MED26

mediator complex subunit 26, the group of Mediator complex

Basic information

Region (hg38): 19:16574907-16629062

Previous symbols: [ "CRSP7" ]

Links

ENSG00000105085 ∙ NCBI:9441 ∙ OMIM:605043 ∙ HGNC:2376 ∙ Uniprot:O95402 ∙ 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 MED26 gene.

• not_specified (97 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MED26 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004831.5. 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			93	5		98
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	93	5	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MED26	protein_coding	protein_coding	ENST00000263390	3	54156

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.882	0.118	125579	0	169	125748	0.000672

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.13	339	403	0.842	0.0000282	3840
Missense in Polyphen		80	114.91	0.6962		1073
Synonymous	-1.12	203	184	1.11	0.0000137	1284
Loss of Function	3.54	3	20.2	0.149	0.00000121	197

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00109	0.00109
East Asian	0.0000563	0.0000544
Finnish	0.00282	0.00282
European (Non-Finnish)	0.000774	0.000774
Middle Eastern	0.0000563	0.0000544
South Asian	0.00	0.00
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors.
• Pathway: Developmental Biology;Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;Transcriptional regulation of white adipocyte differentiation (Consensus)

Intolerance Scores

• rvis_EVS: -1.22
• rvis_percentile_EVS: 5.6

Haploinsufficiency Scores

• pHI: 0.375
• hipred: Y
• hipred_score: 0.519
• ghis: 0.509

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.675

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Med26

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;positive regulation of gene expression;positive regulation of nucleic acid-templated transcription
• Cellular component: nucleoplasm;mediator complex;core mediator complex
• Molecular function: transcription coregulator activity;transcription coactivator activity;protein binding