Q9UHN6 (TMEM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 80.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Transmembrane protein 2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1383 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Transmembrane Transmembrane helix |
| Molecular function | Developmental protein |
| PTM | Glycoprotein Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | integral 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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1383 | 1383 | Transmembrane protein 2 | PRO_0000289972 | |||||
Regions | |||||||||
| Transmembrane | 83 – 103 | 21 | Helical; Potential | ||||||
| Domain | 121 – 245 | 125 | G8 | ||||||
| Repeat | 669 – 691 | 23 | PbH1 1 | ||||||
| Repeat | 711 – 733 | 23 | PbH1 2 | ||||||
| Repeat | 791 – 812 | 22 | PbH1 3 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 10 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 63 | 1 | Phosphoserine Ref.8 | ||||||
| Glycosylation | 292 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 914 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 1234 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 402 – 464 | 63 | Missing in isoform 2. | VSP_041401 | |||||
| Natural variant | 245 | 1 | R → K. Corresponds to variant rs25688 [ dbSNP | Ensembl ]. | VAR_032669 | |||||
| Natural variant | 291 | 1 | R → H. Corresponds to variant rs25689 [ dbSNP | Ensembl ]. | VAR_032670 | |||||
| Natural variant | 291 | 1 | R → L. Corresponds to variant rs25689 [ dbSNP | Ensembl ]. | VAR_062197 | |||||
| Natural variant | 291 | 1 | R → P. Corresponds to variant rs25689 [ dbSNP | Ensembl ]. | VAR_062198 | |||||
| Natural variant | 423 | 1 | D → E. Corresponds to variant rs25695 [ dbSNP | Ensembl ]. | VAR_032671 | |||||
| Natural variant | 765 | 1 | P → S. Corresponds to variant rs25692 [ dbSNP | Ensembl ]. | VAR_032672 | |||||
| Natural variant | 1010 | 1 | I → V. Corresponds to variant rs17057133 [ dbSNP | Ensembl ]. | VAR_032673 | |||||
| Natural variant | 1254 | 1 | S → N. Corresponds to variant rs2297089 [ dbSNP | Ensembl ]. | VAR_032674 | |||||
| Natural variant | 1280 | 1 | G → D. Corresponds to variant rs17475375 [ dbSNP | Ensembl ]. | VAR_032675 | |||||
Experimental info | |||||||||
| Sequence conflict | 1223 | 1 | T → A in BAC11574. Ref.7 | ||||||
| Sequence conflict | 1322 | 1 | I → V in BAC11574. Ref.7 | ||||||
Sequences
| ||||||||||||||||||||||||
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. 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. 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. 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. |
| IPI | IPI00170706. IPI01011640. |
| RefSeq | NP_001129292.1. NM_001135820.1. NP_037522.1. NM_013390.2. |
| UniGene | Hs.494146. |
3D structure databases | |
| ProteinModelPortal | Q9UHN6. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9UHN6. 1 interaction. |
| STRING | 9606.ENSP00000366266. |
PTM databases | |
| PhosphoSite | Q9UHN6. |
Polymorphism databases | |
| DMDM | 74753330. |
Proteomic databases | |
| PaxDb | Q9UHN6. |
| PRIDE | Q9UHN6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000377044; ENSP00000366243; ENSG00000135048. ENST00000377066; ENSP00000366266; ENSG00000135048. |
| GeneID | 23670. |
| KEGG | hsa:23670. |
| UCSC | uc010mos.2. human. uc011lsa.1. human. |
Organism-specific databases | |
| CTD | 23670. |
| GeneCards | GC09M074298. |
| HGNC | HGNC:11869. TMEM2. |
| HPA | HPA044889. |
| MIM | 605835. gene. |
| neXtProt | NX_Q9UHN6. |
| PharmGKB | PA36570. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG12793. |
| HOVERGEN | HBG052198. |
| InParanoid | Q9UHN6. |
| OMA | RNYGFQG. |
| OrthoDB | EOG4DR9BF. |
| PhylomeDB | Q9UHN6. |
Gene expression databases | |
| ArrayExpress | Q9UHN6. |
| Bgee | Q9UHN6. |
| CleanEx | HS_TMEM2. |
| Genevestigator | Q9UHN6. |
Family and domain databases | |
| InterPro | IPR019316. G8_domain. IPR011050. Pectin_lyase_fold/virulence. [Graphical view] |
| Pfam | PF10162. G8. 1 hit. [Graphical view] |
| SUPFAM | SSF51126. Pectin_lyas_like. 1 hit. |
| PROSITE | PS51484. G8. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | TMEM2. human. |
| GenomeRNAi | 23670. |
| NextBio | 46523. |
| SOURCE | Search... |
Entry information
| Entry name | TMEM2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UHN6 Secondary accession number(s): A6H8W9 Q9P2D5 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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 |

Clusters with
