioniPrimary (citable) accession number: Q8IU68
Secondary accession number(s): Q2YDC0
, Q8IWU7, Q8N358, Q8NF04
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: March 1, 2003
Last modified: November 2, 2016
This is version 108 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.