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GCC2 GRIP and coiled-coil domain containing 2 [ Homo sapiens (human) ]

Gene ID: 9648, updated on 2-Nov-2024

Summary

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Official Symbol
GCC2provided by HGNC
Official Full Name
GRIP and coiled-coil domain containing 2provided by HGNC
Primary source
HGNC:HGNC:23218
See related
Ensembl:ENSG00000135968 MIM:612711; AllianceGenome:HGNC:23218
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
REN53; GCC185; RANBP2L4
Summary
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]
Expression
Ubiquitous expression in gall bladder (RPKM 11.9), thyroid (RPKM 11.7) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See GCC2 in Genome Data Viewer
Location:
2q12.3
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (108449206..108509415)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (108909826..108970093)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (109065662..109125871)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene sulfotransferase family 1C member 4 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:109019914-109020414 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:109020415-109020915 Neighboring gene small integral membrane protein 12 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:109064602-109065584 and GRCh37_chr2:109065585-109066566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109066652-109067152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109067153-109067653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16343 Neighboring gene 2q12.3 distal recombination region Neighboring gene GCC2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 7983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11849 Neighboring gene LIM zinc finger domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16344 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:109191556-109192512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16345 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:109210352-109211551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16348 Neighboring gene NANOG hESC enhancer GRCh37_chr2:109225689-109226190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16349 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109252737-109253311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:109271409-109272023 Neighboring gene Sharpr-MPRA regulatory region 6630 Neighboring gene LIMS1 antisense RNA 1 Neighboring gene cytochrome c oxidase subunit 7B, mitochondrial-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. GCC185 plays independent roles in Golgi structure maintenance and AP-1-mediated vesicle tethering. Brown FC, et al. J Cell Biol, 2011 Sep 5. PMID 21875948, Free PMC Article
  2. Multiple Rab GTPase binding sites in GCC185 suggest a model for vesicle tethering at the trans-Golgi. Hayes GL, et al. Mol Biol Cell, 2009 Jan. PMID 18946081, Free PMC Article
  3. Protein flexibility is required for vesicle tethering at the Golgi. Cheung PY, et al. Elife, 2015 Dec 14. PMID 26653856, Free PMC Article
  4. Mammalian GRIP domain proteins differ in their membrane binding properties and are recruited to distinct domains of the TGN. Derby MC, et al. J Cell Sci, 2004 Nov 15. PMID 15522892
  5. Golgi-endosome transport mediated by M6PR facilitates release of antisense oligonucleotides from endosomes. Liang XH, et al. Nucleic Acids Res, 2020 Feb 20. PMID 31840180, Free PMC Article

See all (72) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The co-localization of M6PR and of GCC2 with ASOs is influenced by the PS modifications, which have been shown to enhance the affinity of ASOs for proteins, suggesting that localization of these proteins to LEs is mediated by ASO-protein interactions. Reduction of M6PR levels also decreased PS-ASO activity in mouse cells and in livers of mice treated subcutaneously with PS-ASO, indicating a conserved mechanism.
    Title: Golgi-endosome transport mediated by M6PR facilitates release of antisense oligonucleotides from endosomes.
  2. In light of existing report suggesting critical role of Nef-GCC185 interaction reveals valuable mechanistic insights affecting specific protein transport pathway in docking of late endosome derived Rab9 bearing transport vesicle at TGN elucidating role of Nef during viral pathogenesis.
    Title: HIV-1 Nef binds with human GCC185 protein and regulates mannose 6 phosphate receptor recycling.
  3. These unexpected features support a model in which GCC185 collapses onto the Golgi surface, perhaps by binding to Rab GTPases, to mediate vesicle tethering.
    Title: Protein flexibility is required for vesicle tethering at the Golgi.
  4. Deletion of the ARL4A-interacting region of GCC185 results in inability to maintain Golgi structure and modulate endosome-to-Golgi transport.
    Title: ARL4A acts with GCC185 to modulate Golgi complex organization.
  5. Two distinct domains of GCC185 are needed either for Golgi structure maintenance or transport vesicle tethering. The domain needed for vesicle tethering binds to the clathrin adaptor AP-1.
    Title: GCC185 plays independent roles in Golgi structure maintenance and AP-1-mediated vesicle tethering.
  6. Study demonstrates that Golgi recruitment of endogenous GCC185 does not involve Rab6A/A' and Arl1.
    Title: The localization of the Golgin GCC185 is independent of Rab6A/A' and Arl1.
  7. Results show that GCC185 contains at least six binding sites for as many as 14 different Rab GTPases across its entire length.
    Title: Multiple Rab GTPase binding sites in GCC185 suggest a model for vesicle tethering at the trans-Golgi.
  8. Rab and Arl GTPase family members cooperate in the localization of GCC2.
    Title: Rab and Arl GTPase family members cooperate in the localization of the golgin GCC185.
  9. GCC2 is required for endosome-to-Golgi transport and maintenance of Golgi structure.
    Title: The trans-Golgi network golgin, GCC185, is required for endosome-to-Golgi transport and maintenance of Golgi structure.
  10. The ability of the four mammalian GRIP domain proteins, p230, golgin-97, GCC88, and GCC185 to interact is reported.
    Title: The trans-Golgi network GRIP-domain proteins form alpha-helical homodimers.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef binds GCC2 (GCC185); the N-terminal EEEE65 acidic domain of Nef as the key region for interaction PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0336

