GCC2 (GRIP and coiled-coil domain containing 2) - Rat Genome Database
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Gene: GCC2 (GRIP and coiled-coil domain containing 2) Homo sapiens
Analyze
Symbol: GCC2
Name: GRIP and coiled-coil domain containing 2
RGD ID: 1605713
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Involved in several processes, including microtubule cytoskeleton organization; protein localization to organelle; and retrograde transport, endosome to Golgi. Localizes to nucleoplasm and trans-Golgi network.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 185 kDa Golgi coiled-coil protein; CLL-associated antigen KW-11; CTCL tumor antigen se1-1; GCC protein, 185-kD; GCC185; Golgi coiled-coil protein GCC185; GRIP and coiled-coil domain-containing protein 2; KIAA0336; Ran-binding protein 2-like 4; RANBP2L4; REN53; renal carcinoma antigen NY-REN-53
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2108,449,191 - 108,509,415 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2108,448,561 - 108,509,415 (+)EnsemblGRCh38hg38GRCh38
GRCh382108,448,561 - 108,509,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372109,065,577 - 109,125,854 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362108,432,068 - 108,492,286 (+)NCBINCBI36hg18NCBI36
Celera2103,373,681 - 103,433,949 (+)NCBI
Cytogenetic Map2q12.3NCBI
HuRef2102,664,749 - 102,724,917 (+)NCBIHuRef
CHM1_12109,069,859 - 109,130,068 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (TAS)
Golgi apparatus  (IBA,IDA)
membrane  (HDA)
nucleoplasm  (IBA,IDA)
trans-Golgi network  (IDA)

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:9205841   PMID:10508479   PMID:11149944   PMID:12200376   PMID:12446665   PMID:12477932   PMID:12972563   PMID:14702039   PMID:15489334   PMID:15522892   PMID:15654769  
PMID:15815621   PMID:16344560   PMID:16885419   PMID:16964243   PMID:17488291   PMID:17543864   PMID:18029348   PMID:18195106   PMID:18243103   PMID:18946081   PMID:19013454   PMID:19615732  
PMID:19703403   PMID:19946888   PMID:21873635   PMID:21875948   PMID:22159419   PMID:22939629   PMID:25476789   PMID:26167880   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26653856  
PMID:27105913   PMID:27173435   PMID:27545878   PMID:28514442   PMID:28611215   PMID:28805822   PMID:29568061   PMID:29987050   PMID:30021884   PMID:31343991   PMID:31840180   PMID:31980649  
PMID:32353859   PMID:33060197  


Genomics

Comparative Map Data
GCC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2108,449,191 - 108,509,415 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2108,448,561 - 108,509,415 (+)EnsemblGRCh38hg38GRCh38
GRCh382108,448,561 - 108,509,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372109,065,577 - 109,125,854 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362108,432,068 - 108,492,286 (+)NCBINCBI36hg18NCBI36
Celera2103,373,681 - 103,433,949 (+)NCBI
Cytogenetic Map2q12.3NCBI
HuRef2102,664,749 - 102,724,917 (+)NCBIHuRef
CHM1_12109,069,859 - 109,130,068 (+)NCBICHM1_1
Gcc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391058,091,217 - 58,141,421 (+)NCBIGRCm39mm39
GRCm381058,255,408 - 58,305,599 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1058,255,497 - 58,305,599 (+)EnsemblGRCm38mm10GRCm38
MGSCv371057,718,274 - 57,768,340 (+)NCBIGRCm37mm9NCBIm37
MGSCv361057,650,883 - 57,700,949 (+)NCBImm8
Celera1058,993,423 - 59,043,634 (+)NCBICelera
Cytogenetic Map10B4NCBI
Gcc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02027,832,960 - 27,879,764 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2027,832,932 - 27,879,759 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02029,653,397 - 29,699,347 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42037,472,178 - 37,518,324 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12037,487,402 - 37,531,803 (-)NCBI
Celera2027,699,422 - 27,745,448 (+)NCBICelera
Cytogenetic Map20q11NCBI
Gcc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547012,011,708 - 12,055,907 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547012,011,606 - 12,053,625 (+)NCBIChiLan1.0ChiLan1.0
