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Protein

FERM and PDZ domain-containing protein 2

Gene

FRMPD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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

EuPathDBiHostDB:ENSG00000170324.19
HGNCiHGNC:28572 FRMPD2
MIMi613323 gene
neXtProtiNX_Q68DX3

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

Keywords - Cellular componenti

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

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi955K → E: Abolishes the basolateral membrane localization. 1 Publication1

Organism-specific databases

DisGeNETi143162
OpenTargetsiENSG00000170324
PharmGKBiPA134947461

Polymorphism and mutation databases

BioMutaiFRMPD2
DMDMi334302902

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003068541 – 1309FERM and PDZ domain-containing protein 2Add BLAST1309

Proteomic databases

PaxDbiQ68DX3
PeptideAtlasiQ68DX3
PRIDEiQ68DX3
ProteomicsDBi66110
66111 [Q68DX3-2]
66112 [Q68DX3-3]
66113 [Q68DX3-4]
66114 [Q68DX3-5]

PTM databases

iPTMnetiQ68DX3
PhosphoSitePlusiQ68DX3

Expressioni

Tissue specificityi

Expressed in epithelial cells.1 Publication

Gene expression databases

BgeeiENSG00000170324 Expressed in 77 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_FRMPD2
ExpressionAtlasiQ68DX3 baseline and differential
GenevisibleiQ68DX3 HS

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, 3 interactors
STRINGi9606.ENSP00000363317

Structurei

3D structure databases

ProteinModelPortaliQ68DX3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini15 – 197KINDPROSITE-ProRule annotationAdd BLAST183
Domaini342 – 642FERMPROSITE-ProRule annotationAdd BLAST301
Domaini775 – 861PDZ 1PROSITE-ProRule annotationAdd BLAST87
Domaini950 – 1035PDZ 2PROSITE-ProRule annotationAdd BLAST86
Domaini1079 – 1167PDZ 3PROSITE-ProRule annotationAdd BLAST89

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.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0792 Eukaryota
KOG3528 Eukaryota
ENOG4111KTB LUCA
GeneTreeiENSGT00920000148995
HOVERGENiHBG105760
InParanoidiQ68DX3
OrthoDBiEOG091G0BZR
PhylomeDBiQ68DX3
TreeFamiTF315388

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
Gene3Di1.20.80.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR019749 Band_41_domain
IPR014352 FERM/acyl-CoA-bd_prot_sf
IPR035963 FERM_2
IPR019748 FERM_central
IPR000299 FERM_domain
IPR018979 FERM_N
IPR018980 FERM_PH-like_C
IPR029906 FRMPD2
IPR011019 KIND_dom
IPR001478 PDZ
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR029071 Ubiquitin-like_domsf
PANTHERiPTHR19964:SF56 PTHR19964:SF56, 1 hit
PfamiView protein in Pfam
PF09380 FERM_C, 1 hit
PF00373 FERM_M, 1 hit
PF09379 FERM_N, 1 hit
PF00595 PDZ, 3 hits
PRINTSiPR00935 BAND41
SMARTiView protein in SMART
SM00295 B41, 1 hit
SM01196 FERM_C, 1 hit
SM00750 KIND, 1 hit
SM00228 PDZ, 3 hits
SUPFAMiSSF47031 SSF47031, 1 hit
SSF50156 SSF50156, 3 hits
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS50057 FERM_3, 1 hit
PS51377 KIND, 1 hit
PS50106 PDZ, 3 hits

Sequences (5+)i

Sequence statusi: Complete.

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

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GUQ4A0A1B0GUQ4_HUMAN
FERM and PDZ domain-containing prot...
FRMPD2
1,397Annotation score:
A0A1B0GV40A0A1B0GV40_HUMAN
FERM and PDZ domain-containing prot...
FRMPD2
66Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti601K → E in CAH18097 (PubMed:17974005).Curated1
Sequence conflicti624S → G in CAH18097 (PubMed:17974005).Curated1
Sequence conflicti826I → T in CAH18097 (PubMed:17974005).Curated1
Sequence conflicti874S → G in BAC85520 (PubMed:14702039).Curated1
Sequence conflicti895L → S in BAC85520 (PubMed:14702039).Curated1
Sequence conflicti969N → M in AAH73954 (PubMed:15489334).Curated1
Sequence conflicti969N → M in AAI44636 (PubMed:15489334).Curated1
Sequence conflicti969N → M in AAI44640 (PubMed:15489334).Curated1
Sequence conflicti1077K → N in AAS79660 (Ref. 1) Curated1
Sequence conflicti1174L → M in BAC85520 (PubMed:14702039).Curated1
Sequence conflicti1214S → F in AAS79660 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05554020A → T. Corresponds to variant dbSNP:rs11101272Ensembl.1
Natural variantiVAR_061034239T → M. Corresponds to variant dbSNP:rs55802136Ensembl.1
Natural variantiVAR_072402351G → R1 PublicationCorresponds to variant dbSNP:rs116143480Ensembl.1
Natural variantiVAR_055541534K → E1 PublicationCorresponds to variant dbSNP:rs1864345Ensembl.1
Natural variantiVAR_035446727R → W in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs115907611Ensembl.1
Natural variantiVAR_0652531021T → K2 PublicationsCorresponds to variant dbSNP:rs1898784Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0285211 – 1048Missing in isoform 5. 2 PublicationsAdd BLAST1048
Alternative sequenceiVSP_0285221 – 989Missing in isoform 4. 1 PublicationAdd BLAST989
Alternative sequenceiVSP_0285231 – 8MQPLTKDA → MHVFIV in isoform 2. 1 Publication8
Alternative sequenceiVSP_028524103 – 124Missing in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_028525391 – 392KE → GE in isoform 3. 1 Publication2
Alternative sequenceiVSP_028526393 – 1309Missing in isoform 3. 1 PublicationAdd BLAST917
Alternative sequenceiVSP_028527486Missing in isoform 2. 1 Publication1
Alternative sequenceiVSP_028528990 – 996KEGQILQ → MTSIPFP in isoform 4. 1 Publication7

