GID8

GID complex subunit 8 homolog, the group of CTLH complex

Basic information

Region (hg38): 20:62938147-62948475

Previous symbols: [ "C20orf11" ]

Links

ENSG00000101193 ∙ NCBI:54994 ∙ OMIM:611625 ∙ HGNC:15857 ∙ Uniprot:Q9NWU2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GID8 gene.

• not_specified (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GID8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017896.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			15			15
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	15	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GID8	protein_coding	protein_coding	ENST00000266069	4	7526

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.940	0.0603	125735	0	5	125740	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.47	57	139	0.410	0.00000844	1510
Missense in Polyphen		12	48.856	0.24562		536
Synonymous	-0.270	58	55.4	1.05	0.00000361	419
Loss of Function	3.13	1	13.3	0.0752	8.16e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Acts as a positive regulator of Wnt signaling pathway by promoting beta-catenin (CTNNB1) nuclear accumulation (PubMed:28829046). {ECO:0000269|PubMed:28829046, ECO:0000269|PubMed:29911972}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.2

Haploinsufficiency Scores

• pHI: 0.299
• hipred: Y
• hipred_score: 0.673
• ghis: 0.634

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Low	Low
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Medium	Low	Medium

Mouse Genome Informatics

• Gene name: Gid8

Zebrafish Information Network

• Gene name: gid8a
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: ventralized

Gene ontology

• Biological process: positive regulation of cell population proliferation;Wnt signaling pathway;positive regulation of canonical Wnt signaling pathway
• Cellular component: ubiquitin ligase complex;nucleus;nucleoplasm;cytoplasm;cytosol;cell junction
• Molecular function: protein binding;protein homodimerization activity