Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q7Z6J4 (FGD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. 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:
FYVE, RhoGEF and PH domain-containing protein 2
Alternative name(s):
Zinc finger FYVE domain-containing protein 4
Gene names
Name:FGD2
Synonyms:ZFYVE4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length655 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Activates JNK1 via CDC42 but not RAC1. Binds to phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate By similarity.

Subcellular location

Cytoplasmcytoskeleton Probable. Cytoplasm By similarity. Nucleus By similarity. Early endosome By similarity. Early endosome membrane By similarity. Cell projectionruffle membrane By similarity. Note: Recruitment to the endosome and ruffle membrane requires the presence of phosphoinositides By similarity.

Domain

The FYVE-type zinc-finger is necessary for early endosome localization. Recruitment to endosomal membranes via this domain requires the presence of phosphatidylinositol 3-phosphate or other phosphatidylinositides By similarity.

The PH domain is necessary for localization to the ruffle membrane. Recruitment to ruffle membrane occurs through binding of phosphoinositides by the PH domain. This domain also contributes to the lipid-binding properties of the protein By similarity.

The DH domain is necessary for its ability to activate JNK1 via CDC42 By similarity.

Sequence similarities

Contains 1 DH (DBL-homology) domain.

Contains 1 FYVE-type zinc finger.

Contains 2 PH domains.

Sequence caution

The sequence BAB15746.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAC85129.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAC85129.1 differs from that shown. Reason: Frameshift at position 460.

The sequence CAI20471.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Cellular componentCell membrane
Cell projection
Cytoplasm
Cytoskeleton
Endosome
Membrane
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Zinc-finger
   LigandMetal-binding
Zinc
   Molecular functionGuanine-nucleotide releasing factor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactin cytoskeleton organization

Inferred from sequence or structural similarity. Source: UniProtKB

apoptotic signaling pathway

Traceable author statement. Source: Reactome

cytoskeleton organization

Inferred from sequence or structural similarity. Source: UniProtKB

filopodium assembly

Inferred from sequence or structural similarity. Source: UniProtKB

neurotrophin TRK receptor signaling pathway

Traceable author statement. Source: Reactome

positive regulation of apoptotic process

Traceable author statement. Source: Reactome

regulation of Cdc42 GTPase activity

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of cell shape

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of small GTPase mediated signal transduction

Traceable author statement. Source: Reactome

small GTPase mediated signal transduction

Traceable author statement. Source: Reactome

   Cellular_componentGolgi apparatus

Inferred from sequence or structural similarity. Source: UniProtKB

cytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

cytoskeleton

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytosol

Traceable author statement. Source: Reactome

early endosome membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

lamellipodium

Inferred from sequence or structural similarity. Source: UniProtKB

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

ruffle

Inferred from sequence or structural similarity. Source: UniProtKB

ruffle membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionRho guanyl-nucleotide exchange factor activity

Inferred from electronic annotation. Source: InterPro

guanyl-nucleotide exchange factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

small GTPase binding

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z6J4-1)

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: Q7Z6J4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-423: Missing.
     424-442: NETFKAAAQGPEGDIQEQE → MGGRRSPRAHSCPTPLNPQ
     585-655: DMRAHTSIPL...SWPNDGDLSD → VRPPPARPPSGPGLPTACV
Note: No experimental confirmation available.
Isoform 3 (identifier: Q7Z6J4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-372: Missing.
     488-655: VCARCSDYRA...SWPNDGDLSD → STPASTPASTCVTQASTCITQASTFPT
Note: No experimental confirmation available.
Isoform 4 (identifier: Q7Z6J4-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-22: MKGASEEKLASVSNLVTVFENS → MFPKKARHPGAPALGICTRQPKSTPGTCCCFPCSPGRKPSGLSLLL
     101-104: EPEK → VPEG
     105-655: Missing.
Note: May be due to an intron retention. No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 655655FYVE, RhoGEF and PH domain-containing protein 2
PRO_0000080942

Regions

Domain102 – 290189DH
Domain319 – 418100PH 1
Domain544 – 64198PH 2
Zinc finger458 – 51861FYVE-type

Natural variations

Alternative sequence1 – 423423Missing in isoform 2.
VSP_013065
Alternative sequence1 – 372372Missing in isoform 3.
VSP_013066
Alternative sequence1 – 2222MKGAS…VFENS → MFPKKARHPGAPALGICTRQ PKSTPGTCCCFPCSPGRKPS GLSLLL in isoform 4.
VSP_013067
Alternative sequence101 – 1044EPEK → VPEG in isoform 4.
VSP_013068
Alternative sequence105 – 655551Missing in isoform 4.
VSP_038219
Alternative sequence424 – 44219NETFK…IQEQE → MGGRRSPRAHSCPTPLNPQ in isoform 2.
VSP_013070
Alternative sequence488 – 655168VCARC…GDLSD → STPASTPASTCVTQASTCIT QASTFPT in isoform 3.
VSP_013071
Alternative sequence585 – 65571DMRAH…GDLSD → VRPPPARPPSGPGLPTACV in isoform 2.
VSP_013072
Natural variant321Q → H. Ref.4
Corresponds to variant rs831510 [ dbSNP | Ensembl ].
VAR_021491

Sequences

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

Last modified October 1, 2003. Version 1.
Checksum: DB60098249C2B340

FASTA65574,892
        10         20         30         40         50         60 
MKGASEEKLA SVSNLVTVFE NSRTPEAAPR GQRLEDVHHR PECRPPESPG PREKTNVGEA 

