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

Summary

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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69881 (e-PCR)
- UniSTS:12837

RH11823 (e-PCR)
- UniSTS:10814

D2S1552E (e-PCR)
- UniSTS:150637

D2S2897 (e-PCR)
- UniSTS:47316

RH35930 (e-PCR)
- UniSTS:87773

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 more info	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)

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

A0A8I5KW38, A0A8I5QJB7

Related

ENSP00000508981.1, ENST00000685519.1
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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

108449206..108509415

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_047446447.1 → XP_047302403.1 GRIP and coiled-coil domain-containing protein 2 isoform X3
XM_047446448.1 → XP_047302404.1 GRIP and coiled-coil domain-containing protein 2 isoform X4
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]
XM_047446449.1 → XP_047302405.1 GRIP and coiled-coil domain-containing protein 2 isoform X6

UniProtKB/TrEMBL

B8ZZW2

Related

ENSP00000386997.1, ENST00000409896.1

RNA

XR_923067.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

108909826..108970093

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A8I5KW38
XM_054344671.1 → XP_054200646.1 GRIP and coiled-coil domain-containing protein 2 isoform X3
XM_054344672.1 → XP_054200647.1 GRIP and coiled-coil domain-containing protein 2 isoform X4
XM_054344673.1 → XP_054200648.1 GRIP and coiled-coil domain-containing protein 2 isoform X5

UniProtKB/TrEMBL

B8ZZW2
XM_054344674.1 → XP_054200649.1 GRIP and coiled-coil domain-containing protein 2 isoform X6

UniProtKB/TrEMBL

B8ZZW2