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P0DI81

- TPC2A_HUMAN

UniProt

P0DI81 - TPC2A_HUMAN

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Protein

Trafficking protein particle complex subunit 2

Gene

TRAPPC2

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

Functioni

Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi.By similarity

GO - Molecular functioni

  1. ion channel binding Source: BHF-UCL
  2. transcription factor binding Source: UniProtKB

GO - Biological processi

  1. ER to Golgi vesicle-mediated transport Source: UniProtKB
  2. regulation of transcription, DNA-templated Source: UniProtKB
  3. skeletal system development Source: UniProtKB
  4. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

ER-Golgi transport, Transcription, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Trafficking protein particle complex subunit 2
Alternative name(s):
Sedlin
Gene namesi
Name:TRAPPC2
Synonyms:SEDL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:23068. TRAPPC2.

Subcellular locationi

Cytoplasmperinuclear region. Endoplasmic reticulum. Golgi apparatus. Nucleus
Note: Localized in perinuclear granular structures.

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-KW
  2. Golgi apparatus Source: UniProtKB-KW
  3. nucleus Source: UniProtKB-KW
  4. perinuclear region of cytoplasm Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]: X-linked recessive disorder of endochondral bone formation.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471D → Y in SEDT; probable loss of function. 1 Publication
VAR_012358
Natural varianti73 – 731S → L in SEDT; loss of interaction with ENO1, PITX1 and SF1. 1 Publication
VAR_012359
Natural varianti83 – 831F → S in SEDT; mild form; loss of interaction with ENO1, PITX1 and SF1. 1 Publication
VAR_012361
Natural varianti130 – 1301V → D in SEDT; loss of interaction with ENO1, PITX1 and SF1. 1 Publication
VAR_012360

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi313400. phenotype.
Orphaneti93284. Spondyloepiphyseal dysplasia tarda.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 140140Trafficking protein particle complex subunit 2PRO_0000211566Add
BLAST

Proteomic databases

MaxQBiP0DI81.
PRIDEiP0DI81.

Expressioni

Tissue specificityi

Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, fetal cartilage, fibroblasts, placenta and lymphocytes.1 Publication

Gene expression databases

BgeeiP0DI81.
CleanExiHS_TRAPPC2.
ExpressionAtlasiP0DI81. baseline and differential.
GenevestigatoriO14582.

Organism-specific databases

HPAiCAB004665.

Interactioni

Subunit structurei

Can homodimerize. Component of the multisubunit TRAPP (transport protein particle) complex, which includes TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12. Interacts with ENO1, PITX1 and SF1.4 Publications

Protein-protein interaction databases

BioGridi112299. 22 interactions.
IntActiP0DI81. 9 interactions.
MINTiMINT-155352.

Structurei

3D structure databases

ProteinModelPortaliP0DI81.
SMRiP0DI81. Positions 1-140.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

GeneTreeiENSGT00510000047168.
InParanoidiP0DI81.
OMAiGHNDNPI.
OrthoDBiEOG7JQBQ9.
PhylomeDBiP0DI81.
TreeFamiTF314814.

Family and domain databases

InterProiIPR011012. Longin-like_dom.
IPR006722. Sedlin.
[Graphical view]
PANTHERiPTHR12403. PTHR12403. 1 hit.
PfamiPF04628. Sedlin_N. 1 hit.
[Graphical view]
SUPFAMiSSF64356. SSF64356. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: P0DI81-1) [UniParc]FASTAAdd to Basket

Also known as: Major

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
MSGSFYFVIV GHHDNPVFEM EFLPAGKAES KDDHRHLNQF IAHAALDLVD
60 70 80 90 100
ENMWLSNNMY LKTVDKFNEW FVSAFVTAGH MRFIMLHDIR QEDGIKNFFT
110 120 130 140
DVYDLYIKFS MNPFYEPNSP IRSSAFDRKV QFLGKKHLLS
Length:140
Mass (Da):16,445
Last modified:September 21, 2011 - v1
Checksum:iB099943C6F88952C
GO
Isoform 2 (identifier: P0DI81-2) [UniParc] [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSSWKQDRSGLRSTELNVLEYQPLCAVRSHILKTM
     80-80: H → HILTFLVKVTN
     81-140: Missing.

