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Q9UHN6 (TMEM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 3, 2013. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane protein 2
Gene names
Name:TMEM2
Synonyms:KIAA1412
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1383 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be required for the heart morphogenesis By similarity.

Subcellular location

Membrane; Single-pass membrane protein Potential.

Tissue specificity

Widely expressed. Ref.1

Sequence similarities

Belongs to the TMEM2 family.

Contains 1 G8 domain.

Contains 3 PbH1 repeats.

Sequence caution

The sequence BAA92650.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAC11574.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence CAI15172.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI15173.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI15174.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI15175.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
   PTMGlycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmulticellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral to membrane

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UHN6-1)

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.
Isoform 2 (identifier: Q9UHN6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     402-464: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13831383Transmembrane protein 2
PRO_0000289972

Regions

Transmembrane83 – 10321Helical; Potential
Domain121 – 245125G8
Repeat669 – 69123PbH1 1
Repeat711 – 73323PbH1 2
Repeat791 – 81222PbH1 3

Amino acid modifications

Modified residue101Phosphoserine Ref.8
Modified residue631Phosphoserine Ref.8
Glycosylation2921N-linked (GlcNAc...) Potential
Glycosylation9141N-linked (GlcNAc...) Potential
Glycosylation12341N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence402 – 46463Missing in isoform 2.
VSP_041401
Natural variant2451R → K.
Corresponds to variant rs25688 [ dbSNP | Ensembl ].
VAR_032669
Natural variant2911R → H.
Corresponds to variant rs25689 [ dbSNP | Ensembl ].
VAR_032670
Natural variant2911R → L.
Corresponds to variant rs25689 [ dbSNP | Ensembl ].
VAR_062197
Natural variant2911R → P.
Corresponds to variant rs25689 [ dbSNP | Ensembl ].
VAR_062198
Natural variant4231D → E.
Corresponds to variant rs25695 [ dbSNP | Ensembl ].
VAR_032671
Natural variant7651P → S.
Corresponds to variant rs25692 [ dbSNP | Ensembl ].
VAR_032672
Natural variant10101I → V.
Corresponds to variant rs17057133 [ dbSNP | Ensembl ].
VAR_032673
Natural variant12541S → N.
Corresponds to variant rs2297089 [ dbSNP | Ensembl ].
VAR_032674
Natural variant12801G → D.
Corresponds to variant rs17475375 [ dbSNP | Ensembl ].
VAR_032675

Experimental info

Sequence conflict12231T → A in BAC11574. Ref.7
Sequence conflict13221I → V in BAC11574. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 18954F8ADF94C317

FASTA1,383154,374
        10         20         30         40         50         60 
MYATDSRGHS PAFLQPQNGN SRHPSGYVPG KVVPLRPPPP PKSQASAKFT SIRREDRATF 

        70         80         90        100        110        120 
AFSPEEQQAQ RESQKQKRHK NTFICFAITS FSFFIALAII LGISSKYAPD ENCPDQNPRL 

       130        140        150        160        170        180 
RNWDPGQDSA KQVVIKEGDM LRLTSDATVH SIVIQDGGLL VFGDNKDGSR NITLRTHYIL 

       190        200        210        220        230        240 
IQDGGALHIG AEKCRYKSKA TITLYGKSDE GESMPTFGKK FIGVEAGGTL ELHGARKASW 

       250        260        270        280        290        300 
TLLARTLNSS GLPFGSYTFE KDFSRGLNVR VIDQDTAKIL ESERFDTHEY RNESRRLQEF 

       310        320        330        340        350        360 
LRFQDPGRIV AIAVGDSAAK SLLQGTIQMI QERLGSELIQ GLGYRQAWAL VGVIDGGSTS 

       370        380        390        400        410        420 
CNESVRNYEN HSSGGKALAQ REFYTVDGQK FSVTAYSEWI EGVSLSGFRV EVVDGVKLNL 

       430        440        450        460        470        480 
LDDVSSWKPG DQIVVASTDY SMYQAEEFTL LPCSECSHFQ VKVKETPQFL HMGEIIDGVD 

       490        500        510        520        530        540 
MRAEVGILTR NIVIQGEVED SCYAENQCQF FDYDTFGGHI MIMKNFTSVH LSYVELKHMG 

       550        560        570        580        590        600 
QQQMGRYPVH FHLCGDVDYK GGYRHATFVD GLSIHHSFSR CITVHGTNGL LIKDTIGFDT 

       610        620        630        640        650        660 
LGHCFFLEDG IEQRNTLFHN LGLLTKPGTL LPTDRNNSMC TTMRDKVFGN YIPVPATDCM 

       670        680        690        700        710        720 
AVSTFWIAHP NNNLINNAAA GSQDAGIWYL FHKEPTGESS GLQLLAKPEL TPLGIFYNNR 

       730        740        750        760        770        780 
VHSNFKAGLF IDKGVKTTNS SAADPREYLC LDNSARFRPH QDANPEKPRV AALIDRLIAF 

       790        800        810        820        830        840 
KNNDNGAWVR GGDIIVQNSA FADNGIGLTF ASDGSFPSDE GSSQEVSESL FVGESRNYGF 

       850        860        870        880        890        900 
QGGQNKYVGT GGIDQKPRTL PRNRTFPIRG FQIYDGPIHL TRSTFKKYVP TPDRYSSAIG 