GCC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A109,682,051 - 109,735,166 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A109,682,552 - 109,734,682 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A94,659,117 - 94,721,491 (+)NCBIMhudiblu_PPA_v0panPan3
GCC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1035,379,030 - 35,431,457 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11035,379,055 - 35,431,500 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Gcc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493682913,235 - 61,556 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GCC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl347,718,340 - 47,759,000 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1347,718,251 - 47,759,060 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2349,887,515 - 49,928,295 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GCC2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11411,962,757 - 12,026,045 (+)NCBI
ChlSab1.1 Ensembl1411,963,689 - 12,027,503 (+)Ensembl
Gcc2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474911,670,493 - 11,709,830 (+)NCBI

Position Markers
RH11823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,125,609 - 109,125,811UniSTSGRCh37
GRCh372107,019,905 - 107,020,102UniSTSGRCh37
Build 362106,386,337 - 106,386,534RGDNCBI36
Celera2103,433,704 - 103,433,906RGD
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map2q13UniSTS
HuRef2102,724,672 - 102,724,874UniSTS
GeneMap99-GB4 RH Map2384.5UniSTS
NCBI RH Map2802.0UniSTS
RH69881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,089,455 - 109,089,692UniSTSGRCh37
Build 362108,455,887 - 108,456,124RGDNCBI36
Celera2103,397,557 - 103,397,794RGD
Cytogenetic Map2q12.3UniSTS
HuRef2102,688,561 - 102,688,798UniSTS
GeneMap99-GB4 RH Map2386.95UniSTS
D2S2897  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q13UniSTS
Cytogenetic Map2q12.3UniSTS
D2S1552E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q13UniSTS
Cytogenetic Map2q12.3UniSTS
RH35930  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q13UniSTS
Cytogenetic Map2q12.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3468
Count of miRNA genes:1134
Interacting mature miRNAs:1419
Transcripts:ENST00000309863, ENST00000393321, ENST00000409821, ENST00000409896, ENST00000447558, ENST00000462897, ENST00000467566, ENST00000478207, ENST00000480863, ENST00000481729, ENST00000482325, ENST00000485546, ENST00000492785
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1576 1097 1106 184 911 62 2071 592 1668 197 1142 1360 130 1 678 1312 5 2
Low 863 1867 618 438 1017 401 2284 1601 2066 222 318 253 44 526 1476 1
Below cutoff 27 2 2 23 2 2 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_181453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_028063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001739078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001739079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001739080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_923067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA171957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB002334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF273042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF432211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI084646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM694019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA865539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000309863   ⟹   ENSP00000307939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,449,206 - 108,509,415 (+)Ensembl
RefSeq Acc Id: ENST00000393321   ⟹   ENSP00000376996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,481,697 - 108,490,135 (+)Ensembl
RefSeq Acc Id: ENST00000409821   ⟹   ENSP00000387350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,449,231 - 108,470,062 (+)Ensembl
RefSeq Acc Id: ENST00000409896   ⟹   ENSP00000386997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,449,884 - 108,472,899 (+)Ensembl
RefSeq Acc Id: ENST00000447558   ⟹   ENSP00000392470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,475,562 - 108,483,156 (+)Ensembl
RefSeq Acc Id: ENST00000462897   ⟹   ENSP00000475234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,471,814 - 108,475,394 (+)Ensembl
