BTNL2 Gene Summary [Human]

This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017]

Details

Type
Protein Coding
Official Symbol
BTNL2
Official Name
butyrophilin like 2 [Source:HGNC Symbol;Acc:HGNC:1142]
Ensembl ID
ENSG00000204290
Bio databases IDs NCBI: 56244 Ensembl: ENSG00000204290
Aliases butyrophilin like 2
Synonyms Btl2, BTL-II, BTLN2, BTN7, butyrophilin-like 2, Gm315, HSBLMHC1, NG9, SS2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BTNL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Immunoglobulin V-Type
  • immunoglobulin domain
  • Immunoglobulin like
  • Immunoglobulin I-set domain
  • protein binding
  • receptor binding
  • transmembrane receptor
  • Immunoglobulin V-set domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • primary biliary cirrhosis
  • hypothyroidism
  • colitis
  • insulin-dependent diabetes mellitus
  • weight loss
  • multiple sclerosis
  • Crohn disease
  • osteoarthritis
  • organismal death
  • marginal zone cell lymphoma
regulated by
  • HNF4A
  • Abcb1a
  • Large T Antigen
role in cell
  • expression in
  • production in
  • phosphorylation in
  • proliferation
  • differentiation
  • inactivation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • Extracellular Space

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human BTNL2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of cytokine production
  • T cell receptor signaling pathway

Cellular Component

Where in the cell the gene product is active
  • external side of plasma membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • receptor binding

Gene-Specific Assays for Results You Can Trust

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