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A6NGY1

- FRG2C_HUMAN

UniProt

A6NGY1 - FRG2C_HUMAN

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Protein

Protein FRG2-like-2

Gene

FRG2C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Protein inferred from homologyi

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FRG2-like-2
Alternative name(s):
FSHD region gene 2 protein family member C
HSA3-FRG2
Gene namesi
Name:FRG2C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:33626. FRG2C.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162388921.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 282282Protein FRG2-like-2PRO_0000300692Add
BLAST

Proteomic databases

PaxDbiA6NGY1.
PRIDEiA6NGY1.

PTM databases

PhosphoSiteiA6NGY1.

Expressioni

Gene expression databases

BgeeiA6NGY1.
GenevestigatoriA6NGY1.

Organism-specific databases

HPAiHPA039264.
HPA047769.

Structurei

3D structure databases

ProteinModelPortaliA6NGY1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FRG2 family.Curated

Phylogenomic databases

eggNOGiNOG86920.
GeneTreeiENSGT00530000064266.
HOGENOMiHOG000112644.
HOVERGENiHBG106627.
InParanoidiA6NGY1.
OMAiISSKDIC.
PhylomeDBiA6NGY1.
TreeFamiTF342559.

Family and domain databases

InterProiIPR026245. FRG2.
[Graphical view]
PANTHERiPTHR31883. PTHR31883. 1 hit.
PfamiPF15315. FRG2. 1 hit.
[Graphical view]
PRINTSiPR02074. PROTEINFRG2.

Sequencei

Sequence statusi: Complete.

A6NGY1-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MGKGNEDPDL HCSSIQCSTD QPPFQQISFT EKGSDEKKPF KGKGKTAFSH
60 70 80 90 100
SSEKHTQRQA GSDPNPNKEN SEETKLKAGN STAGSEPESS SYQENCRKRK
110 120 130 140 150
ISSKDICQDR AGNCPEEECN LTLNKKSRSS TAVHNSEIQE TCDAHHRGSS
160 170 180 190 200
RACTGRSKRH RSRALEVQTP SLRKSLVTSV RAMSEAVYQD LAQVWAQQIH
210 220 230 240 250
SPLTCEQLTL LTRLRGPLCA QVQTLYSMAT QAAYVFPAES WLVPATLPGP
260 270 280
GDSALDREAH PFPGQEITEP VSGSDEAKLG AP
Length:282
Mass (Da):30,798
Last modified:July 24, 2007 - v1
Checksum:iA27D0A9024909236
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121C → R.
Corresponds to variant rs13073018 [ dbSNP | Ensembl ].
VAR_060156
Natural varianti210 – 2101L → M.
Corresponds to variant rs13096122 [ dbSNP | Ensembl ].
VAR_060157

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC108724 Genomic DNA. No translation available.
CCDSiCCDS43108.1.
RefSeqiNP_001118231.1. NM_001124759.1.
UniGeneiHs.274541.

Genome annotation databases

EnsembliENST00000308062; ENSP00000312299; ENSG00000172969.
GeneIDi100288801.
KEGGihsa:100288801.
UCSCiuc003dpt.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC108724 Genomic DNA. No translation available.
CCDSi CCDS43108.1.
RefSeqi NP_001118231.1. NM_001124759.1.
UniGenei Hs.274541.

3D structure databases

ProteinModelPortali A6NGY1.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei A6NGY1.

Proteomic databases

PaxDbi A6NGY1.
PRIDEi A6NGY1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000308062 ; ENSP00000312299 ; ENSG00000172969 .
GeneIDi 100288801.
KEGGi hsa:100288801.
UCSCi uc003dpt.4. human.

Organism-specific databases

CTDi 100288801.
GeneCardsi GC03P075728.
H-InvDB HIX0020294.
HIX0176468.
HGNCi HGNC:33626. FRG2C.
HPAi HPA039264.
HPA047769.
neXtProti NX_A6NGY1.
PharmGKBi PA162388921.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG86920.
GeneTreei ENSGT00530000064266.
HOGENOMi HOG000112644.
HOVERGENi HBG106627.
InParanoidi A6NGY1.
OMAi ISSKDIC.
PhylomeDBi A6NGY1.
TreeFami TF342559.

Miscellaneous databases

GenomeRNAii 100288801.
NextBioi 95412.
PROi A6NGY1.

Gene expression databases

Bgeei A6NGY1.
Genevestigatori A6NGY1.

Family and domain databases

InterProi IPR026245. FRG2.
[Graphical view ]
PANTHERi PTHR31883. PTHR31883. 1 hit.
Pfami PF15315. FRG2. 1 hit.
[Graphical view ]
PRINTSi PR02074. PROTEINFRG2.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiFRG2C_HUMAN
AccessioniPrimary (citable) accession number: A6NGY1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: July 24, 2007
Last modified: October 29, 2014
This is version 62 of the entry and version 1 of the sequence. [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 3
    Human chromosome 3: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3