Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Transmembrane and TPR repeat-containing protein 2

Gene

TMTC2

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

Functioni

GO - Biological processi

  • calcium ion homeostasis Source: UniProtKB

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

EuPathDBiHostDB:ENSG00000179104.8
HGNCiHGNC:25440 TMTC2
MIMi615856 gene
neXtProtiNX_Q8N394

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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...) asparagineSequence 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, 4 interactors
IntActiQ8N394, 2 interactors
MINTiQ8N394

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

Keywords - Domaini

Repeat, TPR repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IQRH Eukaryota
ENOG410XP5Q LUCA
GeneTreeiENSGT00550000074327
HOGENOMiHOG000010230
HOVERGENiHBG054555
InParanoidiQ8N394
OMAiIRYRPNM
OrthoDBiEOG091G0D59
PhylomeDBiQ8N394
TreeFamiTF328339

Family and domain databases

Gene3Di1.25.40.10, 4 hits
InterProiView protein in InterPro
IPR013618 DUF1736
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR001440 TPR_1
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF08409 DUF1736, 1 hit
PF00515 TPR_1, 1 hit
PF13181 TPR_8, 3 hits
SMARTiView protein in SMART
SM00028 TPR, 8 hits
SUPFAMiSSF48452 SSF48452, 2 hits
PROSITEiView protein in PROSITE
PS50005 TPR, 9 hits
PS50293 TPR_REGION, 1 hit

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 dbSNP:rs1201791Ensembl.1
Natural variantiVAR_031114443Y → S. Corresponds to variant dbSNP:rs17010106Ensembl.1
Natural variantiVAR_053852741D → Y. Corresponds to variant dbSNP:rs428398Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiTMTC2_HUMAN
AccessioniPrimary (citable) accession number: Q8N394
Secondary accession number(s): B2RCU7, Q8N2K8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 1, 2002
Last modified: March 28, 2018
This is version 129 of the entry and version 1 of the sequence. See 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

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how uniprot.org is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health