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Protein

Transmembrane and coiled-coil domains protein 2

Gene

TMCC2

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

Functioni

May be involved in the regulation of the proteolytic processing of the amyloid precursor protein (APP) possibly also implicating APOE.1 Publication

GO - Biological processi

  • amyloid precursor protein metabolic process Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane and coiled-coil domains protein 2
Alternative name(s):
Cerebral protein 11
Gene namesi
Name:TMCC2
Synonyms:KIAA0481
ORF Names:hucep-11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:24239. TMCC2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei649 – 669HelicalSequence analysisAdd BLAST21
Transmembranei682 – 702HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000133069.
PharmGKBiPA134963344.

Polymorphism and mutation databases

BioMutaiTMCC2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001845971 – 709Transmembrane and coiled-coil domains protein 2Add BLAST709

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei6PhosphoserineBy similarity1
Modified residuei163Omega-N-methylarginineBy similarity1
Modified residuei438PhosphoserineBy similarity1
Modified residuei464PhosphoserineCombined sources1
Modified residuei470PhosphoserineBy similarity1
Modified residuei503PhosphoserineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiO75069.
MaxQBiO75069.
PaxDbiO75069.
PeptideAtlasiO75069.
PRIDEiO75069.

PTM databases

iPTMnetiO75069.
PhosphoSitePlusiO75069.

Expressioni

Gene expression databases

BgeeiENSG00000133069.
CleanExiHS_TMCC2.
ExpressionAtlasiO75069. baseline and differential.
GenevisibleiO75069. HS.

Organism-specific databases

HPAiHPA014254.

Interactioni

Subunit structurei

Interacts with APOE and proteolytic processed C-terminal fragment C99 of the amyloid precursor protein (APP C99).1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi115240. 38 interactors.
IntActiO75069. 25 interactors.
MINTiMINT-1376632.
STRINGi9606.ENSP00000350718.

Structurei

3D structure databases

ProteinModelPortaliO75069.
SMRiO75069.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili333 – 368Sequence analysisAdd BLAST36
Coiled coili514 – 633Sequence analysisAdd BLAST120

Sequence similaritiesi

Belongs to the TEX28 family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3850. Eukaryota.
ENOG410Y9KV. LUCA.
GeneTreeiENSGT00390000007639.
HOGENOMiHOG000294160.
HOVERGENiHBG057342.
InParanoidiO75069.
OrthoDBiEOG091G08K8.
PhylomeDBiO75069.
TreeFamiTF316292.

Family and domain databases

InterProiView protein in InterPro
IPR019394. TEX28/TMCC.
PANTHERiPTHR17613. PTHR17613. 1 hit.
PfamiView protein in Pfam
PF10267. Tmemb_cc2. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75069-1) [UniParc]FASTAAdd to basket

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
MKRCRSDELQ QQQGEEDGAG LEDAASHLPG ADLRPGETTG ANSAGGPTSD
60 70 80 90 100
AGAAAAPNPG PRSKPPDLKK IQQLSEGSMF GHGLKHLFHS RRRSREREHQ
110 120 130 140 150
TSQDSQQHQQ QQGMSDHDSP DEKERSPEMH RVSYAMSLHD LPARPTAFNR
160 170 180 190 200
VLQQIRSRPS IKRGASLHSS SGGGSSGSSS RRTKSSSLEP QRGSPHLLRK
210 220 230 240 250
APQDSSLAAI LHQHQCRPRS SSTTDTALLL ADGSNVYLLA EEAEGIGDKV
260 270 280 290 300
DKGDLVALSL PAGHGDTDGP ISLDVPDGAP DPQRTKAAID HLHQKILKIT
310 320 330 340 350
EQIKIEQEAR DDNVAEYLKL ANNADKQQVS RIKQVFEKKN QKSAQTIAQL
360 370 380 390 400
HKKLEHYRRR LKEIEQNGPS RQPKDVLRDM QQGLKDVGAN VRAGISGFGG
410 420 430 440 450
GVVEGVKGSL SGLSQATHTA VVSKPREFAS LIRNKFGSAD NIAHLKDPLE
460 470 480 490 500
DGPPEEAARA LSGSATLVSS PKYGSDDECS SASASSAGAG SNSGAGPGGA
510 520 530 540 550
LGSPKSNALY GAPGNLDALL EELREIKEGQ SHLEDSMEDL KTQLQRDYTY
560 570 580 590 600
MTQCLQEERY RYERLEEQLN DLTELHQNEM TNLKQELASM EEKVAYQSYE
610 620 630 640 650
RARDIQEAVE SCLTRVTKLE LQQQQQQVVQ LEGVENANAR ALLGKFINVI
660 670 680 690 700
LALMAVLLVF VSTIANFITP LMKTRLRITS TTLLVLVLFL LWKHWDSLTY

LLEHVLLPS
Length:709
Mass (Da):77,449
Last modified:April 12, 2005 - v3
Checksum:i002993EA6B0E4546
GO
Isoform 2 (identifier: O75069-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-78: Missing.