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]
CCDS81460.1 [Q68DX3-2]
RefSeqiNP_001018081.3, NM_001018071.3
NP_001035977.2, NM_001042512.2
NP_001305120.1, NM_001318191.1
XP_016871233.1, XM_017015744.1 [Q68DX3-5]
UniGeneiHs.664786
Hs.709611

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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]
CCDS81460.1 [Q68DX3-2]
RefSeqiNP_001018081.3, NM_001018071.3
NP_001035977.2, NM_001042512.2
NP_001305120.1, NM_001318191.1
XP_016871233.1, XM_017015744.1 [Q68DX3-5]
UniGeneiHs.664786
Hs.709611

3D structure databases

ProteinModelPortaliQ68DX3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126788, 3 interactors
STRINGi9606.ENSP00000363317

PTM databases

iPTMnetiQ68DX3
PhosphoSitePlusiQ68DX3

Polymorphism and mutation databases

BioMutaiFRMPD2
DMDMi334302902

Proteomic databases

PaxDbiQ68DX3
PeptideAtlasiQ68DX3
PRIDEiQ68DX3
ProteomicsDBi66110
66111 [Q68DX3-2]
66112 [Q68DX3-3]
66113 [Q68DX3-4]
66114 [Q68DX3-5]

Protocols and materials databases

DNASUi143162
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi143162
DisGeNETi143162
EuPathDBiHostDB:ENSG00000170324.19
GeneCardsiFRMPD2
H-InvDBiHIX0008804
HIX0035409
HIX0035410
HGNCiHGNC:28572 FRMPD2
MIMi613323 gene
neXtProtiNX_Q68DX3
OpenTargetsiENSG00000170324
PharmGKBiPA134947461
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0792 Eukaryota
KOG3528 Eukaryota
ENOG4111KTB LUCA
GeneTreeiENSGT00920000148995
HOVERGENiHBG105760
InParanoidiQ68DX3
OrthoDBiEOG091G0BZR
PhylomeDBiQ68DX3
TreeFamiTF315388

Miscellaneous databases

GenomeRNAii143162
PROiPR:Q68DX3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170324 Expressed in 77 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_FRMPD2
ExpressionAtlasiQ68DX3 baseline and differential
GenevisibleiQ68DX3 HS

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
Gene3Di1.20.80.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR019749 Band_41_domain
IPR014352 FERM/acyl-CoA-bd_prot_sf
IPR035963 FERM_2
IPR019748 FERM_central
IPR000299 FERM_domain
IPR018979 FERM_N
IPR018980 FERM_PH-like_C
IPR029906 FRMPD2
IPR011019 KIND_dom
IPR001478 PDZ
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR029071 Ubiquitin-like_domsf
PANTHERiPTHR19964:SF56 PTHR19964:SF56, 1 hit
PfamiView protein in Pfam
PF09380 FERM_C, 1 hit
PF00373 FERM_M, 1 hit
PF09379 FERM_N, 1 hit
PF00595 PDZ, 3 hits
PRINTSiPR00935 BAND41
SMARTiView protein in SMART
SM00295 B41, 1 hit
SM01196 FERM_C, 1 hit
SM00750 KIND, 1 hit
SM00228 PDZ, 3 hits
SUPFAMiSSF47031 SSF47031, 1 hit
SSF50156 SSF50156, 3 hits
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS50057 FERM_3, 1 hit
PS51377 KIND, 1 hit
PS50106 PDZ, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiFRPD2_HUMAN
AccessioniPrimary (citable) accession number: Q68DX3
Secondary accession number(s): B7WNW0
, B7ZML5, Q2VY07, Q6GMQ9, Q6ZN38, Q6ZWI2, Q8N5T9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: May 31, 2011
Last modified: September 12, 2018
This is version 140 of the entry and version 3 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 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
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