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in Golgi ribbon formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
NOT involved_in Golgi to plasma membrane protein transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in late endosome to Golgi transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in late endosome to Golgi transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in microtubule anchoring IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in microtubule organizing center organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to Golgi apparatus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein targeting to lysosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in recycling endosome to Golgi transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of protein exit from endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
GRIP and coiled-coil domain-containing protein 2
Names
185 kDa Golgi coiled-coil protein
CLL-associated antigen KW-11
CTCL tumor antigen se1-1
GCC protein, 185-kD
Golgi coiled-coil protein GCC185
Ran-binding protein 2-like 4
renal carcinoma antigen NY-REN-53

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001410194.1 → NP_001397123.1  GRIP and coiled-coil domain-containing protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC012487, AC068941
    UniProtKB/TrEMBL
    A0A8I5QJB7
    Related
    ENSP00000508981.1, ENST00000685519.1

  2. NM_181453.4 → NP_852118.2  GRIP and coiled-coil domain-containing protein 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AC012487, AC068941
    Consensus CDS
    CCDS33268.1
    UniProtKB/Swiss-Prot
    A6H8X8, O15045, Q4ZG46, Q8IWJ2, Q8TDH3, Q9H2G8
    UniProtKB/TrEMBL
    A0A8I5KW38
    Related
    ENSP00000307939.5, ENST00000309863.11
    Conserved Domains (4) summary
    COG1196
    Location:41 → 953
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:700 → 1478
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16704
    Location:1548 → 1612
    Rab_bind; Rab binding domain
    pfam01465
    Location:1613 → 1656
    GRIP; GRIP domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    108449206..108509415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712870.4 → XP_006712933.1  GRIP and coiled-coil domain-containing protein 2 isoform X1

    UniProtKB/TrEMBL
    A0A8I5KW38
    Conserved Domains (4) summary
    COG1196
    Location:44 → 956
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:703 → 1481
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam01465
    Location:1617 → 1659
    GRIP; GRIP domain
    pfam16704
    Location:1551 → 1615
    Rab_bind; Rab binding domain

  2. XM_006712871.2 → XP_006712934.1  GRIP and coiled-coil domain-containing protein 2 isoform X2

    See identical proteins and their annotated locations for XP_006712934.1

    UniProtKB/TrEMBL
    A0A8I5KW38, A0A8I5QJB7
    Conserved Domains (4) summary
    COG1196
    Location:17 → 852
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:599 → 1377
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam01465
    Location:1513 → 1555
    GRIP; GRIP domain
    pfam16704
    Location:1447 → 1511
    Rab_bind; Rab binding domain

  3. XM_047446447.1 → XP_047302403.1  GRIP and coiled-coil domain-containing protein 2 isoform X3

  4. XM_047446448.1 → XP_047302404.1  GRIP and coiled-coil domain-containing protein 2 isoform X4

  5. XM_006712872.4 → XP_006712935.1  GRIP and coiled-coil domain-containing protein 2 isoform X5

    UniProtKB/TrEMBL
    B8ZZW2
    Conserved Domains (1) summary
    COG1196
    Location:44 → 956
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  6. XM_047446449.1 → XP_047302405.1  GRIP and coiled-coil domain-containing protein 2 isoform X6

    Related
    ENSP00000386997.1, ENST00000409896.1

RNA

  1. XR_923067.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    108909826..108970093
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344670.1 → XP_054200645.1  GRIP and coiled-coil domain-containing protein 2 isoform X1

  2. XM_054344671.1 → XP_054200646.1  GRIP and coiled-coil domain-containing protein 2 isoform X3

  3. XM_054344672.1 → XP_054200647.1  GRIP and coiled-coil domain-containing protein 2 isoform X4

  4. XM_054344673.1 → XP_054200648.1  GRIP and coiled-coil domain-containing protein 2 isoform X5

  5. XM_054344674.1 → XP_054200649.1  GRIP and coiled-coil domain-containing protein 2 isoform X6

RNA

  1. XR_008486606.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IWJ2.4 GenPept UniProtKB/Swiss-Prot:Q8IWJ2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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