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Protein

FERM and PDZ domain-containing protein 2

Gene

FRMPD2

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

Functioni

May play a role in the regulation of tight junction formation. Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2).1 Publication

GO - Molecular functioni

  • 1-phosphatidylinositol binding Source: UniProtKB

GO - Biological processi

  • bicellular tight junction assembly Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
FERM and PDZ domain-containing protein 2
Alternative name(s):
PDZ domain-containing protein 4
PDZ domain-containing protein 5C
Gene namesi
Name:FRMPD2
Synonyms:PDZD5C, PDZK4, PDZK5C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:28572. FRMPD2.

Subcellular locationi

  • Cytoplasm Curated
  • Basolateral cell membrane 1 Publication
  • Cell junctiontight junction 1 Publication

  • 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.

GO - Cellular componenti

  • basolateral plasma membrane Source: UniProtKB
  • bicellular tight junction Source: UniProtKB
  • cytoplasm Source: UniProtKB-SubCell
  • cytoskeleton Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Tight junction

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi955 – 9551K → E: Abolishes the basolateral membrane localization. 1 Publication

Organism-specific databases

PharmGKBiPA134947461.

Polymorphism and mutation databases

BioMutaiFRMPD2.
DMDMi334302902.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13091309FERM and PDZ domain-containing protein 2PRO_0000306854Add
BLAST

Proteomic databases

PaxDbiQ68DX3.
PeptideAtlasiQ68DX3.
PRIDEiQ68DX3.

PTM databases

iPTMnetiQ68DX3.
PhosphoSiteiQ68DX3.

Expressioni

Tissue specificityi

Expressed in epithelial cells.1 Publication

Gene expression databases

BgeeiENSG00000170324.
CleanExiHS_FRMPD2.
GenevisibleiQ68DX3. HS.

Organism-specific databases

HPAiHPA045059.

Interactioni

Subunit structurei

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).1 Publication

Protein-protein interaction databases

BioGridi126788. 2 interactions.
STRINGi9606.ENSP00000363317.

Structurei

3D structure databases

ProteinModelPortaliQ68DX3.
SMRiQ68DX3. Positions 17-64, 371-637, 774-857, 917-1166.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini15 – 197183KINDPROSITE-ProRule annotationAdd
BLAST
Domaini342 – 642301FERMPROSITE-ProRule annotationAdd
BLAST
Domaini775 – 86187PDZ 1PROSITE-ProRule annotationAdd
BLAST
Domaini950 – 103586PDZ 2PROSITE-ProRule annotationAdd
BLAST
Domaini1079 – 116789PDZ 3PROSITE-ProRule annotationAdd
BLAST

Domaini

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 similaritiesi

Contains 1 FERM domain.PROSITE-ProRule annotation
Contains 1 KIND domain.PROSITE-ProRule annotation
Contains 3 PDZ (DHR) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0792. Eukaryota.
KOG3528. Eukaryota.
ENOG4111KTB. LUCA.
GeneTreeiENSGT00830000128259.
HOVERGENiHBG105760.
InParanoidiQ68DX3.
OMAiYSVCDIR.
OrthoDBiEOG091G0BZR.
PhylomeDBiQ68DX3.
TreeFamiTF315388.

