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Protein

Transmembrane and coiled-coil domains protein 2

Gene

TMCC2

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

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
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:24239. TMCC2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei649 – 66921HelicalSequence AnalysisAdd
BLAST
Transmembranei682 – 70221HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134963344.

Polymorphism and mutation databases

BioMutaiTMCC2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 709709Transmembrane and coiled-coil domains protein 2PRO_0000184597Add
BLAST

Proteomic databases

MaxQBiO75069.
PaxDbiO75069.
PRIDEiO75069.

PTM databases

PhosphoSiteiO75069.

Expressioni

Gene expression databases

BgeeiO75069.
CleanExiHS_TMCC2.
ExpressionAtlasiO75069. baseline and differential.
GenevestigatoriO75069.

Organism-specific databases

HPAiHPA014254.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
APOEP026495EBI-726731,EBI-1222467
TMCC2Q7Z6C63EBI-726731,EBI-10177480

Protein-protein interaction databases

BioGridi115240. 25 interactions.
IntActiO75069. 5 interactions.
STRINGi9606.ENSP00000350718.

Structurei

3D structure databases

ProteinModelPortaliO75069.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili333 – 36836Sequence AnalysisAdd
BLAST
Coiled coili514 – 633120Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the TEX28 family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG319116.
GeneTreeiENSGT00390000007639.
HOGENOMiHOG000294160.
HOVERGENiHBG057342.
InParanoidiO75069.
OMAiCRSDELQ.
OrthoDBiEOG7W6WKN.
PhylomeDBiO75069.
TreeFamiTF316292.

Family and domain databases

InterProiIPR019394. Predicted_TM_coiled-coil_2.
[Graphical view]
PfamiPF10267. Tmemb_cc2. 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: 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

Sequence cautioni

The sequence BAA32326.3 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti226 – 24924TALLL…GIGDK → MNQVVQPLMSRHSACRGSQA HLSW in BAB46924 (Ref. 8) CuratedAdd
BLAST

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7878Missing in isoform 2. 1 PublicationVSP_046245Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB007950 mRNA. Translation: BAA32326.3. Different initiation.
AK131419 mRNA. Translation: BAD18566.1.
AK293734 mRNA. Translation: BAH11583.1.
BC131629 mRNA. Translation: AAI31630.1.
AC093422 Genomic DNA. No translation available.
CH471067 Genomic DNA. Translation: EAW91548.1.
AB001596 mRNA. Translation: BAB46924.1.
CCDSiCCDS30984.1. [O75069-1]
CCDS55676.1. [O75069-2]
RefSeqiNP_001229854.1. NM_001242925.1. [O75069-2]
NP_001284540.1. NM_001297611.1.
NP_001284542.1. NM_001297613.1.
NP_055673.2. NM_014858.3. [O75069-1]
XP_005245741.1. XM_005245684.1. [O75069-2]
XP_005245742.1. XM_005245685.3. [O75069-2]
XP_006711757.1. XM_006711694.1. [O75069-2]
UniGeneiHs.6360.

Genome annotation databases

EnsembliENST00000358024; ENSP00000350718; ENSG00000133069. [O75069-1]
ENST00000545499; ENSP00000437943; ENSG00000133069. [O75069-2]
GeneIDi9911.
KEGGihsa:9911.
UCSCiuc001hca.3. human. [O75069-1]

Polymorphism and mutation databases

BioMutaiTMCC2.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB007950 mRNA. Translation: BAA32326.3. Different initiation.
AK131419 mRNA. Translation: BAD18566.1.
AK293734 mRNA. Translation: BAH11583.1.
BC131629 mRNA. Translation: AAI31630.1.
AC093422 Genomic DNA. No translation available.
CH471067 Genomic DNA. Translation: EAW91548.1.
AB001596 mRNA. Translation: BAB46924.1.
CCDSiCCDS30984.1. [O75069-1]
CCDS55676.1. [O75069-2]
RefSeqiNP_001229854.1. NM_001242925.1. [O75069-2]
NP_001284540.1. NM_001297611.1.
NP_001284542.1. NM_001297613.1.
NP_055673.2. NM_014858.3. [O75069-1]
XP_005245741.1. XM_005245684.1. [O75069-2]
XP_005245742.1. XM_005245685.3. [O75069-2]
XP_006711757.1. XM_006711694.1. [O75069-2]
UniGeneiHs.6360.

3D structure databases

ProteinModelPortaliO75069.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115240. 25 interactions.
IntActiO75069. 5 interactions.
STRINGi9606.ENSP00000350718.

PTM databases

PhosphoSiteiO75069.

Polymorphism and mutation databases

BioMutaiTMCC2.

Proteomic databases

MaxQBiO75069.
PaxDbiO75069.
PRIDEiO75069.

Protocols and materials databases

DNASUi9911.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358024; ENSP00000350718; ENSG00000133069. [O75069-1]
ENST00000545499; ENSP00000437943; ENSG00000133069. [O75069-2]
GeneIDi9911.
KEGGihsa:9911.
UCSCiuc001hca.3. human. [O75069-1]

Organism-specific databases

CTDi9911.
GeneCardsiGC01P205197.
H-InvDBHIX0160023.
HGNCiHGNC:24239. TMCC2.
HPAiHPA014254.
neXtProtiNX_O75069.
PharmGKBiPA134963344.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG319116.
GeneTreeiENSGT00390000007639.
HOGENOMiHOG000294160.
HOVERGENiHBG057342.
InParanoidiO75069.
OMAiCRSDELQ.
OrthoDBiEOG7W6WKN.
PhylomeDBiO75069.
TreeFamiTF316292.

Miscellaneous databases

ChiTaRSiTMCC2. human.
GenomeRNAii9911.
NextBioi37387.
PROiO75069.

Gene expression databases

BgeeiO75069.
CleanExiHS_TMCC2.
ExpressionAtlasiO75069. baseline and differential.
GenevestigatoriO75069.

Family and domain databases

InterProiIPR019394. Predicted_TM_coiled-coil_2.
[Graphical view]
PfamiPF10267. Tmemb_cc2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain."
    Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., Nomura N., Ohara O.
    DNA Res. 4:345-349(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  3. Ohara O., Nagase T., Kikuno R.
    Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  4. "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] (ISOFORMS 1 AND 2).
    Tissue: Brain and Cerebellum.
  5. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] (ISOFORM 1).
  8. "Molecular cloning of a gene specifically expressed in human central nervous system."
    Yoshimoto M., Yazaki M., Takayama K., Matsumoto K., Tsuritani K.
    Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 226-709 (ISOFORMS 1/2).
    Tissue: Brain.

Entry informationi

Entry nameiTMCC2_HUMAN
AccessioniPrimary (citable) accession number: O75069
Secondary accession number(s): A2RRH3, B7Z1P7, Q6ZN09
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: April 12, 2005
Last modified: April 29, 2015
This is version 111 of the entry and version 3 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.