Show »
Length:124
Mass (Da):14,275
Checksum:i753235EC5EC7DB78
GO
Isoform 3 (identifier: P0DI81-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSSWKQDRSGLRSTELNVLEYQPLCAVRSHILKTM

Show »
Length:174
Mass (Da):20,374
Checksum:i6C107891FCD4AE37
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471D → Y in SEDT; probable loss of function. 1 Publication
VAR_012358
Natural varianti73 – 731S → L in SEDT; loss of interaction with ENO1, PITX1 and SF1. 1 Publication
VAR_012359
Natural varianti83 – 831F → S in SEDT; mild form; loss of interaction with ENO1, PITX1 and SF1. 1 Publication
VAR_012361
Natural varianti130 – 1301V → D in SEDT; loss of interaction with ENO1, PITX1 and SF1. 1 Publication
VAR_012360

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MSSWKQDRSGLRSTELNVLE YQPLCAVRSHILKTM in isoform 2 and isoform 3. 1 PublicationVSP_041681
Alternative sequencei80 – 801H → HILTFLVKVTN in isoform 2. 1 PublicationVSP_006040
Alternative sequencei81 – 14060Missing in isoform 2. 1 PublicationVSP_041682Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF157065
, AF157062, AF157063, AF157064 Genomic DNA. Translation: AAD49845.1.
AC003037 Genomic DNA. No translation available.
AK310542 mRNA. No translation available.
DA542477 mRNA. No translation available.
DB101396 mRNA. No translation available.
BC016915 mRNA. Translation: AAH16915.1.
BC052618 mRNA. Translation: AAH52618.1.
CCDSiCCDS48082.1.
CCDS48083.2. [P0DI81-3]
RefSeqiNP_001011658.1. NM_001011658.3. [P0DI81-1]
NP_001122307.2. NM_001128835.2. [P0DI81-3]
NP_055378.1. NM_014563.5. [P0DI81-1]
UniGeneiHs.592238.
Hs.622292.

Genome annotation databases

EnsembliENST00000359680; ENSP00000352708; ENSG00000196459. [P0DI81-1]
ENST00000380579; ENSP00000369953; ENSG00000196459. [P0DI81-1]
ENST00000458511; ENSP00000392495; ENSG00000196459. [P0DI81-3]
GeneIDi6399.
KEGGihsa:6399.
UCSCiuc010nej.2. human. [P0DI81-3]
uc010nem.2. human. [P0DI81-2]
uc022btf.1. human.

Polymorphism databases

DMDMi347662477.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF157065
, AF157062 , AF157063 , AF157064 Genomic DNA. Translation: AAD49845.1 .
AC003037 Genomic DNA. No translation available.
AK310542 mRNA. No translation available.
DA542477 mRNA. No translation available.
DB101396 mRNA. No translation available.
BC016915 mRNA. Translation: AAH16915.1 .
BC052618 mRNA. Translation: AAH52618.1 .
CCDSi CCDS48082.1.
CCDS48083.2. [P0DI81-3 ]
RefSeqi NP_001011658.1. NM_001011658.3. [P0DI81-1 ]
NP_001122307.2. NM_001128835.2. [P0DI81-3 ]
NP_055378.1. NM_014563.5. [P0DI81-1 ]
UniGenei Hs.592238.
Hs.622292.

3D structure databases

ProteinModelPortali P0DI81.
SMRi P0DI81. Positions 1-140.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112299. 22 interactions.
IntActi P0DI81. 9 interactions.
MINTi MINT-155352.

Polymorphism databases

DMDMi 347662477.

Proteomic databases

MaxQBi P0DI81.
PRIDEi P0DI81.

Protocols and materials databases

DNASUi 6399.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000359680 ; ENSP00000352708 ; ENSG00000196459 . [P0DI81-1 ]
ENST00000380579 ; ENSP00000369953 ; ENSG00000196459 . [P0DI81-1 ]
ENST00000458511 ; ENSP00000392495 ; ENSG00000196459 . [P0DI81-3 ]
GeneIDi 6399.
KEGGi hsa:6399.
UCSCi uc010nej.2. human. [P0DI81-3 ]
uc010nem.2. human. [P0DI81-2 ]
uc022btf.1. human.

