MYD88 MYD88 innate immune signal transduction adaptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYD88provided by HGNC
Official Full Name: MYD88 innate immune signal transduction adaptorprovided by HGNC
Primary source: HGNC:HGNC:7562
See related: Ensembl:ENSG00000172936 MIM:602170; AllianceGenome:HGNC:7562
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: WM1; IMD68; MYD88D
Summary: This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Expression: Ubiquitous expression in appendix (RPKM 32.5), bone marrow (RPKM 32.2) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3p22.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (38138661..38143022)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (38144330..38148691)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (38180152..38184513)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Suppression of MALAT1 promotes human synovial mesenchymal stem cells enhance chondrogenic differentiation and prevent osteoarthritis of the knee in a rat model via regulating miR-212-5p/MyD88 axis.
Title: Suppression of MALAT1 promotes human synovial mesenchymal stem cells enhance chondrogenic differentiation and prevent osteoarthritis of the knee in a rat model via regulating miR-212-5p/MyD88 axis.
Clinical, biological, electrophysiological and therapeutic profile of patients with anti-MAG neuropathy according to MYD88[L265P] and CXCR4 mutations and underlying haemopathy.
Title: Clinical, biological, electrophysiological and therapeutic profile of patients with anti-MAG neuropathy according to MYD88(L265P) and CXCR4 mutations and underlying haemopathy.
The impact of MYD88 and PIM1 in mature large B-cell non-Hodgkin lymphomas: Defining element of their evolution and prognosis.
Title: The impact of MYD88 and PIM1 in mature large B-cell non-Hodgkin lymphomas: Defining element of their evolution and prognosis.
Role of the MyD88 Dependent Pathway in Degenerative Disc Disease.
Title: Role of the MyD88 Dependent Pathway in Degenerative Disc Disease.
Thalidomide Alleviates Apoptosis, Oxidative Damage and Inflammation Induced by Pemphigus Vulgaris IgG in HaCat Cells and Neonatal Mice Through MyD88.
Title: Thalidomide Alleviates Apoptosis, Oxidative Damage and Inflammation Induced by Pemphigus Vulgaris IgG in HaCat Cells and Neonatal Mice Through MyD88.
Paralog-specific signaling by IRAK1/4 maintains MyD88-independent functions in MDS/AML.
Title: Paralog-specific signaling by IRAK1/4 maintains MyD88-independent functions in MDS/AML.
MYD88 L265P mutation in neurologic autoimmunity without evidence of malignancy.
Title: MYD88 L265P mutation in neurologic autoimmunity without evidence of malignancy.
[Association of gene polymorphisms of MyD88 and TICAM1 and their interactions with community-acquired pneumonia in children].
Title: [Association of gene polymorphisms of MyD88 and TICAM1 and their interactions with community-acquired pneumonia in children].
The oncogenic human B-cell lymphoma MYD88 L265P mutation genocopies activation by phosphorylation at the Toll/interleukin-1 receptor (TIR) domain.
Title: The oncogenic human B-cell lymphoma MYD88 L265P mutation genocopies activation by phosphorylation at the Toll/interleukin-1 receptor (TIR) domain.
The Prevalence of MYD88 L265P and TNFAIP3 Mutations and Their Correlations with Clinico-Hematological Profile in Egyptian Patients with Diffuse Large B Cell Lymphoma.
Title: The Prevalence of MYD88 L265P and TNFAIP3 Mutations and Their Correlations with Clinico-Hematological Profile in Egyptian Patients with Diffuse Large B Cell Lymphoma.

Submit: New GeneRIF Correction See all GeneRIFs (456)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Macroglobulinemia, Waldenstrom, 1 MedGen: C1835192 OMIM: 153600 GeneReviews: Not available	Compare labs
Pyogenic bacterial infections due to MyD88 deficiency MedGen: C2677092 OMIM: 612260 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr-induced IL-6 production depends on the activation of NFkappaB and the involvement of C/EBP-beta, TLR4, and MyD88	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP-dependent histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables TIR domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables Toll binding	IEA Inferred from Electronic Annotation more info
enables Toll-like receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables death receptor binding	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables interleukin-1 receptor binding	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in 3'-UTR-mediated mRNA stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in JNK cascade	IEA Inferred from Electronic Annotation more info
involved_in MyD88-dependent toll-like receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Toll signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to lipopolysaccharide	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to oxidised low-density lipoprotein particle stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in defense response to Gram-positive bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-positive bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to protozoan	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of endothelial intestinal barrier	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in immunoglobulin mediated immune response	IEA Inferred from Electronic Annotation more info
involved_in induced systemic resistance	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in interleukin-1-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-33-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in leukocyte activation involved in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in lipopolysaccharide-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in microglia differentiation	IEA Inferred from Electronic Annotation more info
involved_in neutrophil activation involved in immune response	IEA Inferred from Electronic Annotation more info
involved_in neutrophil-mediated killing of bacterium	IEA Inferred from Electronic Annotation more info
involved_in phagocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of JNK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of NLRP3 inflammasome complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of chemokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytokine production involved in inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine production involved in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-17 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-23 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-6 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-8 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of lymphocyte proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of macrophage cytokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of type I interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of chemokine (C-X-C motif) ligand 1 production	IEA Inferred from Electronic Annotation more info
involved_in regulation of chemokine (C-X-C motif) ligand 2 production	IEA Inferred from Electronic Annotation more info
involved_in regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neutrophil migration	IEA Inferred from Electronic Annotation more info
involved_in response to amine	IEA Inferred from Electronic Annotation more info
involved_in response to amino acid	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to interleukin-1	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to molecule of fungal origin	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to peptidoglycan	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in skin development	IEA Inferred from Electronic Annotation more info
involved_in toll-like receptor 4 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in toll-like receptor 4 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in toll-like receptor 8 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in type I interferon-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome membrane	TAS Traceable Author Statement more info
is_active_in extrinsic component of cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in extrinsic component of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: myeloid differentiation primary response protein MyD88

