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Entry version 184 (12 Aug 2020)
Sequence version 2 (28 Nov 2006)
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Protein

GC-rich sequence DNA-binding factor 2

Gene

GCFC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Factor that represses transcription. It binds to the GC-rich sequences (5'-GCGGGGC-3') present in the epidermal growth factor receptor, beta-actin, and calcium-dependent protease promoters. Involved in pre-mRNA splicing through regulating spliceosome C complex formation. May play a role during late-stage splicing events and turnover of excised inrons.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding, Repressor
Biological processmRNA processing, mRNA splicing, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P16383

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-72163, mRNA Splicing - Major Pathway

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
GC-rich sequence DNA-binding factor 2
Alternative name(s):
GC-rich sequence DNA-binding factor
Transcription factor 9
Short name:
TCF-9
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GCFC2
Synonyms:C2orf3, GCF, TCF9
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000005436.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1317, GCFC2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
189901, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P16383

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
6936

Open Targets

More...
OpenTargetsi
ENSG00000005436

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25892

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P16383, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GCFC2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
118572650

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000874411 – 781GC-rich sequence DNA-binding factor 2Add BLAST781

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei16PhosphoserineCombined sources1
Modified residuei17PhosphoserineCombined sources1
Modified residuei19PhosphoserineCombined sources1
Modified residuei40PhosphoserineCombined sources1
Modified residuei96PhosphoserineCombined sources1
Modified residuei97PhosphothreonineCombined sources1
Modified residuei129PhosphoserineBy similarity1
Modified residuei174PhosphoserineCombined sources1
Modified residuei180PhosphoserineCombined sources1
Modified residuei213PhosphothreonineCombined sources1
Modified residuei214PhosphoserineCombined sources1
Modified residuei217PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P16383

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P16383

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P16383

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P16383

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P16383

PeptideAtlas

More...
PeptideAtlasi
P16383

PRoteomics IDEntifications database

More...
PRIDEi
P16383

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
53347 [P16383-1]
53348 [P16383-2]
704

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P16383

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P16383

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed in tissues and cell lines.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000005436, Expressed in kidney and 221 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P16383, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P16383, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000005436, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Found in the Intron Large (IL) complex, a post-mRNA release spliceosomal complex containing the excised intron, U2, U5 and U6 snRNPs, and splicing factors.

Interacts with TFIP11 and DHX15.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
112797, 26 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P16383

Protein interaction database and analysis system

More...
IntActi
P16383, 27 interactors

Molecular INTeraction database

More...
MINTi
P16383

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000318690

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P16383, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P16383

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili267 – 312Sequence analysisAdd BLAST46

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi116 – 122Poly-Ser7

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the GCF family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2136, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000455

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_1144868_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P16383

KEGG Orthology (KO)

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KOi
K09061

Identification of Orthologs from Complete Genome Data

More...
OMAi
QALNCKF

Database of Orthologous Groups

More...
OrthoDBi
1217358at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P16383

TreeFam database of animal gene trees

More...
TreeFami
TF315109

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR012890, GCFC
IPR022783, GCFC_dom

