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Q68DX3 (FRPD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 98. 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:
FERM and PDZ domain-containing protein 2
Alternative name(s):
PDZ domain-containing protein 4
PDZ domain-containing protein 5C
Gene names
Name:FRMPD2
Synonyms:PDZD5C, PDZK4, PDZK5C
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1309 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in the regulation of tight junction formation. Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2). Ref.6

Subunit structure

Interacts (via the PDZ 2 domain) with CTNND2 (via the extreme C-terminus). Interacts (via the PDZ 2 domain) with PKP4 (via the extreme C-terminus); this interaction directed FRMPD2 to the basolateral membranes. Interacts (via the PDZ 2 domain) with ARVCF (via the extreme C-terminus). Ref.6

Subcellular location

Cytoplasm Potential. Basolateral cell membrane. Cell junctiontight junction. Note: Colocalizes with CTNNB1, CDH1 and PKP4 at the basolateral membrane. Colocalizes with TJP1 at tight junctions. Its recruitment to cell-cell contacts requires CDH1. Ref.6

Tissue specificity

Expressed in epithelial cells. Ref.6

Domain

The FERM and PDZ 2 domains are necessary for localization to the basolateral cell membrane. The FERM domain binds to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and is sufficient for membrane localization.

Sequence similarities

Contains 1 FERM domain.

Contains 1 KIND domain.

Contains 3 PDZ (DHR) domains.

Ontologies

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q68DX3-1)

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: Q68DX3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MQPLTKDA → MHVFIV
     103-124: Missing.
     486-486: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q68DX3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     391-392: KE → GE
     393-1309: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q68DX3-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-989: Missing.
     990-996: KEGQILQ → MTSIPFP
Isoform 5 (identifier: Q68DX3-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1048: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13091309FERM and PDZ domain-containing protein 2
PRO_0000306854

Regions

Domain15 – 197183KIND
Domain342 – 642301FERM
Domain775 – 86187PDZ 1
Domain950 – 103586PDZ 2
Domain1079 – 116789PDZ 3

Natural variations

Alternative sequence1 – 10481048Missing in isoform 5.
VSP_028521
Alternative sequence1 – 989989Missing in isoform 4.
VSP_028522
Alternative sequence1 – 88MQPLTKDA → MHVFIV in isoform 2.
VSP_028523
Alternative sequence103 – 12422Missing in isoform 2.
VSP_028524
Alternative sequence391 – 3922KE → GE in isoform 3.
VSP_028525
Alternative sequence393 – 1309917Missing in isoform 3.
VSP_028526
Alternative sequence4861Missing in isoform 2.
VSP_028527
Alternative sequence990 – 9967KEGQILQ → MTSIPFP in isoform 4.
VSP_028528
Natural variant201A → T.
Corresponds to variant rs11101272 [ dbSNP | Ensembl ].
VAR_055540
Natural variant2391T → M.
Corresponds to variant rs55802136 [ dbSNP | Ensembl ].
VAR_061034
Natural variant5341K → E. Ref.2
Corresponds to variant rs1864345 [ dbSNP | Ensembl ].
VAR_055541
Natural variant7271R → W in a colorectal cancer sample; somatic mutation. Ref.7
VAR_035446
Natural variant10211T → K. Ref.2 Ref.3
Corresponds to variant rs1898784 [ dbSNP | Ensembl ].
VAR_065253

Experimental info

Mutagenesis9551K → E: Abolishes the basolateral membrane localization. Ref.6
Sequence conflict6011K → E in CAH18097. Ref.3
Sequence conflict6241S → G in CAH18097. Ref.3
Sequence conflict8261I → T in CAH18097. Ref.3
Sequence conflict8741S → G in BAC85520. Ref.2
Sequence conflict8951L → S in BAC85520. Ref.2
Sequence conflict9691N → M in AAH73954. Ref.5
Sequence conflict9691N → M in AAI44636. Ref.5
Sequence conflict9691N → M in AAI44640. Ref.5
Sequence conflict10771K → N in AAS79660. Ref.1
Sequence conflict11741L → M in BAC85520. Ref.2
Sequence conflict12141S → F in AAS79660. Ref.1

Sequences

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

Last modified May 31, 2011. Version 3.
Checksum: 7684E687FA8522B4

FASTA1,309144,282
        10         20         30         40         50         60 
MQPLTKDAGM SLSSVTLASA LQVRGEALSE EEIWSLLFLA AEQLLEDLRN DSSDYVVCPW 

