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Protein

Transmembrane and TPR repeat-containing protein 2

Gene

TMTC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

  • calcium ion homeostasis Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000179104-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane and TPR repeat-containing protein 2
Gene namesi
Name:TMTC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:25440. TMTC2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei85 – 105HelicalSequence analysisAdd BLAST21
Transmembranei108 – 128HelicalSequence analysisAdd BLAST21
Transmembranei133 – 153HelicalSequence analysisAdd BLAST21
Transmembranei163 – 183HelicalSequence analysisAdd BLAST21
Transmembranei184 – 204HelicalSequence analysisAdd BLAST21
Transmembranei222 – 241HelicalSequence analysisAdd BLAST20
Transmembranei313 – 333HelicalSequence analysisAdd BLAST21
Transmembranei400 – 420HelicalSequence analysisAdd BLAST21
Transmembranei423 – 443HelicalSequence analysisAdd BLAST21
Transmembranei450 – 470HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi160335.
OpenTargetsiENSG00000179104.
PharmGKBiPA142670719.

Polymorphism and mutation databases

BioMutaiTMTC2.
DMDMi74759843.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002802901 – 836Transmembrane and TPR repeat-containing protein 2Add BLAST836

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi221N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8N394.
PaxDbiQ8N394.
PeptideAtlasiQ8N394.
PRIDEiQ8N394.

PTM databases

iPTMnetiQ8N394.
PhosphoSitePlusiQ8N394.

Expressioni

Gene expression databases

BgeeiENSG00000179104.
CleanExiHS_TMTC2.
ExpressionAtlasiQ8N394. baseline and differential.
GenevisibleiQ8N394. HS.

Organism-specific databases

HPAiHPA026954.
HPA026955.

Interactioni

Protein-protein interaction databases

BioGridi127753. 3 interactors.
IntActiQ8N394. 2 interactors.
MINTiMINT-2810228.
STRINGi9606.ENSP00000322300.

Structurei

3D structure databases

ProteinModelPortaliQ8N394.
SMRiQ8N394.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati462 – 492TPR 1Add BLAST31
Repeati493 – 526TPR 2Add BLAST34
Repeati527 – 560TPR 3Add BLAST34
Repeati562 – 594TPR 4Add BLAST33
Repeati606 – 639TPR 5Add BLAST34
Repeati643 – 676TPR 6Add BLAST34
Repeati677 – 710TPR 7Add BLAST34
Repeati712 – 744TPR 8Add BLAST33
Repeati746 – 778TPR 9Add BLAST33
Repeati779 – 812TPR 10Add BLAST34

Sequence similaritiesi

Belongs to the TMTC family.Curated
Contains 10 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IQRH. Eukaryota.
ENOG410XP5Q. LUCA.
GeneTreeiENSGT00550000074327.
HOGENOMiHOG000010230.
HOVERGENiHBG054555.
InParanoidiQ8N394.
OMAiWYVESLR.
OrthoDBiEOG091G0D59.
PhylomeDBiQ8N394.
TreeFamiTF328339.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR013618. DUF1736.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF08409. DUF1736. 1 hit.
PF00515. TPR_1. 1 hit.
PF13181. TPR_8. 3 hits.
[Graphical view]
SMARTiSM00028. TPR. 8 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 2 hits.
PROSITEiPS50005. TPR. 9 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8N394-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MIAELVSSAL GLALYLNTLS ADFCYDDSRA IKTNQDLLPE TPWTHIFYND
60 70 80 90 100
FWGTLLTHSG SHKSYRPLCT LSFRLNHAIG GLNPWSYHLV NVLLHAAVTG
110 120 130 140 150
LFTSFSKILL GDGYWTFMAG LMFASHPIHT EAVAGIVGRA DVGASLFFLL
160 170 180 190 200
SLLCYIKHCS TRGYSARTWG WFLGSGLCAG CSMLWKEQGV TVLAVSAVYD
210 220 230 240 250
VFVFHRLKIK QILPTIYKRK NLSLFLSISL LIFWGSSLLG ARLYWMGNKP
260 270 280 290 300
PSFSNSDNPA ADSDSLLTRT LTFFYLPTKN LWLLLCPDTL SFDWSMDAVP
310 320 330 340 350
LLKTVCDWRN LHTVAFYTGL LLLAYYGLKS PSVDRECNGK TVTNGKQNAN
360 370 380 390 400
GHSCLSDVEY QNSETKSSFA SKVENGIKND VSQRTQLPST ENIVVLSLSL
410 420 430 440 450
LIIPFVPATN LFFYVGFVIA ERVLYIPSMG FCLLITVGAR ALYVKVQKRF
460 470 480 490 500
LKSLIFYATA TLIVFYGLKT AIRNGDWQNE EMLYRSGIKV NPAKAWGNLG
510 520 530 540 550
NVLKSQSKIS EAESAYRNAL YYRSNMADML YNLGLLLQEN SRFAEALHYY
560 570 580 590 600
KLAIGSRPTL ASAYLNTGII LMNQGRTEEA RRTFLKCSEI PDENLKDPHA
610 620 630 640 650
HKSSVTSCLY NLGKLYHEQG HYEEALSVYK EAIQKMPRQF APQSLYNMMG
660 670 680 690 700
EAYMRLSKLP EAEHWYMESL RSKTDHIPAH LTYGKLLALT GRKSEAEKLF
710 720 730 740 750
LKAIELDPTK GNCYMHYGQF LLEEARLIEA AEMAKKAAEL DSTEFDVVFN
760 770 780 790 800
AAHMLRQASL NEAAEKYYDL AARLRPNYPA ALMNLGAILH LNGRLQKAEA
810 820 830
NYLRALQLKP DDVITQSNLR KLWNIMEKQG LKTSKT
Length:836
Mass (Da):94,130
Last modified:October 1, 2002 - v1
Checksum:iC61517F1B39B3A28
GO

