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Aliases for GCC2 Gene

Aliases for GCC2 Gene

  • GRIP And Coiled-Coil Domain Containing 2 2 3 5
  • Renal Carcinoma Antigen NY-REN-53 3 4
  • 185 KDa Golgi Coiled-Coil Protein 3 4
  • CLL-Associated Antigen KW-11 3 4
  • Ran-Binding Protein 2-Like 4 3 4
  • CTCL Tumor Antigen Se1-1 3 4
  • RANBP2L4 3 4
  • GCC185 3 4
  • GRIP And Coiled-Coil Domain-Containing Protein 2 3
  • GRIP And Coiled-Coil Domain-Containing 2 2
  • Golgi Coiled-Coil Protein GCC185 3
  • GCC Protein, 185-KD 3
  • KIAA0336 4
  • RanBP2L4 4
  • REN53 3

External Ids for GCC2 Gene

Previous GeneCards Identifiers for GCC2 Gene

  • GC02P108687
  • GC02P108524
  • GC02P109065
  • GC02P102664

Summaries for GCC2 Gene

Entrez Gene Summary for GCC2 Gene

  • The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

GeneCards Summary for GCC2 Gene

GCC2 (GRIP And Coiled-Coil Domain Containing 2) is a Protein Coding gene. Diseases associated with GCC2 include Hypertrophy Of Breast. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include identical protein binding and nucleotide binding.

UniProtKB/Swiss-Prot for GCC2 Gene

  • Golgin which probably tethers transport vesicles to the trans-Golgi network (TGN) and regulates vesicular transport between the endosomes and the Golgi. As a RAB9A effector it is involved in recycling of the mannose 6-phosphate receptor from the late endosomes to the TGN. May also play a role in transport between the recycling endosomes and the Golgi. Required for maintenance of the Golgi structure, it is involved in the biogenesis of noncentrosomal, Golgi-associated microtubules through recruitment of CLASP1 and CLASP2.

Gene Wiki entry for GCC2 Gene

Additional gene information for GCC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCC2 Gene

Genomics for GCC2 Gene

GeneHancer (GH) Regulatory Elements for GCC2 Gene

Promoters and enhancers for GCC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J108448 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 704.9 +0.9 932 2.9 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 GCC2 GC02M108447 SULT1C4 PIR33238
GH02J108532 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 55.8 +87.0 87036 5.9 HDGF CLOCK FOXA2 ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 LIMS1 GCC2-AS1 GCC2 SULT1C4 RGPD4 GC02P108499 PIR40245
GH02J108611 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 53.8 +169.2 169248 13.3 HDGF PKNOX1 SMAD1 ARNT FEZF1 IRF4 ZNF766 CBX5 ZNF213 ZNF207 LIMS1 GCC2 SULT1C4 LIMS1-AS1 RANBP2 PIR40245
GH02J108583 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 50.6 +142.1 142121 14.2 PKNOX1 SMAD1 ARNT IRF4 ZNF766 CBX5 ZNF143 FOS JUNB REST LIMS1 GCC2 RANBP2 PIR40245
GH02J108631 Enhancer 1.6 VISTA Ensembl ENCODE dbSUPER 50.5 +188.3 188344 10.8 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A TCF12 ARID2 ZNF143 FOS GCC2 LIMS1 RPL37P12 LIMS1-AS1 PIR40245
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GCC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GCC2 gene promoter:

Genomic Locations for GCC2 Gene

Genomic Locations for GCC2 Gene
chr2:108,448,561-108,509,415
(GRCh38/hg38)
Size:
60,855 bases
Orientation:
Plus strand
chr2:109,065,017-109,125,871
(GRCh37/hg19)

Genomic View for GCC2 Gene

Genes around GCC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCC2 Gene

Proteins for GCC2 Gene

  • Protein details for GCC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWJ2-GCC2_HUMAN
    Recommended name:
    GRIP and coiled-coil domain-containing protein 2
    Protein Accession:
    Q8IWJ2
    Secondary Accessions:
    • A6H8X8
    • O15045
    • Q4ZG46
    • Q8TDH3
    • Q9H2G8