The PANTHER Classification System

More...
PANTHERi
PTHR12214, PTHR12214, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07842, GCFC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P16383-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAHRPKRTFR QRAADSSDSD GAEESPAEPG APRELPVPGS AEEEPPSGGG
60 70 80 90 100
RAQVAGLPHR VRGPRGRGRV WASSRRATKA APRADEGSES RTLDVSTDEE
110 120 130 140 150
DKIHHSSESK DDQGLSSDSS SSLGEKELSS TVKIPDAAFI QAARRKRELA
160 170 180 190 200
RAQDDYISLD VQHTSSISGM KRESEDDPES EPDDHEKRIP FTLRPQTLRQ
210 220 230 240 250
RMAEESISRN EETSEESQED EKQDTWEQQQ MRKAVKIIEE RDIDLSCGNG
260 270 280 290 300
SSKVKKFDTS ISFPPVNLEI IKKQLNTRLT LLQETHRSHL REYEKYVQDV
310 320 330 340 350
KSSKSTIQNL ESSSNQALNC KFYKSMKIYV ENLIDCLNEK IINIQEIESS
360 370 380 390 400
MHALLLKQAM TFMKRRQDEL KHESTYLQQL SRKDETSTSG NFSVDEKTQW
410 420 430 440 450
ILEEIESRRT KRRQARVLSG NCNHQEGTSS DDELPSAEMI DFQKSQGDIL
460 470 480 490 500
QKQKKVFEEV QDDFCNIQNI LLKFQQWREK FPDSYYEAFI SLCIPKLLNP
510 520 530 540 550
LIRVQLIDWN PLKLESTGLK EMPWFKSVEE FMDSSVEDSK KESSSDKKVL
560 570 580 590 600
SAIINKTIIP RLTDFVEFLW DPLSTSQTTS LITHCRVILE EHSTCENEVS
610 620 630 640 650
KSRQDLLKSI VSRMKKAVED DVFIPLYPKS AVENKTSPHS KFQERQFWSG
660 670 680 690 700
LKLFRNILLW NGLLTDDTLQ ELGLGKLLNR YLIIALLNAT PGPDVVKKCN
710 720 730 740 750
QVAACLPEKW FENSAMRTSI PQLENFIQFL LQSAHKLSRS EFRDEVEEII
760 770 780
LILVKIKALN QAESFIGEHH LDHLKSLIKE D
Length:781
Mass (Da):89,385
Last modified:November 28, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i38D34EE4442EB3DF
GO
Isoform 2 (identifier: P16383-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     169-207: GMKRESEDDPESEPDDHEKRIPFTLRPQTLRQRMAEESI → V

Show »
Length:743
Mass (Da):84,847
Checksum:iE0187138CD59CE75
GO
Isoform 3 (identifier: P16383-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     207-213: ISRNEET → SMDLPIY
     214-779: Missing.

Show »
Length:215
Mass (Da):23,613
Checksum:iBE28FB823AF92EB5
GO
Isoform 4 (identifier: P16383-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     240-254: ERDIDLSCGNGSSKV → INITTGNSPLTPEGV
     255-781: Missing.

Show »
Length:254
Mass (Da):28,048
Checksum:iF2466348136E2B62
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JII4C9JII4_HUMAN
GC-rich sequence DNA-binding factor...
GCFC2
185Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C335H7C335_HUMAN
GC-rich sequence DNA-binding factor...
GCFC2
199Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R3C1S4R3C1_HUMAN
GC-rich sequence DNA-binding factor...
GCFC2
35Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R465S4R465_HUMAN
GC-rich sequence DNA-binding factor...
GCFC2
43Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R461S4R461_HUMAN
GC-rich sequence DNA-binding factor...
GCFC2
27Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA35598 differs from that shown. Contaminating sequence. The N-terminus matches the 2q37.3 region.Curated
The sequence AAA35598 differs from that shown. Reason: Frameshift.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05100532P → A1 PublicationCorresponds to variant dbSNP:rs7559767Ensembl.1
Natural variantiVAR_051006249N → S. Corresponds to variant dbSNP:rs7560262Ensembl.1
Natural variantiVAR_051007316Q → E. Corresponds to variant dbSNP:rs6742946Ensembl.1
Natural variantiVAR_051008594T → A. Corresponds to variant dbSNP:rs6722682Ensembl.1
Natural variantiVAR_051009724E → D. Corresponds to variant dbSNP:rs17690300Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_021798169 – 207GMKRE…AEESI → V in isoform 2. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_054362207 – 213ISRNEET → SMDLPIY in isoform 3. 1 Publication7
Alternative sequenceiVSP_054363214 – 779Missing in isoform 3. 1 PublicationAdd BLAST566
Alternative sequenceiVSP_057398240 – 254ERDID…GSSKV → INITTGNSPLTPEGV in isoform 4. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_057399255 – 781Missing in isoform 4. 1 PublicationAdd BLAST527

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M29204 mRNA Translation: AAA35598.1 Sequence problems.
EF158467 mRNA Translation: ABO84856.1
EF158468 mRNA Translation: ABO84857.1
AC005034 Genomic DNA Translation: AAY14973.1
CH471053 Genomic DNA Translation: EAW99586.1
BC064559 mRNA Translation: AAH64559.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1961.1 [P16383-1]
CCDS62943.1 [P16383-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
A33633