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
2.30.42.10. 3 hits.
InterProiIPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR018979. FERM_N.
IPR018980. FERM_PH-like_C.
IPR029906. FRMPD2.
IPR011019. KIND_dom.
IPR001478. PDZ.
IPR011993. PH_dom-like.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PANTHERiPTHR19964:SF42. PTHR19964:SF42. 3 hits.
PfamiPF09380. FERM_C. 1 hit.
PF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
PF00595. PDZ. 3 hits.
[Graphical view]
PRINTSiPR00935. BAND41.
SMARTiSM00295. B41. 1 hit.
SM01196. FERM_C. 1 hit.
SM00750. KIND. 1 hit.
SM00228. PDZ. 3 hits.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50156. SSF50156. 3 hits.
SSF50729. SSF50729. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiPS50057. FERM_3. 1 hit.
PS51377. KIND. 1 hit.
PS50106. PDZ. 3 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q68DX3-1) [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
MQPLTKDAGM SLSSVTLASA LQVRGEALSE EEIWSLLFLA AEQLLEDLRN
60 70 80 90 100
DSSDYVVCPW SALLSAAGSL SFQGRVSHIE AAPFKAPELL QGQSEDEQPD
110 120 130 140 150
ASQMHVYSLG MTLYWSAGFH VPPHQPLQLC EPLHSILLTM CEDQPHRRCT
160 170 180 190 200
LQSVLEACRV HEKEVSVYPA PAGLHIRRLV GLVLGTISEV EKRVVEESSS
210 220 230 240 250
VQQNRSYLLR KRLRGTSSES PAAQAPECLH PCRVSERSTE TQSSPEPHWS
260 270 280 290 300
TLTHSHCSLL VNRALPGADP QDQQAGRRLS SGSVHSAADS SWPTTPSQRG
310 320 330 340 350
FLQRRSKFSR PEFILLAGEA PMTLHLPGSV VTKKGKSYLA LRDLCVVLLN
360 370 380 390 400
GQHLEVKCDV ESTVGAVFNA VTSFANLEEL TYFGLAYMKS KEFFFLDSET
410 420 430 440 450
RLCKIAPEGW REQPQKTSMN TFTLFLRIKF FVSHYGLLQH SLTRHQFYLQ
460 470 480 490 500
LRKDILEERL YCNEEILLQL GVLALQAEFG NYPKEQVESK PYFHVEDYIP
510 520 530 540 550
ASLIERMTAL RVQVEVSEMH RLSSALWGED AELKFLRVTQ QLPEYGVLVH
560 570 580 590 600
QVFSEKRRPE EEMALGICAK GVIVYEVKNN SRIAMLRFQW RETGKISTYQ
610 620 630 640 650
KKFTITSSVT GKKHTFVTDS AKTSKYLLDL CSAQHGFNAQ MGSGQPSHVL
660 670 680 690 700
FDHDKFVQMA NLSPAHQARS KPLIWIQRLS CSENELFVSR LQGAAGGLLS
710 720 730 740 750
TSMDNFNVDG SKEAGAEGIG RSPCTGREQL KSACVIQKPM TWDSLSGPPV
760 770 780 790 800
QSMHAGSKNN RRKSFIAEPG REIVRVTLKR DPHRGFGFVI NEGEYSGQAD
810 820 830 840 850
PGIFISSIIP GGPAEKAKTI KPGGQILALN HISLEGFTFN MAVRMIQNSP
860 870 880 890 900
DNIELIISQS KGVGGNNPDE EKNSTANSGV SSTDILSFGY QGSLLSHTQD
910 920 930 940 950
QDRNTEELDM AGVQSLVPRL RHQLSFLPLK GAGSSCPPSP PEISAGEIYF
960 970 980 990 1000
VELVKEDGTL GFSVTGGINT SVPYGGIYVK SIVPGGPAAK EGQILQGDRL
1010 1020 1030 1040 1050
LQVDGVILCG LTHKQAVQCL TGPGQVARLV LERRVPRSTQ QCPSANDSMG
1060 1070 1080 1090 1100
DERTAVSLVT ALPGRPSSCV SVTDGPKFEV KLKKNANGLG FSFVQMEKES
1110 1120 1130 1140 1150
CSHLKSDLVR IKRLFPGQPA EENGAIAAGD IILAVNGRST EGLIFQEVLH
1160 1170 1180 1190 1200
LLRGAPQEVT LLLCRPPPGA LPELEQEWQT PELSADKEFT RATCTDSCTS
1210 1220 1230 1240 1250
PILDQEDSWR DSASPDAGEG LGLRPESSQK AIREAQWGQN RERPWASSLT
1260 1270 1280 1290 1300
HSPESHPHLC KLHQERDEST LATSLEKDVR QNCYSVCDIM RLGRYSFSSP

LTRLSTDIF
Length:1,309
Mass (Da):144,282
Last modified:May 31, 2011 - v3
Checksum:i7684E687FA8522B4
GO
Isoform 2 (identifier: Q68DX3-2) [UniParc]FASTAAdd to basket

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.
Show »
Length:1,284
Mass (Da):141,455
Checksum:i89E7F9A7D011CD97
GO
Isoform 3 (identifier: Q68DX3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     391-392: KE → GE
     393-1309: Missing.