    Protein attributes for GCC2 Gene

    Size:
    1684 amino acids
    Molecular mass:
    195910 Da
    Quaternary structure:
    • Homodimer. Interacts (via GRIP domain) with RAB6A (preferentially in its GTP-bound form). May interact (RAB6A-dependent) with ARL1; according to PubMed:19703403, RAB6A and ARL1 are not involved in GCC2 Golgi localization as proposed by PubMed:18243103. Interacts (probably via GRIP domain) with RAB9A (preferentially in its GTP-bound form). Interacts with CLASP1 and CLASP2; recruits both proteins to membranes of the TGN. Interacts with STX16.
    SequenceCaution:
    • Sequence=AAG34902.1; Type=Frameshift; Positions=694, 700, 937, 940; Evidence={ECO:0000305}; Sequence=AAH37774.1; Type=Miscellaneous discrepancy; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=AAI46790.1; Type=Miscellaneous discrepancy; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=AAL99918.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAX88838.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA20794.2; Type=Miscellaneous discrepancy; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=EAW53882.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GCC2 Gene

    Alternative splice isoforms for GCC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GCC2 Gene

Post-translational modifications for GCC2 Gene

  • Ubiquitination at Lys72
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GCC2 Gene

Domains & Families for GCC2 Gene

Gene Families for GCC2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GCC2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8IWJ2

UniProtKB/Swiss-Prot:

GCC2_HUMAN :
  • Extended rod-like protein with coiled-coil domains.
Domain:
  • Extended rod-like protein with coiled-coil domains.
genes like me logo Genes that share domains with GCC2: view

Function for GCC2 Gene

Molecular function for GCC2 Gene

UniProtKB/Swiss-Prot Function:
Golgin which probably tethers transport vesicles to the trans-Golgi network (TGN) and regulates vesicular transport between the endosomes and the Golgi. As a RAB9A effector it is involved in recycling of the mannose 6-phosphate receptor from the late endosomes to the TGN. May also play a role in transport between the recycling endosomes and the Golgi. Required for maintenance of the Golgi structure, it is involved in the biogenesis of noncentrosomal, Golgi-associated microtubules through recruitment of CLASP1 and CLASP2.

Phenotypes From GWAS Catalog for GCC2 Gene

Gene Ontology (GO) - Molecular Function for GCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16885419
GO:0042802 identical protein binding IPI 18243103
genes like me logo Genes that share ontologies with GCC2: view
genes like me logo Genes that share phenotypes with GCC2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GCC2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GCC2 Gene

Localization for GCC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCC2 Gene

Cytoplasm. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GCC2 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
endosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IBA --
GO:0005794 Golgi apparatus IDA 18243103
GO:0005802 trans-Golgi network IDA 16885419
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GCC2: view

Pathways & Interactions for GCC2 Gene

genes like me logo Genes that share pathways with GCC2: view

Gene Ontology (GO) - Biological Process for GCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006622 protein targeting to lysosome IMP 16885419
GO:0015031 protein transport IEA --
GO:0031023 microtubule organizing center organization IMP 17543864
GO:0034067 protein localization to Golgi apparatus IMP 16885419
GO:0034453 microtubule anchoring IMP 17543864
genes like me logo Genes that share ontologies with GCC2: view

No data available for SIGNOR curated interactions for GCC2 Gene

Drugs & Compounds for GCC2 Gene

No Compound Related Data Available

Transcripts for GCC2 Gene

Unigene Clusters for GCC2 Gene

GRIP and coiled-coil domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GCC2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GCC2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: - - -
SP2: - -
SP3: - - - -
SP4: - -
SP5: - - -
SP6: -
SP7: -
SP8: - - - - -
SP9:
SP10:

Relevant External Links for GCC2 Gene

GeneLoc Exon Structure for
GCC2
ECgene alternative splicing isoforms for
GCC2

Expression for GCC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GCC2 Gene

Protein differential expression in normal tissues from HIPED for GCC2 Gene

This gene is overexpressed in Stomach (14.8), Lymph node (10.5), and Brain (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GCC2 Gene



Protein tissue co-expression partners for GCC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GCC2 Gene:

GCC2

SOURCE GeneReport for Unigene cluster for GCC2 Gene:

Hs.436505

mRNA Expression by UniProt/SwissProt for GCC2 Gene:

