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Protein

Disrupted in renal carcinoma protein 2

Gene

DIRC2

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

Functioni

Electrogenic metabolite transporter.1 Publication

Keywordsi

Biological processTransport

Protein family/group databases

TCDBi2.A.1.28.6 the major facilitator superfamily (mfs)

Names & Taxonomyi

Protein namesi
Recommended name:
Disrupted in renal carcinoma protein 2
Alternative name(s):
Disrupted in renal cancer protein 2
Gene namesi
Name:DIRC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000138463.8
HGNCiHGNC:16628 DIRC2
MIMi602773 gene
neXtProtiNX_Q96SL1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 51CytoplasmicSequence analysisAdd BLAST51
Transmembranei52 – 72HelicalSequence analysisAdd BLAST21
Topological domaini73 – 89LumenalSequence analysisAdd BLAST17
Transmembranei90 – 110HelicalSequence analysisAdd BLAST21
Topological domaini111 – 117CytoplasmicSequence analysis7
Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Topological domaini139 – 155LumenalSequence analysisAdd BLAST17
Transmembranei156 – 176HelicalSequence analysisAdd BLAST21
Topological domaini177 – 184CytoplasmicSequence analysis8
Transmembranei185 – 205HelicalSequence analysisAdd BLAST21
Topological domaini206 – 229LumenalSequence analysisAdd BLAST24
Transmembranei230 – 250HelicalSequence analysisAdd BLAST21
Topological domaini251 – 281CytoplasmicSequence analysisAdd BLAST31
Transmembranei282 – 302HelicalSequence analysisAdd BLAST21
Topological domaini303 – 314LumenalSequence analysisAdd BLAST12
Transmembranei315 – 335HelicalSequence analysisAdd BLAST21
Topological domaini336 – 347CytoplasmicSequence analysisAdd BLAST12
Transmembranei348 – 368HelicalSequence analysisAdd BLAST21
Topological domaini369 – 384LumenalSequence analysisAdd BLAST16
Transmembranei385 – 405HelicalSequence analysisAdd BLAST21
Topological domaini406 – 414CytoplasmicSequence analysis9
Transmembranei415 – 435HelicalSequence analysisAdd BLAST21
Topological domaini436 – 442LumenalSequence analysis7
Transmembranei443 – 463HelicalSequence analysisAdd BLAST21
Topological domaini464 – 478CytoplasmicSequence analysisAdd BLAST15

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving DIRC2 has been found in a family with renal carcinoma. Translocation t(2;3)(q35;q21) (PubMed:11912179).1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi14 – 15LL → AA: Abolishes lysosomal localization. 1 Publication2

Organism-specific databases

DisGeNETi84925
MalaCardsiDIRC2
OpenTargetsiENSG00000138463
Orphaneti422526 Hereditary clear cell renal cell carcinoma
PharmGKBiPA27341

Polymorphism and mutation databases

BioMutaiDIRC2
DMDMi74732717

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002713381 – 478Disrupted in renal carcinoma protein 2Add BLAST478

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi209N-linked (GlcNAc...) asparagine1 Publication1

Post-translational modificationi

Cleaved in lysosomes by cathepsin L between Leu-214 and Ala-261, generating a N-glycosylated N-terminal and a non-glycosylated C-terminal fragment.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ96SL1
MaxQBiQ96SL1
PaxDbiQ96SL1
PeptideAtlasiQ96SL1
PRIDEiQ96SL1
ProteomicsDBi78124
78125 [Q96SL1-2]

PTM databases

iPTMnetiQ96SL1
PhosphoSitePlusiQ96SL1

Expressioni

Tissue specificityi

Ubiquitous. Expressed in proximal tubular cells of the kidney.1 Publication

Gene expression databases

BgeeiENSG00000138463 Expressed in 197 organ(s), highest expression level in placenta
CleanExiHS_DIRC2
ExpressionAtlasiQ96SL1 baseline and differential
GenevisibleiQ96SL1 HS

Organism-specific databases

HPAiHPA072579

Interactioni

Protein-protein interaction databases

BioGridi124360, 1 interactor
IntActiQ96SL1, 2 interactors
MINTiQ96SL1
STRINGi9606.ENSP00000261038

Structurei

3D structure databases

ProteinModelPortaliQ96SL1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi14 – 15Mediates lysosomal localization2

Sequence similaritiesi

Belongs to the major facilitator superfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2563 Eukaryota
ENOG410XSTK LUCA
GeneTreeiENSGT00530000062892
HOGENOMiHOG000294083
HOVERGENiHBG060348
InParanoidiQ96SL1
KOiK15381
OMAiWFSPDER
OrthoDBiEOG091G0LKL
PhylomeDBiQ96SL1
TreeFamiTF314292