        70         80         90        100        110        120 
SALLSAAGSL SFQGRVSHIE AAPFKAPELL QGQSEDEQPD ASQMHVYSLG MTLYWSAGFH 

       130        140        150        160        170        180 
VPPHQPLQLC EPLHSILLTM CEDQPHRRCT LQSVLEACRV HEKEVSVYPA PAGLHIRRLV 

       190        200        210        220        230        240 
GLVLGTISEV EKRVVEESSS VQQNRSYLLR KRLRGTSSES PAAQAPECLH PCRVSERSTE 

       250        260        270        280        290        300 
TQSSPEPHWS TLTHSHCSLL VNRALPGADP QDQQAGRRLS SGSVHSAADS SWPTTPSQRG 

       310        320        330        340        350        360 
FLQRRSKFSR PEFILLAGEA PMTLHLPGSV VTKKGKSYLA LRDLCVVLLN GQHLEVKCDV 

       370        380        390        400        410        420 
ESTVGAVFNA VTSFANLEEL TYFGLAYMKS KEFFFLDSET RLCKIAPEGW REQPQKTSMN 

       430        440        450        460        470        480 
TFTLFLRIKF FVSHYGLLQH SLTRHQFYLQ LRKDILEERL YCNEEILLQL GVLALQAEFG 

       490        500        510        520        530        540 
NYPKEQVESK PYFHVEDYIP ASLIERMTAL RVQVEVSEMH RLSSALWGED AELKFLRVTQ 

       550        560        570        580        590        600 
QLPEYGVLVH QVFSEKRRPE EEMALGICAK GVIVYEVKNN SRIAMLRFQW RETGKISTYQ 

       610        620        630        640        650        660 
KKFTITSSVT GKKHTFVTDS AKTSKYLLDL CSAQHGFNAQ MGSGQPSHVL FDHDKFVQMA 

       670        680        690        700        710        720 
NLSPAHQARS KPLIWIQRLS CSENELFVSR LQGAAGGLLS TSMDNFNVDG SKEAGAEGIG 

       730        740        750        760        770        780 
RSPCTGREQL KSACVIQKPM TWDSLSGPPV QSMHAGSKNN RRKSFIAEPG REIVRVTLKR 

       790        800        810        820        830        840 
DPHRGFGFVI NEGEYSGQAD PGIFISSIIP GGPAEKAKTI KPGGQILALN HISLEGFTFN 

       850        860        870        880        890        900 
MAVRMIQNSP DNIELIISQS KGVGGNNPDE EKNSTANSGV SSTDILSFGY QGSLLSHTQD 

       910        920        930        940        950        960 
QDRNTEELDM AGVQSLVPRL RHQLSFLPLK GAGSSCPPSP PEISAGEIYF VELVKEDGTL 

       970        980        990       1000       1010       1020 
GFSVTGGINT SVPYGGIYVK SIVPGGPAAK EGQILQGDRL LQVDGVILCG LTHKQAVQCL 

      1030       1040       1050       1060       1070       1080 
TGPGQVARLV LERRVPRSTQ QCPSANDSMG DERTAVSLVT ALPGRPSSCV SVTDGPKFEV 

      1090       1100       1110       1120       1130       1140 
KLKKNANGLG FSFVQMEKES CSHLKSDLVR IKRLFPGQPA EENGAIAAGD IILAVNGRST 

      1150       1160       1170       1180       1190       1200 
EGLIFQEVLH LLRGAPQEVT LLLCRPPPGA LPELEQEWQT PELSADKEFT RATCTDSCTS 

      1210       1220       1230       1240       1250       1260 
PILDQEDSWR DSASPDAGEG LGLRPESSQK AIREAQWGQN RERPWASSLT HSPESHPHLC 

      1270       1280       1290       1300 
KLHQERDEST LATSLEKDVR QNCYSVCDIM RLGRYSFSSP LTRLSTDIF 

« Hide

Isoform 2 [UniParc].

Checksum: 89E7F9A7D011CD97
Show »

FASTA1,284141,455
Isoform 3 [UniParc].

Checksum: BA3B4B1C4C0FCC79
Show »

FASTA39243,008
Isoform 4 [UniParc].

Checksum: 518D2626AB9BA09A
Show »

FASTA32035,116
Isoform 5 [UniParc].