Names: TLR adaptor MYD88; mutant myeloid differentiation primary response 88; myeloid differentiation primary response 88; myeloid differentiation primary response gene (88)

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_016964.1 RefSeqGene

Range

5001..9545

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_157

mRNA and Protein(s)

NM_001172566.2 → NP_001166037.2 myeloid differentiation primary response protein MyD88 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two exons in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK298666, AP006309, BC013589, DA040090

Consensus CDS

CCDS54568.2

UniProtKB/TrEMBL

A0A3B3ITY3

Related

ENSP00000497991.2, ENST00000650112.2

Conserved Domains (1) summary

cd08312
Location:29 → 106

Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88
NM_001172567.2 → NP_001166038.2 myeloid differentiation primary response protein MyD88 isoform 1

Status: REVIEWED

Description

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

Source sequence(s)

AK296570, AL832906, AP006309

Consensus CDS

CCDS54565.2

UniProtKB/TrEMBL

B4E3D6

Related

ENSP00000391753.3, ENST00000421516.3

Conserved Domains (2) summary

smart00255
Location:160 → 304

TIR; Toll - interleukin 1 - resistance

cd08312
Location:29 → 106

Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88
NM_001172568.2 → NP_001166039.2 myeloid differentiation primary response protein MyD88 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1.

Source sequence(s)

AK296570, AP006309, BC013589

Consensus CDS

CCDS54567.2

UniProtKB/TrEMBL

A0A0A0MSI9, A0A0A0MST0

Related

ENSP00000401399.4, ENST00000417037.8

Conserved Domains (2) summary

smart00255
Location:115 → 251

TIR; Toll - interleukin 1 - resistance

cd08312
Location:29 → 106

Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88
NM_001172569.3 → NP_001166040.2 myeloid differentiation primary response protein MyD88 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK298666, AP006309, BC013589

Consensus CDS

CCDS54566.2

UniProtKB/TrEMBL

A0A3F2YP85

Related

ENSP00000499012.2, ENST00000651800.2

Conserved Domains (1) summary

cd08312
Location:29 → 106

Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88
NM_001365876.1 → NP_001352805.1 myeloid differentiation primary response protein MyD88 isoform 6

Status: REVIEWED

Source sequence(s)

AP006309

Consensus CDS

CCDS93244.1

UniProtKB/TrEMBL

A0A494C0J8

Related

ENSP00000498576.1, ENST00000652213.1

Conserved Domains (2) summary

cd08312
Location:29 → 106

Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88

cl23749
Location:160 → 207

TIR_2; TIR domain
NM_001365877.1 → NP_001352806.1 myeloid differentiation primary response protein MyD88 isoform 7

Status: REVIEWED

Source sequence(s)

AP006309

UniProtKB/TrEMBL

A0A8V8TP38

Related

ENSP00000514121.1, ENST00000699086.1

Conserved Domains (2) summary

cd08312
Location:29 → 106

Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88

cl23749
Location:115 → 162

TIR_2; TIR domain
NM_001374787.1 → NP_001361716.1 myeloid differentiation primary response protein MyD88 isoform 8

Status: REVIEWED

Source sequence(s)

AP006309

UniProtKB/TrEMBL

A0A3F2YP85

Conserved Domains (2) summary

cd08312
Location:29 → 106

Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88

cl23749
Location:160 → 217

TIR_2; TIR domain
NM_002468.5 → NP_002459.3 myeloid differentiation primary response protein MyD88 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

BC013589, BP242808, BP339466

Consensus CDS

CCDS2674.3

UniProtKB/Swiss-Prot

B4DKH8, B4DKU4, B4DQ60, B4DQ72, J3KPU4, J3KQ87, J3KQJ6, P78397, Q53XS7, Q99836

UniProtKB/TrEMBL

B4E3D6

Related

ENSP00000498360.2, ENST00000650905.2

Conserved Domains (2) summary

smart00255
Location:160 → 296

TIR; Toll - interleukin 1 - resistance

cd08312
Location:29 → 106

Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

38138661..38143022

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

38144330..38148691

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001374788.1: Suppressed sequence

Description

NM_001374788.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
NR_164663.1: Suppressed sequence

Description

NR_164663.1: This RefSeq was removed because currently there is insufficient support for the transcript.