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
SUPFAMiSSF103473 SSF103473, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96SL1-1) [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
MGSRWSSEEE RQPLLGPGLG PGLGASWRSR EAAAAALPAA VPGPGRVYGR
60 70 80 90 100
RWLVLLLFSL LAFVQGLVWN TWGPIQNSAR QAYGFSSWDI ALLVLWGPIG
110 120 130 140 150
FLPCFAFMWL LDKRGLRITV LLTSFLMVLG TGLRCIPISD LILKRRLIHG
160 170 180 190 200
GQMLNGLAGP TVMNAAPFLS TTWFSADERA TATAIASMLS YLGGACAFLV
210 220 230 240 250
GPLVVPAPNG TSPLLAAESS RAHIKDRIEA VLYAEFGVVC LIFSATLAYF
260 270 280 290 300
PPRPPLPPSV AAASQRLSYR RSVCRLLSNF RFLMIALAYA IPLGVFAGWS
310 320 330 340 350
GVLDLILTPA HVSQVDAGWI GFWSIVGGCV VGIAMARFAD FIRGMLKLIL
360 370 380 390 400
LLLFSGATLS STWFTLTCLN SITHLPLTTV TLYASCILLG VFLNSSVPIF
410 420 430 440 450
FELFVETVYP VPEGITCGVV TFLSNMFMGV LLFFLTFYHT ELSWFNWCLP
460 470
GSCLLSLLLI LCFRESYDRL YLDVVVSV
Length:478
Mass (Da):52,088
Last modified:December 1, 2001 - v1
Checksum:iB752B98647711B89
GO
Isoform 2 (identifier: Q96SL1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     380-411: VTLYASCILLGVFLNSSVPIFFELFVETVYPV → EMGFRHVVQAGLELLSLSDSPTLASQNVGIAD
     412-478: Missing.

Note: No experimental confirmation available.
Show »
Length:411
Mass (Da):44,146
Checksum:i79709AEBBBA7E31A
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q05BS2Q05BS2_HUMAN
DIRC2 protein
DIRC2
115Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022302380 – 411VTLYA…TVYPV → EMGFRHVVQAGLELLSLSDS PTLASQNVGIAD in isoform 2. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_022303412 – 478Missing in isoform 2. 1 PublicationAdd BLAST67

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027690 mRNA Translation: BAB55300.1
AK075158 mRNA Translation: BAC11440.1
AK291176 mRNA Translation: BAF83865.1
CH471052 Genomic DNA Translation: EAW79462.1
BC039821 mRNA Translation: AAH39821.1
CCDSiCCDS3018.1 [Q96SL1-1]
RefSeqiNP_116228.1, NM_032839.2 [Q96SL1-1]
UniGeneiHs.477346

Genome annotation databases

EnsembliENST00000261038; ENSP00000261038; ENSG00000138463 [Q96SL1-1]
GeneIDi84925
KEGGihsa:84925
UCSCiuc003efw.5 human [Q96SL1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027690 mRNA Translation: BAB55300.1
AK075158 mRNA Translation: BAC11440.1
AK291176 mRNA Translation: BAF83865.1
CH471052 Genomic DNA Translation: EAW79462.1
BC039821 mRNA Translation: AAH39821.1
CCDSiCCDS3018.1 [Q96SL1-1]
RefSeqiNP_116228.1, NM_032839.2 [Q96SL1-1]
UniGeneiHs.477346

3D structure databases

ProteinModelPortaliQ96SL1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124360, 1 interactor
IntActiQ96SL1, 2 interactors
MINTiQ96SL1
STRINGi9606.ENSP00000261038

Protein family/group databases

TCDBi2.A.1.28.6 the major facilitator superfamily (mfs)

PTM databases

iPTMnetiQ96SL1
PhosphoSitePlusiQ96SL1

Polymorphism and mutation databases

BioMutaiDIRC2
DMDMi74732717

Proteomic databases

EPDiQ96SL1
MaxQBiQ96SL1
PaxDbiQ96SL1
PeptideAtlasiQ96SL1
PRIDEiQ96SL1
ProteomicsDBi78124
78125 [Q96SL1-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261038; ENSP00000261038; ENSG00000138463 [Q96SL1-1]
GeneIDi84925
KEGGihsa:84925
UCSCiuc003efw.5 human [Q96SL1-1]

Organism-specific databases

CTDi84925
DisGeNETi84925
EuPathDBiHostDB:ENSG00000138463.8
GeneCardsiDIRC2
H-InvDBiHIX0030821
HGNCiHGNC:16628 DIRC2
HPAiHPA072579
MalaCardsiDIRC2
MIMi602773 gene
neXtProtiNX_Q96SL1
OpenTargetsiENSG00000138463
Orphaneti422526 Hereditary clear cell renal cell carcinoma
PharmGKBiPA27341
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2563 Eukaryota
ENOG410XSTK LUCA
GeneTreeiENSGT00530000062892
HOGENOMiHOG000294083
HOVERGENiHBG060348
InParanoidiQ96SL1
KOiK15381
OMAiWFSPDER
OrthoDBiEOG091G0LKL
PhylomeDBiQ96SL1
TreeFamiTF314292

Miscellaneous databases

ChiTaRSiDIRC2 human
GenomeRNAii84925
PROiPR:Q96SL1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138463 Expressed in 197 organ(s), highest expression level in placenta
CleanExiHS_DIRC2
ExpressionAtlasiQ96SL1 baseline and differential
GenevisibleiQ96SL1 HS

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
SUPFAMiSSF103473 SSF103473, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDIRC2_HUMAN
AccessioniPrimary (citable) accession number: Q96SL1
Secondary accession number(s): A8K561, Q8NBX9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 122 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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