RefSeq Acc Id: ENST00000467566
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,449,191 - 108,450,019 (+)Ensembl
RefSeq Acc Id: ENST00000478207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,449,223 - 108,469,456 (+)Ensembl
RefSeq Acc Id: ENST00000480863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,493,301 - 108,509,415 (+)Ensembl
RefSeq Acc Id: ENST00000481729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,483,124 - 108,484,739 (+)Ensembl
RefSeq Acc Id: ENST00000482325   ⟹   ENSP00000419969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,449,240 - 108,509,397 (+)Ensembl
RefSeq Acc Id: ENST00000485546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,469,300 - 108,470,227 (+)Ensembl
RefSeq Acc Id: ENST00000492785   ⟹   ENSP00000475798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,471,845 - 108,473,328 (+)Ensembl
RefSeq Acc Id: NM_181453   ⟹   NP_852118
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,449,206 - 108,509,415 (+)NCBI
GRCh372109,065,577 - 109,125,854 (+)ENTREZGENE
Build 362108,432,068 - 108,492,286 (+)NCBI Archive
HuRef2102,664,749 - 102,724,917 (+)NCBI
CHM1_12109,069,859 - 109,130,068 (+)NCBI
Sequence:
RefSeq Acc Id: NR_028063
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,449,206 - 108,509,415 (+)NCBI
GRCh372109,065,577 - 109,125,854 (+)ENTREZGENE
HuRef2102,664,749 - 102,724,917 (+)NCBI
CHM1_12109,069,859 - 109,130,068 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712870   ⟹   XP_006712933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,448,561 - 108,509,398 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712871   ⟹   XP_006712934
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,449,222 - 108,509,398 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712872   ⟹   XP_006712935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,448,561 - 108,475,397 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011512213   ⟹   XP_011510515
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,451,028 - 108,509,398 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001739078
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,449,209 - 108,509,398 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001739079
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,449,209 - 108,509,398 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001739080
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,449,209 - 108,495,359 (+)NCBI
Sequence:
RefSeq Acc Id: XR_923067
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,449,209 - 108,509,398 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_852118   ⟸   NM_181453
- Sequence:
RefSeq Acc Id: XP_006712934   ⟸   XM_006712871
- Peptide Label: isoform X2
- UniProtKB: Q8IWJ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712933   ⟸   XM_006712870
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006712935   ⟸   XM_006712872
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011510515   ⟸   XM_011512213
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000475234   ⟸   ENST00000462897
RefSeq Acc Id: ENSP00000307939   ⟸   ENST00000309863
RefSeq Acc Id: ENSP00000475798   ⟸   ENST00000492785
RefSeq Acc Id: ENSP00000419969   ⟸   ENST00000482325
RefSeq Acc Id: ENSP00000376996   ⟸   ENST00000393321
RefSeq Acc Id: ENSP00000392470   ⟸   ENST00000447558
RefSeq Acc Id: ENSP00000387350   ⟸   ENST00000409821
RefSeq Acc Id: ENSP00000386997   ⟸   ENST00000409896
Protein Domains
GRIP

Promoters
RGD ID:6797240
Promoter ID:HG_KWN:34340
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000393321,   ENST00000409821,   OTTHUMT00000330142,   OTTHUMT00000330230,   OTTHUMT00000330232,   UC002TED.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362108,431,096 - 108,432,132 (+)MPROMDB
RGD ID:6797244
Promoter ID:HG_KWN:34341
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour
Transcripts:ENST00000409896
Position:
Human AssemblyChrPosition (strand)Source
Build 362108,431,956 - 108,432,456 (+)MPROMDB
RGD ID:6861276
Promoter ID:EPDNEW_H3803
Type:initiation region
Name:GCC2_1
Description:GRIP and coiled-coil domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,449,222 - 108,449,282EPDNEW
RGD ID:6797506