Note: No experimental confirmation available.
Show »
Length:392
Mass (Da):43,008
Checksum:iBA3B4B1C4C0FCC79
GO
Isoform 4 (identifier: Q68DX3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-989: Missing.
     990-996: KEGQILQ → MTSIPFP

Show »
Length:320
Mass (Da):35,116
Checksum:i518D2626AB9BA09A
GO
Isoform 5 (identifier: Q68DX3-5) [UniParc]FASTAAdd to basket

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

Show »
Length:261
Mass (Da):28,774
Checksum:iC1B27BB4D815028A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti601 – 6011K → E in CAH18097 (PubMed:17974005).Curated
Sequence conflicti624 – 6241S → G in CAH18097 (PubMed:17974005).Curated
Sequence conflicti826 – 8261I → T in CAH18097 (PubMed:17974005).Curated
Sequence conflicti874 – 8741S → G in BAC85520 (PubMed:14702039).Curated
Sequence conflicti895 – 8951L → S in BAC85520 (PubMed:14702039).Curated
Sequence conflicti969 – 9691N → M in AAH73954 (PubMed:15489334).Curated
Sequence conflicti969 – 9691N → M in AAI44636 (PubMed:15489334).Curated
Sequence conflicti969 – 9691N → M in AAI44640 (PubMed:15489334).Curated
Sequence conflicti1077 – 10771K → N in AAS79660 (Ref. 1) Curated
Sequence conflicti1174 – 11741L → M in BAC85520 (PubMed:14702039).Curated
Sequence conflicti1214 – 12141S → F in AAS79660 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201A → T.
Corresponds to variant rs11101272 [ dbSNP | Ensembl ].
VAR_055540
Natural varianti239 – 2391T → M.
Corresponds to variant rs55802136 [ dbSNP | Ensembl ].
VAR_061034
Natural varianti351 – 3511G → R.1 Publication
Corresponds to variant rs116143480 [ dbSNP | Ensembl ].
VAR_072402
Natural varianti534 – 5341K → E.1 Publication
Corresponds to variant rs1864345 [ dbSNP | Ensembl ].
VAR_055541
Natural varianti727 – 7271R → W in a colorectal cancer sample; somatic mutation. 1 Publication
Corresponds to variant rs115907611 [ dbSNP | Ensembl ].
VAR_035446
Natural varianti1021 – 10211T → K.2 Publications
Corresponds to variant rs1898784 [ dbSNP | Ensembl ].
VAR_065253

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 10481048Missing in isoform 5. 2 PublicationsVSP_028521Add
BLAST
Alternative sequencei1 – 989989Missing in isoform 4. 1 PublicationVSP_028522Add
BLAST
Alternative sequencei1 – 88MQPLTKDA → MHVFIV in isoform 2. 1 PublicationVSP_028523
Alternative sequencei103 – 12422Missing in isoform 2. 1 PublicationVSP_028524Add
BLAST
Alternative sequencei391 – 3922KE → GE in isoform 3. 1 PublicationVSP_028525
Alternative sequencei393 – 1309917Missing in isoform 3. 1 PublicationVSP_028526Add
BLAST
Alternative sequencei486 – 4861Missing in isoform 2. 1 PublicationVSP_028527
Alternative sequencei990 – 9967KEGQILQ → MTSIPFP in isoform 4. 1 PublicationVSP_028528

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS31195.1. [Q68DX3-1]
RefSeqiNP_001018081.3. NM_001018071.3.
NP_001035977.2. NM_001042512.2.
NP_001305120.1. NM_001318191.1.
UniGeneiHs.664786.
Hs.709611.