Checksum: C1B27BB4D815028A
Show »

FASTA26128,774

References

« Hide 'large scale' references
[1]"Identification of a novel PDZ domain-containing gene."
Xu J., Xie Y., Mao Y.
Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5).
[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. 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] (ISOFORMS 2 AND 3), VARIANTS GLU-534 AND LYS-1021.
Tissue: Hippocampus and Teratocarcinoma.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LYS-1021.
Tissue: Retina.
[4]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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 4 AND 5).
Tissue: Brain.
[6]"PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells."
Stenzel N., Fetzer C.P., Heumann R., Erdmann K.S.
J. Cell Sci. 122:3374-3384(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH ARVCF; CTNND2 AND PKP4, MUTAGENESIS OF LYS-955, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-727.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY491519 mRNA. Translation: AAS79660.1.
AK123038 mRNA. Translation: BAC85520.1.
AK131386 mRNA. Translation: BAD18537.1.
CR749241 mRNA. Translation: CAH18097.1.
AC013284 Genomic DNA. No translation available.
AC074325 Genomic DNA. No translation available.
BC031614 mRNA. Translation: AAH31614.1.
BC073954 mRNA. Translation: AAH73954.1.
BC144635 mRNA. Translation: AAI44636.1.
BC144639 mRNA. Translation: AAI44640.1.
RefSeqNP_001018081.3. NM_001018071.3.
NP_001035977.2. NM_001042512.2.
UniGeneHs.664786.
Hs.709611.

3D structure databases

ProteinModelPortalQ68DX3.
SMRQ68DX3. Positions 354-637, 772-1166.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000363317.

PTM databases

PhosphoSiteQ68DX3.

Polymorphism databases

DMDM334302902.

Proteomic databases

PaxDbQ68DX3.
PRIDEQ68DX3.

Protocols and materials databases

DNASU143162.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000305531; ENSP00000307079; ENSG00000170324. [Q68DX3-2]
ENST00000374201; ENSP00000363317; ENSG00000170324. [Q68DX3-1]
ENST00000474573; ENSP00000422446; ENSG00000170324. [Q68DX3-5]
GeneID143162.
KEGGhsa:143162.
UCSCuc001jgg.3. human. [Q68DX3-5]
uc001jgi.3. human. [Q68DX3-1]

Organism-specific databases

CTD143162.
GeneCardsGC10M049364.
H-InvDBHIX0008804.
HIX0035409.
HIX0035410.
HGNCHGNC:28572. FRMPD2.
HPAHPA045059.
MIM613323. gene.
neXtProtNX_Q68DX3.
PharmGKBPA134947461.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG323402.
HOVERGENHBG105760.
InParanoidQ68DX3.
OMAMIQNSPD.
OrthoDBEOG7K9K22.
TreeFamTF315388.

Gene expression databases

BgeeQ68DX3.
CleanExHS_FRMPD2.
GenevestigatorQ68DX3.

Family and domain databases

Gene3D1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
2.30.42.10. 3 hits.
InterProIPR019749. Band_41_domain.
IPR019750. Band_41_fam.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR018979. FERM_N.
IPR018980. FERM_PH-like_C.
IPR011019. KIND.
IPR001478. PDZ.
IPR011993. PH_like_dom.
[Graphical view]
PfamPF09380. FERM_C. 1 hit.
PF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
PF00595. PDZ. 3 hits.
[Graphical view]
PRINTSPR00935. BAND41.
SMARTSM00295. B41. 1 hit.
SM00750. KIND. 1 hit.
SM00228. PDZ. 3 hits.
[Graphical view]
SUPFAMSSF47031. SSF47031. 1 hit.
SSF50156. SSF50156. 3 hits.
PROSITEPS50057. FERM_3. 1 hit.
PS51377. KIND. 1 hit.
PS50106. PDZ. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi143162.
NextBio84654.
PROQ68DX3.
SOURCESearch...

Entry information

Entry nameFRPD2_HUMAN
AccessionPrimary (citable) accession number: Q68DX3
Secondary accession number(s): B7WNW0 expand/collapse secondary AC list , B7ZML5, Q2VY07, Q6GMQ9, Q6ZN38, Q6ZWI2, Q8N5T9
Entry history
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: May 31, 2011
Last modified: April 16, 2014
This is version 98 of the entry and version 3 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM