MED14

mediator complex subunit 14, the group of Mediator complex

Basic information

Region (hg38): X:40648305-40735858

Previous symbols: [ "CXorf4", "CRSP2" ]

Links

ENSG00000180182 ∙ NCBI:9282 ∙ OMIM:300182 ∙ HGNC:2370 ∙ Uniprot:O60244 ∙ 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 MED14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MED14 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	3	5
missense			42			42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	42	2	3

Variants in MED14

This is a list of pathogenic ClinVar variants found in the MED14 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-40651813-C-T		not specified	Uncertain significance (Feb 07, 2023)
X-40654533-C-T			Benign (Aug 05, 2018)
X-40654997-C-T		Neurodevelopmental disorder	Uncertain significance (Sep 20, 2018)
X-40659263-G-A			Benign (Aug 15, 2018)
X-40659464-A-T		not specified	Uncertain significance (Dec 03, 2024)
X-40659497-C-T			Likely benign (Sep 01, 2022)
X-40662956-C-A			Uncertain significance (Feb 01, 2020)
X-40664308-T-C			Likely benign (May 01, 2023)
X-40664365-G-A			Likely benign (Aug 01, 2022)
X-40666738-T-C		not specified	Uncertain significance (May 17, 2023)
X-40666753-T-C		Intellectual disability	Likely benign (Jan 01, 2019)
X-40675321-C-T		not specified	Uncertain significance (Jan 24, 2024)
X-40679884-A-G		Intellectual disability • not specified	Uncertain significance (Dec 21, 2023)
X-40679958-C-T		not specified	Uncertain significance (Feb 19, 2025)
X-40679983-T-C		not specified	Uncertain significance (Oct 26, 2022)
X-40680065-C-A		not specified	Uncertain significance (Jun 30, 2023)
X-40680789-T-G		not specified	Uncertain significance (Sep 09, 2024)
X-40682614-C-T		not specified	Uncertain significance (Dec 11, 2023)
X-40682647-G-A		not specified	Uncertain significance (Feb 16, 2023)
X-40682666-T-C		not specified	Uncertain significance (Dec 16, 2024)
X-40682702-G-T		not specified	Uncertain significance (Jan 10, 2023)
X-40682735-C-T		not specified	Uncertain significance (Aug 28, 2023)
X-40682874-G-A		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
X-40682946-C-T		not specified	Uncertain significance (Aug 12, 2021)
X-40682989-G-C		not specified	Uncertain significance (Jan 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MED14	protein_coding	protein_coding	ENST00000324817	31	87553

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	3.68e-8	125113	0	1	125114	0.00000400

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.13	252	516	0.488	0.0000398	9404
Missense in Polyphen		33	139.3	0.2369		2495
Synonymous	1.57	154	181	0.852	0.0000134	2944
Loss of Function	6.54	1	51.7	0.0193	0.00000430	875

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)	0.0000122	0.00000883
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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 preinitiation complex with RNA polymerase II and the general transcription factors. {ECO:0000269|PubMed:15340088, ECO:0000269|PubMed:15625066, ECO:0000269|PubMed:16595664}.
• Pathway: Thyroid hormone signaling pathway - Homo sapiens (human);Developmental Biology;Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;Transcriptional regulation of white adipocyte differentiation (Consensus)

Recessive Scores

• pRec: 0.153

Intolerance Scores

• rvis_EVS: -0.36
• rvis_percentile_EVS: 29.31

Haploinsufficiency Scores

• pHI: 0.683
• hipred: Y
• hipred_score: 0.825
• ghis: 0.579

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.783

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Med14
• Phenotype: normal phenotype

Zebrafish Information Network

• Gene name: med14
• Affected structure: melanocyte
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;stem cell population maintenance;intracellular steroid hormone receptor signaling pathway;androgen receptor signaling pathway;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm;membrane;mediator complex;core mediator complex
• Molecular function: transcription coregulator activity;transcription coactivator activity;protein binding;nuclear receptor transcription coactivator activity;signaling receptor activity;vitamin D receptor binding