MED22 mediator complex subunit 22 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MED22provided by HGNC
Official Full Name: mediator complex subunit 22provided by HGNC
Primary source: HGNC:HGNC:11477
See related: Ensembl:ENSG00000148297 MIM:185641; AllianceGenome:HGNC:11477
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SRB6; MED24; SURF5; surf-5
Summary: This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in ovary (RPKM 8.5), thyroid (RPKM 8.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (133338312..133348131, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (145552239..145562071, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (136205149..136214986, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inactivation of mediator complex protein 22 in podocytes results in intracellular vacuole formation, podocyte loss and premature death.
Title: Inactivation of mediator complex protein 22 in podocytes results in intracellular vacuole formation, podocyte loss and premature death.
functional communications between the MED1 subunit and the MED24-containing submodule that mediate estrogen receptor functions and growth of both normal mammary epithelial cells and breast carcinoma cells.
Title: Mediator subunits MED1 and MED24 cooperatively contribute to pubertal mammary gland development and growth of breast carcinoma cells.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Hu-Surf5 encodes three different transcripts, Surf-5a, Surf-5b, and Surf-5c, which result from alternative splicing.
Title: The human homologue of the mouse Surf5 gene encodes multiple alternatively spliced transcripts.
This publication also contains human sequence.
Title: Surf5: a gene in the tightly clustered mouse surfeit locus is highly conserved and transcribed divergently from the rpL7A (Surf3) gene.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S1772 (e-PCR)
- UniSTS:20487

D11S2560 (e-PCR)
- UniSTS:37928

D9S1310 (e-PCR)
- UniSTS:153145

D11S4359 (e-PCR)
- UniSTS:154697

RH91137 (e-PCR)
- UniSTS:86112

D15S1477 (e-PCR)
- UniSTS:474482

RH66808 (e-PCR)
- UniSTS:70782

RP_L7A (e-PCR)
- UniSTS:19666

SURF5_8662 (e-PCR)
- UniSTS:468730

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA polymerase II preinitiation complex assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription elongation by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription initiation by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of core mediator complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
part_of mediator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of mediator complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mediator of RNA polymerase II transcription subunit 22

Names: surfeit locus protein 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_133640.5 → NP_598395.1 mediator of RNA polymerase II transcription subunit 22 isoform b

See identical proteins and their annotated locations for NP_598395.1

Status: REVIEWED

Description

Transcript Variant: This variant (b) represents the shorter transcript and encodes the longer isoform (b).

Source sequence(s)

AJ224359, AL772161, GD160955, HY154869

Consensus CDS

CCDS6963.1

UniProtKB/Swiss-Prot

B3KW83, B3KWX4, O76072, Q15528, Q5T8U0

Related

ENSP00000342343.5, ENST00000343730.10

Conserved Domains (1) summary

pfam06179
Location:20 → 124

Med22; Surfeit locus protein 5 subunit 22 of Mediator complex
NM_181491.3 → NP_852468.1 mediator of RNA polymerase II transcription subunit 22 isoform c

See identical proteins and their annotated locations for NP_852468.1

Status: REVIEWED

Description

Transcript Variant: This variant (c) differs in the 3' UTR and its transcription extends past a splice site used in variant b, resulting in a distinct 3' coding region. The encoded isoform (c) is shorter and has a distinct C-terminus, compared to isoform b.

Source sequence(s)

AL772161, BC024225, HY154869

Consensus CDS

CCDS6964.1

UniProtKB/TrEMBL

Q5T8T8

Related

ENSP00000478773.1, ENST00000610888.4

Conserved Domains (1) summary

pfam06179
Location:20 → 124

Med22; Surfeit locus protein 5 subunit 22 of Mediator complex

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

133338312..133348131 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_009646201.1 Reference GRCh38.p14 PATCHES

Range

164406..174225 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

145552239..145562071 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_006752.4: Suppressed sequence

Description

NM_006752.4: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.