TYROBP transmembrane immune signaling adaptor TYROBP [Homo sapiens (human)] - Gene

Summary

Official Symbol: TYROBPprovided by HGNC
Official Full Name: transmembrane immune signaling adaptor TYROBPprovided by HGNC
Primary source: HGNC:HGNC:12449
See related: Ensembl:ENSG00000011600 MIM:604142; AllianceGenome:HGNC:12449
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: DAP12; KARAP; PLOSL; PLOSL1
Summary: This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]
Expression: Broad expression in bone marrow (RPKM 147.9), spleen (RPKM 124.2) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35904403..35908295, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38450168..38454060, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36395305..36399197, complement)

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 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?

TYROBP as a molecular target in cholangiocarcinoma, renal cancer and abdominal aortic aneurysm.
Title: TYROBP as a molecular target in cholangiocarcinoma, renal cancer and abdominal aortic aneurysm.
MMP9 and TYROBP affect the survival of circulating tumor cells in clear cell renal cell carcinoma by adapting to tumor immune microenvironment.
Title: MMP9 and TYROBP affect the survival of circulating tumor cells in clear cell renal cell carcinoma by adapting to tumor immune microenvironment.
Human early-onset dementia caused by DAP12 deficiency reveals a unique signature of dysregulated microglia.
Title: Human early-onset dementia caused by DAP12 deficiency reveals a unique signature of dysregulated microglia.
TYRO protein tyrosine kinase-binding protein predicts favorable overall survival in osteosarcoma and correlates with antitumor immunity.
Title: TYRO protein tyrosine kinase-binding protein predicts favorable overall survival in osteosarcoma and correlates with antitumor immunity.
The role of SPI1-TYROBP-FCER1G network in oncogenesis and prognosis of osteosarcoma, and its association with immune infiltration.
Title: The role of SPI1-TYROBP-FCER1G network in oncogenesis and prognosis of osteosarcoma, and its association with immune infiltration.
TYROBP, TLR4 and ITGAM regulated macrophages polarization and immune checkpoints expression in osteosarcoma.
Title: TYROBP, TLR4 and ITGAM regulated macrophages polarization and immune checkpoints expression in osteosarcoma.
TYROBP is a potential prognostic biomarker of clear cell renal cell carcinoma.
Title: TYROBP is a potential prognostic biomarker of clear cell renal cell carcinoma.
Non-pathological roles of microglial TREM2/DAP12: TREM2/DAP12 regulates the physiological functions of microglia from development to aging.
Title: Non-pathological roles of microglial TREM2/DAP12: TREM2/DAP12 regulates the physiological functions of microglia from development to aging.
Elevated TYROBP expression predicts poor prognosis and high tumor immune infiltration in patients with low-grade glioma.
Title: Elevated TYROBP expression predicts poor prognosis and high tumor immune infiltration in patients with low-grade glioma.
Identification of TYROBP and FCER1G as Key Genes with Prognostic Value in Clear Cell Renal Cell Carcinoma by Bioinformatics Analysis.
Title: Identification of TYROBP and FCER1G as Key Genes with Prognostic Value in Clear Cell Renal Cell Carcinoma by Bioinformatics Analysis.

Submit: New GeneRIF Correction See all GeneRIFs (60)

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

Associated conditions

Description	Tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MedGen: C4721893 OMIM: 221770 GeneReviews: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy	Compare labs

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

A006G29 (e-PCR)
- UniSTS:39994

D19S844E (e-PCR)
- UniSTS:153967

G32347 (e-PCR)
- UniSTS:116938

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion 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 protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-macromolecule adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables signaling receptor binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in amyloid-beta clearance	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic cell clearance	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular defense response	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to amyloid-beta	IDA Inferred from Direct Assay more info	PubMed
involved_in forebrain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in microglial cell activation involved in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in microglial cell activation involved in immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in myeloid leukocyte activation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of B cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-10 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transforming growth factor beta1 production	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transforming growth factor beta1 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of type I interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in neutrophil activation involved in immune response	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within osteoclast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
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	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 macrophage fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of macrophage fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of microglial cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of microglial cell mediated cytotoxicity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of natural killer cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of osteoclast development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor localization to synapse	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of superoxide anion generation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of tumor necrosis factor production	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to axon injury	ISS Inferred from Sequence or Structural Similarity more info
involved_in semaphorin-plexin signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in stimulatory C-type lectin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in stimulatory killer cell immunoglobulin-like receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IC Inferred by Curator more info	PubMed
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: TYRO protein tyrosine kinase-binding protein

Names: DNAX adaptor protein 12; DNAX-activation protein 12; KAR-associated protein; TYRO protein tyrosine kinase binding protein; killer-activating receptor-associated protein; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

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.

Genomic

NG_009304.1 RefSeqGene

Range

4976..8884

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_607

mRNA and Protein(s)

NM_001173514.2 → NP_001166985.1 TYRO protein tyrosine kinase-binding protein isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) is shorter compared to isoform 1.

Source sequence(s)

BP295666, BP302545, BQ576278

Consensus CDS

CCDS54255.1

UniProtKB/Swiss-Prot

O43914

Related

ENSP00000445332.1, ENST00000544690.6
NM_001173515.2 → NP_001166986.1 TYRO protein tyrosine kinase-binding protein isoform 4 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (4) is shorter compared to isoform 1.

Source sequence(s)

BP305672

Consensus CDS

CCDS59378.1

UniProtKB/TrEMBL

X6RGC9

Related

ENSP00000402371.3, ENST00000424586.7
NM_003332.4 → NP_003323.1 TYRO protein tyrosine kinase-binding protein isoform 1 precursor

See identical proteins and their annotated locations for NP_003323.1

Status: REVIEWED

Description

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

Source sequence(s)

AF019562, BP302545

Consensus CDS

CCDS12482.1

UniProtKB/Swiss-Prot

A8K2X0, F5H389, O43914, Q6FGA5, Q9UMT3

Related

ENSP00000262629.3, ENST00000262629.9
NM_198125.3 → NP_937758.1 TYRO protein tyrosine kinase-binding protein isoform 2 precursor

See identical proteins and their annotated locations for NP_937758.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as 112DAP12, uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (2) is 1 aa shorter compared to isoform 1.

Source sequence(s)

AK290385, BQ576278

Consensus CDS

CCDS46058.1

UniProtKB/Swiss-Prot

O43914

Related

ENSP00000468447.1, ENST00000589517.1

RNA

NR_033390.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame exon and uses an alternate splice junction compared to variant 1, that causes a frameshift. This variant is not thought to be protein-coding.

Source sequence(s)

BI908458, BP302545, BQ576278

Related

ENST00000587837.5