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O60548 (FOXD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 112. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Forkhead box protein D2
Alternative name(s):
Forkhead-related protein FKHL17
Forkhead-related transcription factor 9
Short name=FREAC-9
Gene names
Name:FOXD2
Synonyms:FKHL17, FREAC9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length495 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probable transcription factor involved in embryogenesis and somatogenesis By similarity.

Subcellular location

Nucleus By similarity.

Tissue specificity

Kidney specific. Ref.1

Sequence similarities

Contains 1 fork-head DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxon extension involved in axon guidance

Inferred from Biological aspect of Ancestor. Source: RefGenome

branching involved in ureteric bud morphogenesis

Inferred from Biological aspect of Ancestor. Source: RefGenome

cartilage development

Inferred from Biological aspect of Ancestor. Source: RefGenome

enteric nervous system development

Inferred from Biological aspect of Ancestor. Source: RefGenome

iridophore differentiation

Inferred from Biological aspect of Ancestor. Source: RefGenome

kidney development

Inferred from Biological aspect of Ancestor. Source: RefGenome

lateral line nerve glial cell development

Inferred from Biological aspect of Ancestor. Source: RefGenome

melanocyte differentiation

Inferred from Biological aspect of Ancestor. Source: RefGenome

negative regulation of transcription from RNA polymerase II promoter

Inferred from Biological aspect of Ancestor. Source: RefGenome

neural crest cell migration

Inferred from Biological aspect of Ancestor. Source: RefGenome

pattern specification process

Inferred from Biological aspect of Ancestor. Source: RefGenome

peripheral nervous system development

Inferred from Biological aspect of Ancestor. Source: RefGenome

positive regulation of transcription from RNA polymerase II promoter

Inferred from Biological aspect of Ancestor. Source: RefGenome

regulation of sequence-specific DNA binding transcription factor activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

sympathetic nervous system development

Inferred from Biological aspect of Ancestor. Source: RefGenome

transcription from RNA polymerase II promoter

Inferred from Biological aspect of Ancestor. Source: GOC

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

transcription factor complex

Inferred from Biological aspect of Ancestor. Source: RefGenome

   Molecular_functionDNA binding, bending

Inferred from Biological aspect of Ancestor. Source: RefGenome

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

double-stranded DNA binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

sequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Traceable author statement Ref.1. Source: ProtInc

transcription factor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 495495Forkhead box protein D2
PRO_0000091815

Regions

DNA binding126 – 21792Fork-head
Compositional bias227 – 353127Pro-rich
Compositional bias247 – 464218Ala-rich
Compositional bias342 – 447106Gly-rich

Natural variations

Natural variant3681A → P. Ref.1
Corresponds to variant rs2405913 [ dbSNP | Ensembl ].
VAR_061185

Experimental info

Sequence conflict2931H → HPH in AAC15421. Ref.1

Sequences

Sequence LengthMass (Da)Tools
O60548 [UniParc].

Last modified February 26, 2008. Version 2.
Checksum: E905950E1FA94565

FASTA49548,748
        10         20         30         40         50         60 
MTLGSCCCEI MSSESSPAAL SEADADIDVV GGGSGGGELP ARSGPRAPRD VLPHGHEPPA 

        70         80         90        100        110        120 
EEAEADLAED EEESGGCSDG EPRALASRGA AAAAGSPGPG AAAARGAAGP GPGPPSGGAA 

       130        140        150        160        170        180 
TRSPLVKPPY SYIALITMAI LQSPKKRLTL SEICEFISGR FPYYREKFPA WQNSIRHNLS 

       190        200        210        220        230        240 
LNDCFVKIPR EPGNPGKGNY WTLDPESADM FDNGSFLRRR KRFKRQPLPP PHPHPHPHPE 

       250        260        270        280        290        300 
LLLRGGAAAA GDPGAFLPGF AAYGAYGYGY GLALPAYGAP PPGPAPHPHP HPHAFAFAAA 

       310        320        330        340        350        360 
AAAAPCQLSV PPGRAAAPPP GPPTASVFAG AGSAPAPAPA SGSGPGPGPA GLPAFLGAEL 

       370        380        390        400        410        420 
GCAKAFYAAS LSPPAAGTAA GLPTALLRQG LKTDAGGGAG GGGAGAGQRP SFSIDHIMGH 

       430        440        450        460        470        480 
GGGGAAPPGA GEGSPGPPFA AAAGPGGQAQ VLAMLTAPAL APVAGHIRLS HPGDALLSSG 

       490 
SRFASKVAGL SGCHF 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and characterization of freac-9 (FKHL17), a novel kidney-expressed human forkhead gene that maps to chromosome 1p32-p34."
Ernstsson S., Betz R., Lagercrantz S., Larsson C., Ericksson S., Cederberg A., Carlsson P., Enerbaeck S.
Genomics 46:78-85(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT PRO-368.
[2]Enerbaeck S.
Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
Cited for: SEQUENCE REVISION.
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF042832 mRNA. Translation: AAC15421.1.
AL607122 Genomic DNA. Translation: CAI14974.1.
CCDSCCDS30708.1.
RefSeqNP_004465.3. NM_004474.3.
UniGeneHs.166188.

3D structure databases

ProteinModelPortalO60548.
SMRO60548. Positions 126-222.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000335493.

PTM databases

PhosphoSiteO60548.

Proteomic databases

PaxDbO60548.
PRIDEO60548.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000334793; ENSP00000335493; ENSG00000186564.
GeneID2306.
KEGGhsa:2306.
UCSCuc001crm.3. human.

Organism-specific databases

CTD2306.
GeneCardsGC01P047901.
HGNCHGNC:3803. FOXD2.
MIM602211. gene.
neXtProtNX_O60548.
PharmGKBPA28220.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5025.
HOGENOMHOG000231285.
InParanoidO60548.
KOK09397.
OMACEIMSSE.
OrthoDBEOG7C8GHD.
PhylomeDBO60548.
TreeFamTF316127.

Gene expression databases

BgeeO60548.
CleanExHS_FOXD2.
GenevestigatorO60548.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
InterProIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSPR00053. FORKHEAD.
SMARTSM00339. FH. 1 hit.
[Graphical view]
PROSITEPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi2306.
NextBio9367.
PROO60548.
SOURCESearch...

Entry information

Entry nameFOXD2_HUMAN
AccessionPrimary (citable) accession number: O60548
Secondary accession number(s): Q5SVZ3
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: February 26, 2008
Last modified: July 9, 2014
This is version 112 of the entry and version 2 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 1

Human chromosome 1: entries, gene names and cross-references to MIM