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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GNG8 | Human | liver disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19784758 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GNG8 | Human | liver disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19784758 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10819326 | PMID:12477932 | PMID:12486123 | PMID:12626323 | PMID:12782285 | PMID:14702039 | PMID:15489334 | PMID:17185339 | PMID:19376773 | PMID:19913121 | PMID:20628086 | PMID:21873635 |
PMID:22940628 | PMID:23773523 | PMID:26002831 | PMID:33961781 |
GNG8 (Homo sapiens - human) |
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Gng8 (Mus musculus - house mouse) |
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Gng8 (Rattus norvegicus - Norway rat) |
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Gng8 (Chinchilla lanigera - long-tailed chinchilla) |
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GNG8 (Pan paniscus - bonobo/pygmy chimpanzee) |
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GNG8 (Canis lupus familiaris - dog) |
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Gng8 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GNG8 (Sus scrofa - pig) |
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GNG8 (Chlorocebus sabaeus - green monkey) |
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Gng8 (Heterocephalus glaber - naked mole-rat) |
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Variants in GNG8
5 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3 | copy number gain | See cases [RCV000050320] | Chr19:46434490..46831000 [GRCh38] Chr19:46937747..47334257 [GRCh37] Chr19:51629587..52026097 [NCBI36] Chr19:19q13.32 |
uncertain significance |
GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1 | copy number loss | See cases [RCV000053976] | Chr19:46458122..47683579 [GRCh38] Chr19:46961379..48186836 [GRCh37] Chr19:51653219..52878648 [NCBI36] Chr19:19q13.32-13.33 |
pathogenic |
GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3 | copy number gain | See cases [RCV000148268] | Chr19:46434490..46831000 [GRCh38] Chr19:46937747..47334257 [GRCh37] Chr19:51629587..52026097 [NCBI36] Chr19:19q13.32 |
uncertain significance |
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 | copy number loss | See cases [RCV000240182] | Chr19:43013365..47241534 [GRCh37] Chr19:19q13.2-13.32 |
pathogenic |
GRCh37/hg19 19q13.32(chr19:46918881-47782258)x3 | copy number gain | See cases [RCV000446734] | Chr19:46918881..47782258 [GRCh37] Chr19:19q13.32 |
uncertain significance |
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1 | copy number loss | See cases [RCV000511362] | Chr19:46404248..48488721 [GRCh37] Chr19:19q13.32-13.33 |
likely pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 | copy number gain | See cases [RCV000136578] | Chr19:44971420..48257402 [GRCh38] Chr19:45474677..48760659 [GRCh37] Chr19:50166517..53452471 [NCBI36] Chr19:19q13.32-13.33 |
pathogenic |
GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1 | copy number loss | See cases [RCV000137832] | Chr19:45387389..46831000 [GRCh38] Chr19:45890647..47334257 [GRCh37] Chr19:50582487..52026097 [NCBI36] Chr19:19q13.32 |
likely pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3 | copy number gain | not provided [RCV001007051] | Chr19:45531056..48174177 [GRCh37] Chr19:19q13.32-13.33 |
uncertain significance |
NC_000019.10:g.(?_46605817)_(46756948_?)dup | duplication | Walker-Warburg congenital muscular dystrophy [RCV001031501] | Chr19:47109074..47260205 [GRCh37] Chr19:19q13.32 |
uncertain significance |
GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536) | copy number gain | not provided [RCV000767770] | Chr19:47036361..48525536 [GRCh37] Chr19:19q13.32-13.33 |
pathogenic |
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 | copy number gain | not provided [RCV001007050] | Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42 |
pathogenic |
NC_000019.9:g.(?_47104692)_(47260195_?)dup | duplication | Long QT syndrome 1 [RCV001918807] | Chr19:47104692..47260195 [GRCh37] Chr19:19q13.32 |
uncertain significance |
GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409) | copy number gain | Coffin-Siris syndrome 12 [RCV003232036] | Chr19:47028919..48185409 [GRCh37] Chr19:19q13.32-13.33 |
likely pathogenic |
NM_033258.2(GNG8):c.82A>G (p.Lys28Glu) | single nucleotide variant | not specified [RCV004278584] | Chr19:46634601 [GRCh38] Chr19:47137858 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_033258.2(GNG8):c.71T>C (p.Ile24Thr) | single nucleotide variant | not specified [RCV004623932] | Chr19:46634612 [GRCh38] Chr19:47137869 [GRCh37] Chr19:19q13.32 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 | copy number gain | not provided [RCV000845733] | Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33 |
pathogenic |
GRCh37/hg19 19q13.32(chr19:46918881-47782258) | copy number gain | not specified [RCV002052687] | Chr19:46918881..47782258 [GRCh37] Chr19:19q13.32 |
uncertain significance |
NM_033258.2(GNG8):c.23T>C (p.Ile8Thr) | single nucleotide variant | not specified [RCV004629897] | Chr19:46634660 [GRCh38] Chr19:47137917 [GRCh37] Chr19:19q13.32 |
uncertain significance |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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880 | 2249 | 1933 | 2170 | 4385 | 1357 | 1874 | 3 | 411 | 1764 | 308 | 1593 | 6073 | 5808 | 40 | 3643 | 732 | 1609 | 1304 | 109 | 1 |