Genome annotation databases

EnsembliENST00000305531; ENSP00000307079; ENSG00000170324. [Q68DX3-2]
ENST00000374201; ENSP00000363317; ENSG00000170324. [Q68DX3-1]
ENST00000474573; ENSP00000422446; ENSG00000170324. [Q68DX3-5]
GeneIDi143162.
KEGGihsa:143162.
UCSCiuc001jgg.5. human. [Q68DX3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS31195.1. [Q68DX3-1]
RefSeqiNP_001018081.3. NM_001018071.3.
NP_001035977.2. NM_001042512.2.
NP_001305120.1. NM_001318191.1.
UniGeneiHs.664786.
Hs.709611.

3D structure databases

ProteinModelPortaliQ68DX3.
SMRiQ68DX3. Positions 17-64, 371-637, 774-857, 917-1166.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126788. 2 interactions.
STRINGi9606.ENSP00000363317.

PTM databases

iPTMnetiQ68DX3.
PhosphoSiteiQ68DX3.

Polymorphism and mutation databases

BioMutaiFRMPD2.
DMDMi334302902.

Proteomic databases

PaxDbiQ68DX3.
PeptideAtlasiQ68DX3.
PRIDEiQ68DX3.

Protocols and materials databases

DNASUi143162.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000305531; ENSP00000307079; ENSG00000170324. [Q68DX3-2]
ENST00000374201; ENSP00000363317; ENSG00000170324. [Q68DX3-1]
ENST00000474573; ENSP00000422446; ENSG00000170324. [Q68DX3-5]
GeneIDi143162.
KEGGihsa:143162.
UCSCiuc001jgg.5. human. [Q68DX3-1]

Organism-specific databases

CTDi143162.
GeneCardsiFRMPD2.
H-InvDBHIX0008804.
HIX0035409.
HIX0035410.
HGNCiHGNC:28572. FRMPD2.
HPAiHPA045059.
MIMi613323. gene.
neXtProtiNX_Q68DX3.
PharmGKBiPA134947461.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0792. Eukaryota.
KOG3528. Eukaryota.
ENOG4111KTB. LUCA.
GeneTreeiENSGT00830000128259.
HOVERGENiHBG105760.
InParanoidiQ68DX3.
OMAiYSVCDIR.
OrthoDBiEOG091G0BZR.
PhylomeDBiQ68DX3.
TreeFamiTF315388.

Miscellaneous databases

GenomeRNAii143162.
PROiQ68DX3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170324.
CleanExiHS_FRMPD2.
GenevisibleiQ68DX3. HS.

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
2.30.42.10. 3 hits.
InterProiIPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR018979. FERM_N.
IPR018980. FERM_PH-like_C.
IPR029906. FRMPD2.
IPR011019. KIND_dom.
IPR001478. PDZ.
IPR011993. PH_dom-like.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PANTHERiPTHR19964:SF42. PTHR19964:SF42. 3 hits.
PfamiPF09380. FERM_C. 1 hit.
PF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
PF00595. PDZ. 3 hits.
[Graphical view]
PRINTSiPR00935. BAND41.
SMARTiSM00295. B41. 1 hit.
SM01196. FERM_C. 1 hit.
SM00750. KIND. 1 hit.
SM00228. PDZ. 3 hits.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50156. SSF50156. 3 hits.
SSF50729. SSF50729. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiPS50057. FERM_3. 1 hit.
PS51377. KIND. 1 hit.
PS50106. PDZ. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFRPD2_HUMAN
AccessioniPrimary (citable) accession number: Q68DX3
Secondary accession number(s): B7WNW0
, B7ZML5, Q2VY07, Q6GMQ9, Q6ZN38, Q6ZWI2, Q8N5T9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: May 31, 2011
Last modified: September 7, 2016
This is version 122 of the entry and version 3 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.