Promoter ID:HG_KWN:34345
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000330234
Position:
Human AssemblyChrPosition (strand)Source
Build 362108,457,211 - 108,457,711 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3 copy number gain See cases [RCV000050836] Chr2:100378510..108472871 [GRCh38]
Chr2:100994972..109089327 [GRCh37]
Chr2:100361404..108455759 [NCBI36]
Chr2:2q11.2-12.3
pathogenic
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 copy number gain See cases [RCV000053141] Chr2:106696282..110223328 [GRCh38]
Chr2:107312738..110980905 [GRCh37]
Chr2:106679170..110338194 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1 copy number loss See cases [RCV000134167] Chr2:107962353..109700179 [GRCh38]
Chr2:108578809..110457756 [GRCh37]
Chr2:107945241..109815045 [NCBI36]
Chr2:2q12.3-13
pathogenic|uncertain significance
GRCh38/hg38 2q12.3(chr2:107924122-108509089)x1 copy number loss See cases [RCV000137577] Chr2:107924122..108509089 [GRCh38]
Chr2:108540578..109125545 [GRCh37]
Chr2:107907010..108491977 [NCBI36]
Chr2:2q12.3
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q12.3(chr2:107924122-108472871)x3 copy number gain See cases [RCV000139122] Chr2:107924122..108472871 [GRCh38]
Chr2:108540578..109089327 [GRCh37]
Chr2:107907010..108455759 [NCBI36]
Chr2:2q12.3
uncertain significance
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 copy number gain See cases [RCV000139569] Chr2:106516472..110576905 [GRCh38]
Chr2:107132928..111334482 [GRCh37]
Chr2:106499360..110857227 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q12.3(chr2:107901810-108472871)x3 copy number gain See cases [RCV000141241] Chr2:107901810..108472871 [GRCh38]
Chr2:108518266..109089327 [GRCh37]
Chr2:107884698..108455759 [NCBI36]
Chr2:2q12.3
uncertain significance
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 copy number gain See cases [RCV000140834] Chr2:106428663..112379067 [GRCh38]
Chr2:107045119..113136644 [GRCh37]
Chr2:106411551..112853115 [NCBI36]
Chr2:2q12.2-14.1
uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 copy number loss See cases [RCV000240053] Chr2:106423310..115054828 [GRCh37]
Chr2:2q12.2-14.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q12.3-13(chr2:108526025-110876776)x3 copy number gain See cases [RCV000446992] Chr2:108526025..110876776 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q12.3(chr2:108513707-109127929)x1 copy number loss See cases [RCV000446455] Chr2:108513707..109127929 [GRCh37]
Chr2:2q12.3
uncertain significance
NM_181453.4(GCC2):c.1070A>G (p.Tyr357Cys) single nucleotide variant Progressive sensorineural hearing impairment [RCV000417118] Chr2:108470399 [GRCh38]
Chr2:109086855 [GRCh37]
Chr2:2q12.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q12.3(chr2:108526025-109127929)x3 copy number gain See cases [RCV000511366] Chr2:108526025..109127929 [GRCh37]
Chr2:2q12.3
uncertain significance
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2q12.3-13(chr2:108534030-110492791)x3 copy number gain See cases [RCV000510943] Chr2:108534030..110492791 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele duplication Neuronopathy, distal hereditary motor, type viia [RCV000534213] Chr2:107988136..108963283 [GRCh38]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss PARP Inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
Single allele duplication not provided [RCV000678012] Chr2:107096423..112235727 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
GRCh37/hg19 2q12.3-13(chr2:108501887-110504318)x3 copy number gain not provided [RCV000682142] Chr2:108501887..110504318 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1 copy number loss not provided [RCV000682152] Chr2:107020782..111365996 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
NM_181453.4(GCC2):c.4045C>G (p.Gln1349Glu) single nucleotide variant not provided [RCV000677283] Chr2:108487813 [GRCh38]
Chr2:109104269 [GRCh37]
Chr2:2q12.3
uncertain significance
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q12.3(chr2:109067508-109094759)x3 copy number gain not provided [RCV000740559] Chr2:109067508..109094759 [GRCh37]
Chr2:2q12.3
benign
