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Protein

Disrupted in renal carcinoma protein 2

Gene

DIRC2

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

Functioni

Electrogenic metabolite transporter.1 Publication

GO - Biological processi

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.

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.
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

MaxQBiQ96SL1.
PaxDbiQ96SL1.
PeptideAtlasiQ96SL1.
PRIDEiQ96SL1.

PTM databases

iPTMnetiQ96SL1.
PhosphoSitePlusiQ96SL1.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000138463.
CleanExiHS_DIRC2.
ExpressionAtlasiQ96SL1. baseline and differential.
GenevisibleiQ96SL1. HS.

Organism-specific databases

HPAiHPA072579.

Interactioni

Protein-protein interaction databases

BioGridi124360. 1 interactor.
IntActiQ96SL1. 2 interactors.
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.
OMAiLRCIPVS.
OrthoDBiEOG091G0LKL.
PhylomeDBiQ96SL1.
TreeFamiTF314292.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiView protein in InterPro
IPR020846. MFS_dom.
SUPFAMiSSF103473. SSF103473. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

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

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

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: September 27, 2017
This is version 115 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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families