A6NGY1 (FRG2C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein FRG2-like-2

Alternative name(s):
FSHD region gene 2 protein family member C
HSA3-FRG2

Gene names

Name:

FRG2C

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	282 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Nucleus By similarity.
Sequence similarities	Belongs to the FRG2 family.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 282	282	Protein FRG2-like-2		PRO_0000300692
Natural variations
	Natural variant	12	1	C → R. Corresponds to variant rs13073018 [ dbSNP | Ensembl ].		VAR_060156
	Natural variant	210	1	L → M. Corresponds to variant rs13096122 [ dbSNP | Ensembl ].		VAR_060157

Sequences

	Sequence		Length	Mass (Da)
	A6NGY1 [UniParc]. Last modified July 24, 2007. Version 1. Checksum: A27D0A9024909236	FASTA	282	30,798
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00175122.
RefSeq	NP_001118231.1. NM_001124759.1. XP_003960078.1. XM_003960029.1.
UniGene	Hs.274541. Hs.722640.
3D structure databases
ProteinModelPortal	A6NGY1.
ModBase	Search...
PTM databases
PhosphoSite	A6NGY1.
Proteomic databases
PaxDb	A6NGY1.
PRIDE	A6NGY1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000308062; ENSP00000312299; ENSG00000172969.
GeneID	100288801. 651959.
KEGG	hsa:100288801. hsa:651959.
UCSC	uc003dpt.4. human.
Organism-specific databases
CTD	100288801.
GeneCards	GC00M7J0086. GC03P075716.
H-InvDB	HIX0020294. HIX0176468.
HGNC	HGNC:33626. FRG2C.
neXtProt	NX_A6NGY1.
PharmGKB	PA162388921.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG86920.
HOGENOM	HOG000112644.
HOVERGEN	HBG106627.
InParanoid	A6NGY1.
OMA	ISSKDIC.
OrthoDB	EOG41RPVJ.
Gene expression databases
ArrayExpress	A6NGY1.
Bgee	A6NGY1.
Genevestigator	A6NGY1.
Family and domain databases
InterPro	IPR026245. FRG2. [Graphical view]
PANTHER	PTHR31883. PTHR31883. 1 hit.
PRINTS	PR02074. PROTEINFRG2.
ProtoNet	Search...
Other
NextBio	95412.

Entry information

Entry name

FRG2C_HUMAN

Accession

Primary (citable) accession number: A6NGY1

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	July 24, 2007
Last modified:	April 3, 2013
This is version 50 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.