NCBI Reference Sequences

More...
RefSeqi
NP_001188263.1, NM_001201334.1
NP_001188264.1, NM_001201335.1 [P16383-3]
NP_003194.3, NM_003203.4 [P16383-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000321027; ENSP00000318690; ENSG00000005436 [P16383-1]
ENST00000409857; ENSP00000386552; ENSG00000005436 [P16383-2]
ENST00000470503; ENSP00000474481; ENSG00000005436 [P16383-3]
ENST00000541687; ENSP00000437767; ENSG00000005436 [P16383-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6936

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6936

UCSC genome browser

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UCSCi
uc002sno.4, human [P16383-1]
uc061lbc.1, human

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M29204 mRNA Translation: AAA35598.1 Sequence problems.
EF158467 mRNA Translation: ABO84856.1
EF158468 mRNA Translation: ABO84857.1
AC005034 Genomic DNA Translation: AAY14973.1
CH471053 Genomic DNA Translation: EAW99586.1
BC064559 mRNA Translation: AAH64559.1
CCDSiCCDS1961.1 [P16383-1]
CCDS62943.1 [P16383-3]
PIRiA33633
RefSeqiNP_001188263.1, NM_001201334.1
NP_001188264.1, NM_001201335.1 [P16383-3]
NP_003194.3, NM_003203.4 [P16383-1]

3D structure databases

SMRiP16383
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi112797, 26 interactors
CORUMiP16383
IntActiP16383, 27 interactors
MINTiP16383
STRINGi9606.ENSP00000318690

PTM databases

iPTMnetiP16383
PhosphoSitePlusiP16383

Polymorphism and mutation databases

BioMutaiGCFC2
DMDMi118572650

Proteomic databases

EPDiP16383
jPOSTiP16383
MassIVEiP16383
MaxQBiP16383
PaxDbiP16383
PeptideAtlasiP16383
PRIDEiP16383
ProteomicsDBi53347 [P16383-1]
53348 [P16383-2]
704

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
31654, 163 antibodies

Genome annotation databases

EnsembliENST00000321027; ENSP00000318690; ENSG00000005436 [P16383-1]
ENST00000409857; ENSP00000386552; ENSG00000005436 [P16383-2]
ENST00000470503; ENSP00000474481; ENSG00000005436 [P16383-3]
ENST00000541687; ENSP00000437767; ENSG00000005436 [P16383-4]
GeneIDi6936
KEGGihsa:6936
UCSCiuc002sno.4, human [P16383-1]
uc061lbc.1, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6936
DisGeNETi6936
EuPathDBiHostDB:ENSG00000005436.13

GeneCards: human genes, protein and diseases

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GeneCardsi
GCFC2
HGNCiHGNC:1317, GCFC2
HPAiENSG00000005436, Low tissue specificity
MIMi189901, gene
neXtProtiNX_P16383
OpenTargetsiENSG00000005436
PharmGKBiPA25892

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2136, Eukaryota
GeneTreeiENSGT00390000000455
HOGENOMiCLU_1144868_0_0_1
InParanoidiP16383
KOiK09061
OMAiQALNCKF
OrthoDBi1217358at2759
PhylomeDBiP16383
TreeFamiTF315109

Enzyme and pathway databases

PathwayCommonsiP16383
ReactomeiR-HSA-72163, mRNA Splicing - Major Pathway

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
6936, 5 hits in 878 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
GCFC2, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
C2orf3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6936
PharosiP16383, Tbio

Protein Ontology

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PROi
PR:P16383
RNActiP16383, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000005436, Expressed in kidney and 221 other tissues
ExpressionAtlasiP16383, baseline and differential
GenevisibleiP16383, HS

Family and domain databases

InterProiView protein in InterPro
IPR012890, GCFC
IPR022783, GCFC_dom
PANTHERiPTHR12214, PTHR12214, 1 hit
PfamiView protein in Pfam
PF07842, GCFC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGCFC2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P16383
Secondary accession number(s): A4UHQ8
, A4UHQ9, O95032, Q53TY0, Q6P2F2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: November 28, 2006
Last modified: August 12, 2020
This is version 184 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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