SLC35G2

solute carrier family 35 member G2, the group of Solute carrier family 35

Basic information

Region (hg38): 3:136818647-136855888

Previous symbols: [ "TMEM22" ]

Links

ENSG00000168917 ∙ NCBI:80723 ∙ OMIM:617812 ∙ HGNC:28480 ∙ Uniprot:Q8TBE7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• mitochondrial complex I deficiency (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC35G2 gene.

• not_specified (39 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35G2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025246.3. 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				1		1
missense			38			38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35G2	protein_coding	protein_coding	ENST00000446465	1	37246

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0397	0.933	125694	0	50	125744	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.424	195	212	0.918	0.0000103	2704
Missense in Polyphen		78	89.437	0.87212		1120
Synonymous	0.741	64	72.0	0.889	0.00000341	815
Loss of Function	1.91	4	10.8	0.372	5.50e-7	160

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00136	0.00136
Finnish	0.000370	0.000370
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.00136	0.00136
South Asian	0.0000655	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in cell proliferation. {ECO:0000305|PubMed:19148500}.

Recessive Scores

• pRec: 0.104

Intolerance Scores

• rvis_EVS: -0.22
• rvis_percentile_EVS: 37.43

Haploinsufficiency Scores

• pHI: 0.134
• hipred: N
• hipred_score: 0.457
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc35g2

Gene ontology

• Cellular component: Golgi apparatus;plasma membrane;integral component of plasma membrane;integral component of membrane