GRCh37/hg19 2q12.3-13(chr2:108499809-110504318)x1 copy number loss not provided [RCV001005304] Chr2:108499809..110504318 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
NM_181453.4(GCC2):c.1778C>G (p.Thr593Ser) single nucleotide variant not provided [RCV000973014] Chr2:108471107 [GRCh38]
Chr2:109087563 [GRCh37]
Chr2:2q12.3
benign
NM_181453.4(GCC2):c.4437G>T (p.Pro1479=) single nucleotide variant not provided [RCV000961973] Chr2:108492780 [GRCh38]
Chr2:109109236 [GRCh37]
Chr2:2q12.3
benign
NM_181453.4(GCC2):c.4749A>G (p.Glu1583=) single nucleotide variant not provided [RCV000962854] Chr2:108497076 [GRCh38]
Chr2:109113532 [GRCh37]
Chr2:2q12.3
likely benign
NM_181453.4(GCC2):c.185C>G (p.Pro62Arg) single nucleotide variant not provided [RCV000961972] Chr2:108452435 [GRCh38]
Chr2:109068891 [GRCh37]
Chr2:2q12.3
benign
NM_181453.4(GCC2):c.4587C>T (p.Ala1529=) single nucleotide variant not provided [RCV000905346] Chr2:108495430 [GRCh38]
Chr2:109111886 [GRCh37]
Chr2:2q12.3
likely benign
NC_000002.12:g.(?_107988146)_(108963283_?)del deletion Neuronopathy, distal hereditary motor, type viia [RCV001031168] Chr2:108604602..109579739 [GRCh37]
Chr2:2q12.3
uncertain significance
NM_181453.4(GCC2):c.1029A>G (p.Glu343=) single nucleotide variant not provided [RCV000954234] Chr2:108470358 [GRCh38]
Chr2:109086814 [GRCh37]
Chr2:2q12.3
benign
NM_181453.4(GCC2):c.780A>G (p.Glu260=) single nucleotide variant not provided [RCV000955955] Chr2:108470109 [GRCh38]
Chr2:109086565 [GRCh37]
Chr2:2q12.3
benign
NM_181453.4(GCC2):c.3345+10A>G single nucleotide variant not provided [RCV000955956] Chr2:108482461 [GRCh38]
Chr2:109098917 [GRCh37]
Chr2:2q12.3
benign
NM_181453.4(GCC2):c.3359C>G (p.Thr1120Ser) single nucleotide variant not provided [RCV000889454] Chr2:108483075 [GRCh38]
Chr2:109099531 [GRCh37]
Chr2:2q12.3
benign
NC_000002.12:g.(?_107988146)_(108963283_?)dup duplication Neuronopathy, distal hereditary motor, type viia [RCV001033739] Chr2:108604602..109579739 [GRCh37]
Chr2:2q12.3
uncertain significance
NM_181453.4(GCC2):c.5051G>C (p.Arg1684Pro) single nucleotide variant not provided [RCV001092747] Chr2:108507626 [GRCh38]
Chr2:109124082 [GRCh37]
Chr2:2q12.3
uncertain significance
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1 copy number loss not provided [RCV001259645] Chr2:107029680..113187742 [GRCh37]
Chr2:2q12.2-13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23218 AgrOrtholog
COSMIC GCC2 COSMIC
Ensembl Genes ENSG00000135968 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000307939 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376996 UniProtKB/TrEMBL
  ENSP00000386997 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000387350 UniProtKB/TrEMBL
  ENSP00000392470 UniProtKB/TrEMBL
  ENSP00000419969 UniProtKB/Swiss-Prot
  ENSP00000475234 UniProtKB/TrEMBL
  ENSP00000475798 UniProtKB/TrEMBL
Ensembl Transcript ENST00000309863 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393321 UniProtKB/TrEMBL
  ENST00000409821 UniProtKB/TrEMBL
  ENST00000409896 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000447558 UniProtKB/TrEMBL
  ENST00000462897 UniProtKB/TrEMBL
  ENST00000482325 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000492785 UniProtKB/TrEMBL
GTEx ENSG00000135968 GTEx
HGNC ID HGNC:23218 ENTREZGENE
Human Proteome Map GCC2 Human Proteome Map
InterPro GCC2_Rab_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRIP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9648 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9648 ENTREZGENE
OMIM 612711 OMIM
Pfam GRIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134876902 PharmGKB
PROSITE GRIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Grip UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.436505 ENTREZGENE
  Hs.469630 ENTREZGENE
UniProt A0PJA5_HUMAN UniProtKB/TrEMBL
  B3KR21_HUMAN UniProtKB/TrEMBL
  B8ZZA5_HUMAN UniProtKB/TrEMBL
  B8ZZW2_HUMAN UniProtKB/TrEMBL
  D3DX70_HUMAN UniProtKB/TrEMBL
  GCC2_HUMAN UniProtKB/Swiss-Prot
  H7BYJ9_HUMAN UniProtKB/TrEMBL
  H7C010_HUMAN UniProtKB/TrEMBL
  Q8IWJ2 ENTREZGENE
  U3KPU4_HUMAN UniProtKB/TrEMBL
  U3KQE0_HUMAN UniProtKB/TrEMBL
UniProt Secondary A6H8X8 UniProtKB/Swiss-Prot
  O15045 UniProtKB/Swiss-Prot
  Q4ZG46 UniProtKB/Swiss-Prot
  Q8TDH3 UniProtKB/Swiss-Prot
  Q9H2G8 UniProtKB/Swiss-Prot