Sequence cautioni

The sequence BAC11102 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031113315A → T.Corresponds to variant rs1201791dbSNPEnsembl.1
Natural variantiVAR_031114443Y → S.Corresponds to variant rs17010106dbSNPEnsembl.1
Natural variantiVAR_053852741D → Y.Corresponds to variant rs428398dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074634 mRNA. Translation: BAC11102.1. Different initiation.
AK315285 mRNA. Translation: BAG37694.1.
AL834509 mRNA. Translation: CAD39165.1.
CH471054 Genomic DNA. Translation: EAW97384.1.
BC093852 mRNA. Translation: AAH93852.1.
BC093854 mRNA. Translation: AAH93854.1.
CCDSiCCDS9025.1.
RefSeqiNP_001307250.1. NM_001320321.1.
NP_689801.1. NM_152588.2.
UniGeneiHs.577775.

Genome annotation databases

EnsembliENST00000321196; ENSP00000322300; ENSG00000179104.
GeneIDi160335.
KEGGihsa:160335.
UCSCiuc001szt.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074634 mRNA. Translation: BAC11102.1. Different initiation.
AK315285 mRNA. Translation: BAG37694.1.
AL834509 mRNA. Translation: CAD39165.1.
CH471054 Genomic DNA. Translation: EAW97384.1.
BC093852 mRNA. Translation: AAH93852.1.
BC093854 mRNA. Translation: AAH93854.1.
CCDSiCCDS9025.1.
RefSeqiNP_001307250.1. NM_001320321.1.
NP_689801.1. NM_152588.2.
UniGeneiHs.577775.

3D structure databases

ProteinModelPortaliQ8N394.
SMRiQ8N394.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127753. 3 interactors.
IntActiQ8N394. 2 interactors.
MINTiMINT-2810228.
STRINGi9606.ENSP00000322300.

PTM databases

iPTMnetiQ8N394.
PhosphoSitePlusiQ8N394.

Polymorphism and mutation databases

BioMutaiTMTC2.
DMDMi74759843.

Proteomic databases

MaxQBiQ8N394.
PaxDbiQ8N394.
PeptideAtlasiQ8N394.
PRIDEiQ8N394.

Protocols and materials databases

DNASUi160335.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321196; ENSP00000322300; ENSG00000179104.
GeneIDi160335.
KEGGihsa:160335.
UCSCiuc001szt.5. human.

Organism-specific databases

CTDi160335.
DisGeNETi160335.
GeneCardsiTMTC2.
HGNCiHGNC:25440. TMTC2.
HPAiHPA026954.
HPA026955.
MIMi615856. gene.
neXtProtiNX_Q8N394.
OpenTargetsiENSG00000179104.
PharmGKBiPA142670719.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQRH. Eukaryota.
ENOG410XP5Q. LUCA.
GeneTreeiENSGT00550000074327.
HOGENOMiHOG000010230.
HOVERGENiHBG054555.
InParanoidiQ8N394.
OMAiWYVESLR.
OrthoDBiEOG091G0D59.
PhylomeDBiQ8N394.
TreeFamiTF328339.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000179104-MONOMER.

Miscellaneous databases

ChiTaRSiTMTC2. human.
GeneWikiiTMTC2.
GenomeRNAii160335.
PROiQ8N394.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179104.
CleanExiHS_TMTC2.
ExpressionAtlasiQ8N394. baseline and differential.
GenevisibleiQ8N394. HS.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR013618. DUF1736.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF08409. DUF1736. 1 hit.
PF00515. TPR_1. 1 hit.
PF13181. TPR_8. 3 hits.
[Graphical view]
SMARTiSM00028. TPR. 8 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 2 hits.
PROSITEiPS50005. TPR. 9 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTMTC2_HUMAN
AccessioniPrimary (citable) accession number: Q8N394
Secondary accession number(s): B2RCU7, Q8N2K8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 118 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 12
    Human chromosome 12: 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.