Q8IWJ2-GCC2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for GCC2 Gene

  • Nervous system(4.6)
  • Intestine(2.8)
  • Adrenal gland(2.3)
  • Gall bladder(2.3)
  • Heart(2.3)
  • Lung(2.3)
  • Muscle(2.3)
  • Pancreas(2.3)
  • Stomach(2.3)
  • Thyroid gland(2.3)
  • Kidney(2)
genes like me logo Genes that share expression patterns with GCC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GCC2 Gene

Orthologs for GCC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GCC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GCC2 34 33
  • 99.31 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GCC2 34 33
  • 87.28 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gcc2 33
  • 83.35 (n)
mouse
(Mus musculus)
Mammalia Gcc2 16 34 33
  • 83.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GCC2 34
  • 82 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GCC2 34 33
  • 81.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GCC2 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCC2 34 33
  • 68.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCC2 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gcc2 33
  • 64.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3532 34
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T05G5.9 34
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8814 34
  • 23 (a)
OneToOne
Species where no ortholog for GCC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for GCC2 Gene

ENSEMBL:
Gene Tree for GCC2 (if available)
TreeFam:
Gene Tree for GCC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GCC2: view image

Paralogs for GCC2 Gene

genes like me logo Genes that share paralogs with GCC2: view

No data available for Paralogs for GCC2 Gene

Variants for GCC2 Gene

Sequence variations from dbSNP and Humsavar for GCC2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1057519387 uncertain-significance, Progressive sensorineural hearing impairment 108,470,399(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000052632 -- 108,504,866(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000099389 -- 108,479,806(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000187568 -- 108,489,556(+) A/T genic_downstream_transcript_variant, intron_variant
rs1000234141 -- 108,489,963(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GCC2 Gene

Variant ID Type Subtype PubMed ID
dgv153e55 CNV gain 17911159
dgv4035n100 CNV gain 25217958
dgv4036n100 CNV gain 25217958
dgv724e199 CNV deletion 23128226
esv2720498 CNV deletion 23290073
esv2759081 CNV gain 17122850
esv3591913 CNV gain 21293372
esv989899 CNV deletion 20482838
nsv10113 CNV loss 18304495
nsv2871 CNV deletion 18451855
nsv469774 CNV gain 16826518
nsv527491 CNV loss 19592680
nsv527686 CNV gain 19592680
nsv819058 CNV loss 19587683
nsv834328 CNV gain 17160897
nsv961852 CNV duplication 23825009

Variation tolerance for GCC2 Gene

Residual Variation Intolerance Score: 21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.71; 57.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GCC2 Gene

Human Gene Mutation Database (HGMD)
GCC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCC2 Gene

Disorders for GCC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GCC2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
hypertrophy of breast
  • breasts enlarged
- elite association - COSMIC cancer census association via MalaCards
Search GCC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GCC2

genes like me logo Genes that share disorders with GCC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GCC2 Gene

Publications for GCC2 Gene

  1. GRIP domain-mediated targeting of two new coiled-coil proteins, GCC88 and GCC185, to subcompartments of the trans-Golgi network. (PMID: 12446665) Luke MR … Gleeson PA (The Journal of biological chemistry 2003) 2 3 4 22 58
  2. The trans-Golgi network golgin, GCC185, is required for endosome-to-Golgi transport and maintenance of Golgi structure. (PMID: 17488291) Derby MC … Gleeson PA (Traffic (Copenhagen, Denmark) 2007) 3 4 22 58
  3. The localization of the Golgin GCC185 is independent of Rab6A/A' and Arl1. (PMID: 19703403) Houghton FJ … Gleeson PA (Cell 2009) 3 4 58
  4. A syntaxin 10-SNARE complex distinguishes two distinct transport routes from endosomes to the trans-Golgi in human cells. (PMID: 18195106) Ganley IG … Pfeffer SR (The Journal of cell biology 2008) 3 4 58
  5. Rab and Arl GTPase family members cooperate in the localization of the golgin GCC185. (PMID: 18243103) Burguete AS … Pfeffer SR (Cell 2008) 3 4 58

Products for GCC2 Gene

Sources for GCC2 Gene

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