RefSeq Transcripts | NM_033258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_011527524 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027503 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027504 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027505 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439725 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322686 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322687 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322688 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC093503 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF188179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF493875 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK001010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK055324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC095514 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471126 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OU666891 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000300873 ⟹ ENSP00000300873 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000693335 ⟹ ENSP00000508424 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_033258 ⟹ NP_150283 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017027504 ⟹ XP_016882993 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017027505 ⟹ XP_016882994 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047439725 ⟹ XP_047295681 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054322686 ⟹ XP_054178661 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054322687 ⟹ XP_054178662 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054322688 ⟹ XP_054178663 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_150283 | (Get FASTA) | NCBI Sequence Viewer |
XP_016882993 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016882994 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295681 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178661 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178662 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178663 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAF04569 | (Get FASTA) | NCBI Sequence Viewer |
AAH95514 | (Get FASTA) | NCBI Sequence Viewer | |
AAM12589 | (Get FASTA) | NCBI Sequence Viewer | |
CAG9553316 | (Get FASTA) | NCBI Sequence Viewer | |
EAW57434 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000300873 | ||
ENSP00000300873.3 | |||
ENSP00000508424 | |||
ENSP00000508424.1 | |||
GenBank Protein | Q9UK08 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_150283 ⟸ NM_033258 |
- UniProtKB: | Q4VBM5 (UniProtKB/Swiss-Prot), Q9UK08 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016882994 ⟸ XM_017027505 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q4VBM5 (UniProtKB/Swiss-Prot), Q9UK08 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016882993 ⟸ XM_017027504 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q4VBM5 (UniProtKB/Swiss-Prot), Q9UK08 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000300873 ⟸ ENST00000300873 |
Ensembl Acc Id: | ENSP00000508424 ⟸ ENST00000693335 |
RefSeq Acc Id: | XP_047295681 ⟸ XM_047439725 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9UK08 (UniProtKB/Swiss-Prot), Q4VBM5 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054178663 ⟸ XM_054322688 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9UK08 (UniProtKB/Swiss-Prot), Q4VBM5 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054178662 ⟸ XM_054322687 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9UK08 (UniProtKB/Swiss-Prot), Q4VBM5 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054178661 ⟸ XM_054322686 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9UK08 (UniProtKB/Swiss-Prot), Q4VBM5 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9UK08-F1-model_v2 | AlphaFold | Q9UK08 | 1-70 | view protein structure |
RGD ID: | 12914175 | ||||||||
Promoter ID: | EPDNEW_H25999 | ||||||||
Type: | initiation region | ||||||||
Name: | GNG8_1 | ||||||||
Description: | G protein subunit gamma 8 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H26000 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 12914177 | ||||||||
Promoter ID: | EPDNEW_H26000 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | GNG8_2 | ||||||||
Description: | G protein subunit gamma 8 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H25999 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 6795607 | ||||||||
Promoter ID: | HG_KWN:30345 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell_2Hour, Lymphoblastoid | ||||||||
Transcripts: | ENST00000300873 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:19664 | AgrOrtholog |
COSMIC | GNG8 | COSMIC |
Ensembl Genes | ENSG00000167414 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000300873 | ENTREZGENE |
ENST00000300873.5 | UniProtKB/Swiss-Prot | |
ENST00000693335 | ENTREZGENE | |
ENST00000693335.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 4.10.260.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000167414 | GTEx |
HGNC ID | HGNC:19664 | ENTREZGENE |
Human Proteome Map | GNG8 | Human Proteome Map |
InterPro | G-protein_gamma-like_dom | UniProtKB/Swiss-Prot |
GGL_sf | UniProtKB/Swiss-Prot | |
Gprotein-gamma | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:94235 | UniProtKB/Swiss-Prot |
NCBI Gene | 94235 | ENTREZGENE |
PANTHER | PTHR13809 | UniProtKB/Swiss-Prot |
Pfam | G-gamma | UniProtKB/Swiss-Prot |
PharmGKB | PA134921496 | PharmGKB |
PRINTS | GPROTEING | UniProtKB/Swiss-Prot |
PROSITE | G_PROTEIN_GAMMA | UniProtKB/Swiss-Prot |
SMART | G_gamma | UniProtKB/Swiss-Prot |
GGL | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | SSF48670 | UniProtKB/Swiss-Prot |
UniProt | GBG8_HUMAN | UniProtKB/Swiss-Prot |
Q4VBM5 | ENTREZGENE | |
Q9UK08 | ENTREZGENE | |
UniProt Secondary | Q4VBM5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-03-14 | GNG8 | G protein subunit gamma 8 | guanine nucleotide binding protein (G protein), gamma 8 | Symbol and/or name change | 5135510 | APPROVED |