Organism-specific databases

CTDi 6399.
GeneCardsi GC0XM013640.
GeneReviewsi TRAPPC2.
HGNCi HGNC:23068. TRAPPC2.
HPAi CAB004665.
MIMi 300202. gene.
313400. phenotype.
neXtProti NX_P0DI81.
Orphaneti 93284. Spondyloepiphyseal dysplasia tarda.
GenAtlasi Search...

Phylogenomic databases

GeneTreei ENSGT00510000047168.
InParanoidi P0DI81.
OMAi GHNDNPI.
OrthoDBi EOG7JQBQ9.
PhylomeDBi P0DI81.
TreeFami TF314814.

Miscellaneous databases

ChiTaRSi TRAPPC2. human.
GeneWikii TRAPPC2.
GenomeRNAii 6399.
NextBioi 24860.
PROi P0DI81.
SOURCEi Search...

Gene expression databases

Bgeei P0DI81.
CleanExi HS_TRAPPC2.
ExpressionAtlasi P0DI81. baseline and differential.
Genevestigatori O14582.

Family and domain databases

InterProi IPR011012. Longin-like_dom.
IPR006722. Sedlin.
[Graphical view ]
PANTHERi PTHR12403. PTHR12403. 1 hit.
Pfami PF04628. Sedlin_N. 1 hit.
[Graphical view ]
SUPFAMi SSF64356. SSF64356. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda."
    Gedeon A.K., Colley A., Jamieson R., Thompson E.M., Rogers J., Sillence D., Tiller G.E., Mulley J.C., Gecz J.
    Nat. Genet. 22:400-404(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, INVOLVEMENT IN SEDT.
  2. "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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-130 (ISOFORM 3).
  3. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    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] (ISOFORM 1).
    Tissue: Ovary and Prostate.
  5. "Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda."
    Gecz J., Hillman M.A., Gedeon A.K., Cox T.C., Baker E., Mulley J.C.
    Genomics 69:242-251(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: GENOMIC ORGANIZATION, ALTERNATIVE SPLICING, SUBCELLULAR LOCATION.
  6. Cited for: IDENTIFICATION IN TRAPP COMPLEX.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking."
    Scrivens P.J., Noueihed B., Shahrzad N., Hul S., Brunet S., Sacher M.
    Mol. Biol. Cell 22:2083-2093(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN TRAPP COMPLEX.
  9. "Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not."
    Gecz J., Shaw M.A., Bellon J.R., de Barros Lopes M.
    Gene 320:137-144(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT SEDL TYR-47.
  10. "TRAPPC2L is a novel, highly conserved TRAPP-interacting protein."
    Scrivens P.J., Shahrzad N., Moores A., Morin A., Brunet S., Sacher M.
    Traffic 10:724-736(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN TRAPP COMPLEX, INTERACTION WITH TRAPPC2L.
  11. "SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1."
    Jeyabalan J., Nesbit M.A., Galvanovskis J., Callaghan R., Rorsman P., Thakker R.V.
    PLoS ONE 5:E10646-E10646(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: SELF-ASSOCIATION, INTERACTION WITH ENO1; PITX1 AND SF1, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS SEDL TYR-47; LEU-73; SER-83 AND ASP-130.
  12. Cited for: VARIANTS SEDT TYR-47; LEU-73 AND ASP-130.
  13. "A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree."
    Grunebaum E., Arpaia E., MacKenzie J.J., Fitzpatrick J., Ray P.N., Roifman C.M.
    J. Med. Genet. 38:409-411(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SEDT SER-83.

Entry informationi

Entry nameiTPC2A_HUMAN
AccessioniPrimary (citable) accession number: P0DI81
Secondary accession number(s): A6NEG0, O14582, Q9HD16
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 21, 2011
Last sequence update: September 21, 2011
Last modified: October 29, 2014
This is version 31 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

Miscellaneous

A paralogous gene encoding an identical protein appears to have arisen by retrotransposition of a cDNA from this locus and to have acquired a promoter and non-coding 5' UTR from the ZNF547 gene.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3