        70         80         90        100        110        120 
VGSEPRTVSR RYLNSLKNKL SSEAWRKSCQ PVTLSGSGTQ EPEKKIVQEL LETEQAYVAR 

       130        140        150        160        170        180 
LHLLDQVFFQ ELLKTARSSK AFPEDVVRVI FSNISSIYQF HSQFFLPELQ RRLDDWTANP 

       190        200        210        220        230        240 
RIGDVIQKLA PFLKMYSEYV KNFERAAELL ATWTDKSPLF QEVLTRIQSS EASGSLTLQH 

       250        260        270        280        290        300 
HMLEPVQRIP RYELLLKEYI QKLPAQAPDQ ADAQKALDMI FSAAQHSNAA ITEMERLQDL 

       310        320        330        340        350        360 
WEVYQRLGLE DDIVDPSNTL LREGPVLKIS FRRNDPMERY LFLFNNMLLY CVPRVIQVGA 

       370        380        390        400        410        420 
QFQVRTRIDV AGMKVRELMD AEFPHSFLVS GKQRTLELQA RSQEEMISWM QAFQAAIDQI 

       430        440        450        460        470        480 
EKRNETFKAA AQGPEGDIQE QELQSEELGL RAPQWVRDKM VTMCMRCQEP FNALTRRRHH 

       490        500        510        520        530        540 
CRACGYVVCA RCSDYRAELK YDDNRPNRVC LHCYAFLTGN VLPEAKEDKR RGILEKGSSA 

       550        560        570        580        590        600 
TPDQSLMCSF LQLIGDKWGK SGPRGWCVIP RDDPLVLYVY AAPQDMRAHT SIPLLGYQVT 

       610        620        630        640        650 
VGPQGDPRVF QLQQSGQLYT FKAETEELKG RWVKAMERAA SGWSPSWPND GDLSD 

« Hide

Isoform 2 [UniParc].

Checksum: 96FB2A2E1FE129C5
Show »

FASTA18020,193
Isoform 3 [UniParc].

Checksum: 3BC622A79372D3FA
Show »

FASTA14216,086
Isoform 4 [UniParc].

Checksum: B6EB12FF70E7A602
Show »

FASTA12813,825

References

[1]"Characterization of long cDNA clones from human adult spleen."
Hattori A., Okumura K., Nagase T., Kikuno R., Hirosawa M., Ohara O.
DNA Res. 7:357-366(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Spleen.
[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).
Tissue: Spleen.
[3]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] (ISOFORM 1), VARIANT HIS-32.
Tissue: Leukocyte and Lymph.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK024456 mRNA. Translation: BAB15746.1. Different initiation.
AK097230 mRNA. Translation: BAC04982.1.
AK131079 mRNA. Translation: BAC85129.1. Sequence problems.
AL160264 Genomic DNA. Translation: CAI20471.1. Sequence problems.
BC023645 mRNA. Translation: AAH23645.1.
BC053655 mRNA. Translation: AAH53655.1.
CCDSCCDS4829.1. [Q7Z6J4-1]
RefSeqNP_775829.2. NM_173558.3. [Q7Z6J4-1]
UniGeneHs.509664.

3D structure databases

ProteinModelPortalQ7Z6J4.
SMRQ7Z6J4. Positions 106-519, 566-639.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128730. 1 interaction.
STRING9606.ENSP00000274963.

PTM databases

PhosphoSiteQ7Z6J4.

Polymorphism databases

DMDM61213572.

Proteomic databases

MaxQBQ7Z6J4.
PaxDbQ7Z6J4.
PRIDEQ7Z6J4.

Protocols and materials databases

DNASU221472.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000274963; ENSP00000274963; ENSG00000146192. [Q7Z6J4-1]
GeneID221472.
KEGGhsa:221472.
UCSCuc003ong.2. human. [Q7Z6J4-1]
uc003onj.1. human. [Q7Z6J4-2]

Organism-specific databases

CTD221472.
GeneCardsGC06P036973.
HGNCHGNC:3664. FGD2.
HPAHPA029145.
MIM605091. gene.
neXtProtNX_Q7Z6J4.
PharmGKBPA28103.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG284234.
HOVERGENHBG007506.
KOK05721.
OMAYAAPQDM.
OrthoDBEOG7C2R0M.
PhylomeDBQ7Z6J4.
TreeFamTF316247.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressQ7Z6J4.
BgeeQ7Z6J4.
CleanExHS_FGD2.
GenevestigatorQ7Z6J4.

Family and domain databases

Gene3D1.20.900.10. 1 hit.
2.30.29.30. 2 hits.
3.30.40.10. 1 hit.
InterProIPR000219. DH-domain.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR000306. Znf_FYVE.
IPR017455. Znf_FYVE-rel.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamPF01363. FYVE. 1 hit.
PF00169. PH. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTSM00064. FYVE. 1 hit.
SM00233. PH. 2 hits.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMSSF48065. SSF48065. 1 hit.
SSF57903. SSF57903. 1 hit.
PROSITEPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 2 hits.
PS50178. ZF_FYVE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFGD2. human.
GeneWikiFGD2.
GenomeRNAi221472.
NextBio91355.
PROQ7Z6J4.
SOURCESearch...

Entry information

Entry nameFGD2_HUMAN
AccessionPrimary (citable) accession number: Q7Z6J4
Secondary accession number(s): Q5T8I1 expand/collapse secondary AC list , Q6P6A8, Q6ZNL5, Q8IZ32, Q8N868, Q9H7M2
Entry history
Integrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: October 1, 2003
Last modified: July 9, 2014
This is version 104 of the entry and version 1 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 6

Human chromosome 6: entries, gene names and cross-references to MIM