       910        920        930        940        950        960 
FLMKNSWQIT PRNNISLVKF GPHVSLNVFF GKPGPWFEDC EMDGDKNSIF HDIDGSVTGY 

       970        980        990       1000       1010       1020 
KDAYVGRMDN YLIRHPSCVN VSKWNAVICS GTYAQVYVQT WSTQNLSMTI TRDEYPSNPM 

      1030       1040       1050       1060       1070       1080 
VLRGINQKAA FPQYQPVVML EKGYTIHWNG PAPRTTFLYL VNFNKNDWIR VGLCYPSNTS 

      1090       1100       1110       1120       1130       1140 
FQVTFGYLQR QNGSLSKIEE YEPVHSLEEL QRKQSERKFY FDSSTGLLFL YLKAKSHRHG 

      1150       1160       1170       1180       1190       1200 
HSYCSSQGCE RVKIQAATDS KDISNCMAKA YPQYYRKPSV VKRMPAMLTG LCQGCGTRQV 

      1210       1220       1230       1240       1250       1260 
VFTSDPHKSY LPVQFQSPDK AETQRGDPSV ISVNGTDFTF RSAGVLLLVV DPCSVPFRLT 

      1270       1280       1290       1300       1310       1320 
EKTVFPLADV SRIEEYLKTG IPPRSIVLLS TRGEIKQLNI SHLLVPLGLA KPAHLYDKGS 

      1330       1340       1350       1360       1370       1380 
TIFLGFSGNF KPSWTKLFTS PAGQGLGVLE QFIPLQLDEY GCPRATTVRR RDLELLKQAS 


KAH 

« Hide

Isoform 2 [UniParc].

Checksum: 7F4A1223B8BFBFF3
Show »

FASTA1,320147,439

References

« Hide 'large scale' references
[1]"Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2."
Scott D.A., Drury S., Sundstrom R.A., Bishop J., Swiderski R.E., Carmi R., Ramesh A., Elbedour K., Srikumari Srisailapathy C.R., Keats B.J., Sheffield V.C., Smith R.J.H.
Gene 246:265-274(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
Tissue: Fetal brain.
[2]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[3]"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.
[4]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORMS 1 AND 2).
[7]"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. expand/collapse author list , 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] OF 579-1383.
Tissue: Teratocarcinoma.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-10 AND SER-63, MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF137030 mRNA. Translation: AAF21348.1.
AB037833 mRNA. Translation: BAA92650.2. Different initiation.
AL161732 Genomic DNA. Translation: CAI15172.1. Sequence problems.
AL161732 Genomic DNA. Translation: CAI15173.1. Sequence problems.
AL161732 Genomic DNA. Translation: CAI15174.1. Sequence problems.
AL161732 Genomic DNA. Translation: CAI15175.1. Sequence problems.
AL161732 Genomic DNA. Translation: CAI15176.1.
CH471089 Genomic DNA. Translation: EAW62518.1.
BC140773 mRNA. Translation: AAI40774.1.
BC146780 mRNA. Translation: AAI46781.1.
AK075370 mRNA. Translation: BAC11574.1. Different initiation.
IPIIPI00170706.
IPI01011640.
RefSeqNP_001129292.1. NM_001135820.1.
NP_037522.1. NM_013390.2.
UniGeneHs.494146.

3D structure databases

ProteinModelPortalQ9UHN6.
ModBaseSearch...

Protein-protein interaction databases

IntActQ9UHN6. 1 interaction.
STRING9606.ENSP00000366266.

PTM databases

PhosphoSiteQ9UHN6.

Polymorphism databases

DMDM74753330.

Proteomic databases

PaxDbQ9UHN6.
PRIDEQ9UHN6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000377044; ENSP00000366243; ENSG00000135048.
ENST00000377066; ENSP00000366266; ENSG00000135048.
GeneID23670.
KEGGhsa:23670.
UCSCuc010mos.2. human.
uc011lsa.1. human.

Organism-specific databases

CTD23670.
GeneCardsGC09M074298.
HGNCHGNC:11869. TMEM2.
HPAHPA044889.
MIM605835. gene.
neXtProtNX_Q9UHN6.
PharmGKBPA36570.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOVERGENHBG052198.
InParanoidQ9UHN6.
OMARNYGFQG.
OrthoDBEOG4DR9BF.
PhylomeDBQ9UHN6.

Gene expression databases

ArrayExpressQ9UHN6.
BgeeQ9UHN6.
CleanExHS_TMEM2.
GenevestigatorQ9UHN6.

Family and domain databases

InterProIPR019316. G8_domain.
IPR011050. Pectin_lyase_fold/virulence.
[Graphical view]
PfamPF10162. G8. 1 hit.
[Graphical view]
SUPFAMSSF51126. Pectin_lyas_like. 1 hit.
PROSITEPS51484. G8. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTMEM2. human.
GenomeRNAi23670.
NextBio46523.
SOURCESearch...

Entry information

Entry nameTMEM2_HUMAN
AccessionPrimary (citable) accession number: Q9UHN6
Secondary accession number(s): A6H8W9 expand/collapse secondary AC list , B2RTQ6, Q5T838, Q5T839, Q5T840, Q5T841, Q8NBP6, Q9P2D5
Entry history
Integrated into UniProtKB/Swiss-Prot: June 12, 2007
Last sequence update: May 1, 2000
Last modified: April 3, 2013
This is version 80 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families