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Q8N394

- TMTC2_HUMAN

UniProt

Q8N394 - TMTC2_HUMAN

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Protein

Transmembrane and TPR repeat-containing protein 2

Gene

TMTC2

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

Functioni

GO - Biological processi

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

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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:25440. TMTC2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei85 – 10521HelicalSequence AnalysisAdd
BLAST
Transmembranei108 – 12821HelicalSequence AnalysisAdd
BLAST
Transmembranei133 – 15321HelicalSequence AnalysisAdd
BLAST
Transmembranei163 – 18321HelicalSequence AnalysisAdd
BLAST
Transmembranei184 – 20421HelicalSequence AnalysisAdd
BLAST
Transmembranei222 – 24120HelicalSequence AnalysisAdd
BLAST
Transmembranei313 – 33321HelicalSequence AnalysisAdd
BLAST
Transmembranei400 – 42021HelicalSequence AnalysisAdd
BLAST
Transmembranei423 – 44321HelicalSequence AnalysisAdd
BLAST
Transmembranei450 – 47021HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: LIFEdb
  2. endoplasmic reticulum membrane Source: UniProtKB
  3. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670719.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 836836Transmembrane and TPR repeat-containing protein 2PRO_0000280290Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi221 – 2211N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8N394.
PaxDbiQ8N394.
PRIDEiQ8N394.

PTM databases

PhosphoSiteiQ8N394.

Expressioni

Gene expression databases

BgeeiQ8N394.
CleanExiHS_TMTC2.
ExpressionAtlasiQ8N394. baseline and differential.
GenevestigatoriQ8N394.

Organism-specific databases

HPAiHPA026954.
HPA026955.

Interactioni

Protein-protein interaction databases

BioGridi127753. 2 interactions.
IntActiQ8N394. 2 interactions.
MINTiMINT-2810228.
STRINGi9606.ENSP00000322300.

Structurei

3D structure databases

ProteinModelPortaliQ8N394.
SMRiQ8N394. Positions 487-830.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati462 – 49231TPR 1Add
BLAST
Repeati493 – 52634TPR 2Add
BLAST
Repeati527 – 56034TPR 3Add
BLAST
Repeati562 – 59433TPR 4Add
BLAST
Repeati606 – 63934TPR 5Add
BLAST
Repeati643 – 67634TPR 6Add
BLAST
Repeati677 – 71034TPR 7Add
BLAST
Repeati712 – 74433TPR 8Add
BLAST
Repeati746 – 77833TPR 9Add
BLAST
Repeati779 – 81234TPR 10Add
BLAST

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

eggNOGiCOG0457.
GeneTreeiENSGT00550000074327.
HOGENOMiHOG000010230.
HOVERGENiHBG054555.
InParanoidiQ8N394.
OMAiTENIVIL.
OrthoDBiEOG7BKCT0.
PhylomeDBiQ8N394.
TreeFamiTF328339.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR013618. DUF1736.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF08409. DUF1736. 1 hit.
PF07719. TPR_2. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 8 hits.
[Graphical view]
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 BAC11102.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti315 – 3151A → T.
Corresponds to variant rs1201791 [ dbSNP | Ensembl ].
VAR_031113
Natural varianti443 – 4431Y → S.
Corresponds to variant rs17010106 [ dbSNP | Ensembl ].
VAR_031114
Natural varianti741 – 7411D → Y.
Corresponds to variant rs428398 [ dbSNP | Ensembl ].
VAR_053852

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_689801.1. NM_152588.1.
UniGeneiHs.577775.

Genome annotation databases

EnsembliENST00000321196; ENSP00000322300; ENSG00000179104.
GeneIDi160335.
KEGGihsa:160335.
UCSCiuc001szs.1. human.

Polymorphism databases

DMDMi74759843.

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 .
CCDSi CCDS9025.1.
RefSeqi NP_689801.1. NM_152588.1.
UniGenei Hs.577775.

3D structure databases

ProteinModelPortali Q8N394.
SMRi Q8N394. Positions 487-830.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127753. 2 interactions.
IntActi Q8N394. 2 interactions.
MINTi MINT-2810228.
STRINGi 9606.ENSP00000322300.

PTM databases

PhosphoSitei Q8N394.

Polymorphism databases

DMDMi 74759843.

Proteomic databases

MaxQBi Q8N394.
PaxDbi Q8N394.
PRIDEi Q8N394.

Protocols and materials databases

DNASUi 160335.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000321196 ; ENSP00000322300 ; ENSG00000179104 .
GeneIDi 160335.
KEGGi hsa:160335.
UCSCi uc001szs.1. human.

Organism-specific databases

CTDi 160335.
GeneCardsi GC12P083080.
HGNCi HGNC:25440. TMTC2.
HPAi HPA026954.
HPA026955.
neXtProti NX_Q8N394.
PharmGKBi PA142670719.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0457.
GeneTreei ENSGT00550000074327.
HOGENOMi HOG000010230.
HOVERGENi HBG054555.
InParanoidi Q8N394.
OMAi TENIVIL.
OrthoDBi EOG7BKCT0.
PhylomeDBi Q8N394.
TreeFami TF328339.

Miscellaneous databases

ChiTaRSi TMTC2. human.
GeneWikii TMTC2.
GenomeRNAii 160335.
NextBioi 87945.
PROi Q8N394.

Gene expression databases

Bgeei Q8N394.
CleanExi HS_TMTC2.
ExpressionAtlasi Q8N394. baseline and differential.
Genevestigatori Q8N394.

Family and domain databases

Gene3Di 1.25.40.10. 3 hits.
InterProi IPR013618. DUF1736.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view ]
Pfami PF08409. DUF1736. 1 hit.
PF07719. TPR_2. 1 hit.
[Graphical view ]
SMARTi SM00028. TPR. 8 hits.
[Graphical view ]
PROSITEi PS50005. TPR. 9 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Embryo.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Melanoma.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.

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: October 29, 2014
This is version 101 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3