MED29 mediator complex subunit 29 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MED29provided by HGNC
Official Full Name: mediator complex subunit 29provided by HGNC
Primary source: HGNC:HGNC:23074
See related: Ensembl:ENSG00000063322 MIM:612914; AllianceGenome:HGNC:23074
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IXL; MED2
Summary: MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009]
Expression: Ubiquitous expression in brain (RPKM 2.7), thyroid (RPKM 2.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (39391378..39400641)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (42195658..42204924)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (39882018..39891281)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

CHRDL1 inhibits OSCC metastasis via MAPK signaling-mediated inhibition of MED29.
Title: CHRDL1 inhibits OSCC metastasis via MAPK signaling-mediated inhibition of MED29.
IXL is required for cancer cell survival in 19q13-amplified tumors.
Title: Intersex-like (IXL) is a cell survival regulator in pancreatic cancer with 19q13 amplification.
Overexpression of IXL in COS-7 cells inhibits the transcriptional activities of SRE and AP-1, suggesting that the IXL protein may act as a transcriptional suppressor in mitogen-activated protein kinase signaling pathway to mediate cellular functions.
Title: IXL, a new subunit of the mammalian Mediator complex, functions as a transcriptional suppressor.
A mammalian homolog of Drosophila melanogaster transcriptional coactivator intersex is a subunit of the mammalian Mediator complex
Title: A mammalian homolog of Drosophila melanogaster transcriptional coactivator intersex is a subunit of the mammalian Mediator complex.
IXL is a subunit of the mammalian Mediator complex.
Title: A mammalian homolog of Drosophila melanogaster transcriptional coactivator intersex is a subunit of the mammalian Mediator complex.
IXL is a subunit of the mammalian Mediator complex.
Title: A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor 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
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of core mediator complex	IPI Inferred from Physical Interaction 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	IDA Inferred from Direct Assay more info
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 29

Names: intersex-like protein

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_001317770.3 → NP_001304699.2 mediator of RNA polymerase II transcription subunit 29 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice acceptor site in the 3' coding region, which results in a frame-shift compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AC011500, AK124629, AK298014, AY729650, BQ271530

Consensus CDS

CCDS92614.1

UniProtKB/TrEMBL

M0R3F3

Related

ENSP00000472501.2, ENST00000594368.5

Conserved Domains (1) summary

pfam11568
Location:53 → 120

Med29; Mediator complex subunit 29
NM_017592.4 → NP_060062.2 mediator of RNA polymerase II transcription subunit 29 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC011500, AK124629, AY729650, BQ271530

Consensus CDS

CCDS33021.2

UniProtKB/Swiss-Prot

B4DNQ6, M0R2E4, Q5XX09, Q9NTF4, Q9NX70

UniProtKB/TrEMBL

B4DN56

Related

ENSP00000314343.5, ENST00000315588.11

Conserved Domains (1) summary

pfam11568
Location:53 → 187

Med29; Mediator complex subunit 29

RNA

NR_133915.3 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC011500, AK090877, AY729650, BQ271530