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A6NGY1 (FRG2C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 57. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
Protein FRG2-like-2
Alternative name(s):
FSHD region gene 2 protein family member C
HSA3-FRG2
Gene names
Name:FRG2C
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length282 AA.
Sequence statusComplete.
Protein existenceInferred from homology

General annotation (Comments)

Subcellular location

Nucleus By similarity.

Sequence similarities

Belongs to the FRG2 family.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 282282Protein FRG2-like-2
PRO_0000300692

Natural variations

Natural variant121C → R.
Corresponds to variant rs13073018 [ dbSNP | Ensembl ].
VAR_060156
Natural variant2101L → M.
Corresponds to variant rs13096122 [ dbSNP | Ensembl ].
VAR_060157

Sequences

Sequence LengthMass (Da)Tools
A6NGY1 [UniParc].

Last modified July 24, 2007. Version 1.
Checksum: A27D0A9024909236

FASTA28230,798
        10         20         30         40         50         60 
MGKGNEDPDL HCSSIQCSTD QPPFQQISFT EKGSDEKKPF KGKGKTAFSH SSEKHTQRQA 

        70         80         90        100        110        120 
GSDPNPNKEN SEETKLKAGN STAGSEPESS SYQENCRKRK ISSKDICQDR AGNCPEEECN 

       130        140        150        160        170        180 
LTLNKKSRSS TAVHNSEIQE TCDAHHRGSS RACTGRSKRH RSRALEVQTP SLRKSLVTSV 

       190        200        210        220        230        240 
RAMSEAVYQD LAQVWAQQIH SPLTCEQLTL LTRLRGPLCA QVQTLYSMAT QAAYVFPAES 

       250        260        270        280 
WLVPATLPGP GDSALDREAH PFPGQEITEP VSGSDEAKLG AP 

« Hide

References

« Hide 'large scale' references
[1]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients."
Rijkers T., Deidda G., van Koningsbruggen S., van Geel M., Lemmers R.J.L.F., van Deutekom J.C.T., Figlewicz D., Hewitt J.E., Padberg G.W., Frants R.R., van der Maarel S.M.
J. Med. Genet. 41:826-836(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC108724 Genomic DNA. No translation available.
RefSeqNP_001118231.1. NM_001124759.1.
UniGeneHs.274541.
Hs.722640.

3D structure databases

ProteinModelPortalA6NGY1.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteA6NGY1.

Proteomic databases

PaxDbA6NGY1.
PRIDEA6NGY1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308062; ENSP00000312299; ENSG00000172969.
GeneID100288801.
KEGGhsa:100288801.
hsa:651959.
UCSCuc003dpt.4. human.

Organism-specific databases

CTD100288801.
GeneCardsGC03P075728.
H-InvDBHIX0020294.
HIX0176468.
HGNCHGNC:33626. FRG2C.
HPAHPA039264.
HPA047769.
neXtProtNX_A6NGY1.
PharmGKBPA162388921.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG86920.
HOGENOMHOG000112644.
HOVERGENHBG106627.
InParanoidA6NGY1.
OMAISSKDIC.
PhylomeDBA6NGY1.
TreeFamTF342559.

Gene expression databases

ArrayExpressA6NGY1.
BgeeA6NGY1.
GenevestigatorA6NGY1.

Family and domain databases

InterProIPR026245. FRG2.
[Graphical view]
PANTHERPTHR31883. PTHR31883. 1 hit.
PfamPF15315. FRG2. 1 hit.
[Graphical view]
PRINTSPR02074. PROTEINFRG2.
ProtoNetSearch...

Other

NextBio95412.
PROA6NGY1.

Entry information

Entry nameFRG2C_HUMAN
AccessionPrimary (citable) accession number: A6NGY1
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: July 24, 2007
Last modified: April 16, 2014
This is version 57 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

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 3

Human chromosome 3: entries, gene names and cross-references to MIM