Note: No experimental confirmation available.
Show »
Length:631
Mass (Da):69,586
Checksum:iB8F8F066BDBB8AFA
GO
Isoform 3 (identifier: O75069-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-249: MKRCRSDELQ...AEEAEGIGDK → MKSKEEETA

Show »
Length:469
Mass (Da):51,658
Checksum:iC6A2FC63518C3C4E
GO
Isoform 4 (identifier: O75069-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-389: MKRCRSDELQ...MQQGLKDVGA → MEEKVAYQSY...NARALLGKFI
     589-643: SMEEKVAYQS...VENANARALL → TLLQEGPLDF...GSLECSPTWR
     644-709: Missing.

Show »
Length:312
Mass (Da):33,776
Checksum:iF689253EAB9508AD
GO
Isoform 5 (identifier: O75069-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-249: MKRCRSDELQ...AEEAEGIGDK → MNQVVQPLMSRHSACRGSQAHLSW

Show »
Length:484
Mass (Da):53,330
Checksum:i3059EB939B553243
GO

Sequence cautioni

The sequence BAA32326 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti466T → A in BAG53139 (PubMed:14702039).Curated1
Sequence conflicti470S → I in BAG37022 (PubMed:14702039).Curated1
Sequence conflicti492N → Y in BAG37022 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0589381 – 389MKRCR…KDVGA → MEEKVAYQSYERARDIQEAV ESCLTRVTKLELQQQQQQVV QLEGVENANARALLGKFI in isoform 4. Add BLAST389
Alternative sequenceiVSP_0589391 – 249MKRCR…GIGDK → MKSKEEETA in isoform 3. Add BLAST249
Alternative sequenceiVSP_0589401 – 249MKRCR…GIGDK → MNQVVQPLMSRHSACRGSQA HLSW in isoform 5. Add BLAST249
Alternative sequenceiVSP_0462451 – 78Missing in isoform 2. 1 PublicationAdd BLAST78
Alternative sequenceiVSP_058941589 – 643SMEEK…ARALL → TLLQEGPLDFFVCPVWPPAQ TVHSSSSCPLLCTCFCLTPS PCWPEGSLECSPTWR in isoform 4. Add BLAST55
Alternative sequenceiVSP_058942644 – 709Missing in isoform 4. Add BLAST66

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB007950 mRNA. Translation: BAA32326.3. Different initiation.
AB001596 mRNA. Translation: BAB46924.1.
AK095816 mRNA. Translation: BAG53139.1.
AK131419 mRNA. Translation: BAD18566.1.
AK293734 mRNA. Translation: BAH11583.1.
AK314398 mRNA. Translation: BAG37022.1.
AC093422 Genomic DNA. No translation available.
CH471067 Genomic DNA. Translation: EAW91548.1.
BC053876 mRNA. Translation: AAH53876.1.
BC131629 mRNA. Translation: AAI31630.1.
CCDSiCCDS30984.1. [O75069-1]
CCDS55676.1. [O75069-2]
CCDS73010.1. [O75069-3]
CCDS76257.1. [O75069-5]
RefSeqiNP_001229854.1. NM_001242925.1. [O75069-2]
NP_001284540.1. NM_001297611.1. [O75069-5]
NP_001284542.1. NM_001297613.1. [O75069-3]
NP_055673.2. NM_014858.3. [O75069-1]
XP_005245741.1. XM_005245684.1. [O75069-2]
XP_005245742.1. XM_005245685.4. [O75069-2]
UniGeneiHs.6360.

Genome annotation databases

EnsembliENST00000329800; ENSP00000329436; ENSG00000133069. [O75069-3]
ENST00000358024; ENSP00000350718; ENSG00000133069. [O75069-1]
ENST00000545499; ENSP00000437943; ENSG00000133069. [O75069-2]
ENST00000637895; ENSP00000490308; ENSG00000133069. [O75069-5]
GeneIDi9911.
KEGGihsa:9911.
UCSCiuc001hca.4. human. [O75069-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTMCC2_HUMAN
AccessioniPrimary (citable) accession number: O75069
Secondary accession number(s): A2RRH3
, B2RAX5, B3KTM7, B7Z1P7, Q6ZN09, Q7Z6C6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: April 12, 2005
Last modified: August 30, 2017
This is version 130 of the entry and version 3 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families