BTNL2 - butyrophilin like 2 Gene

Also Known as SS2; BTN7; BTL-II; HSBLMHC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56244

About BTNL2

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,393,339-32,407,181 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 93 orthologues, 15 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

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]

BTNL2 Products (1)

mRNA	Protein	Name
NM_001304561.2	NP_001291490.1	butyrophilin-like protein 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BTNL2 Protein Structure

V-set

C2-set_2

V-set

C2-set_2

0
100
200
300
400
455 a.a.

Protein Preferred Names	Protein Names
butyrophilin-like protein 2	butyrophilin-like 2 (MHC class II associated)

Related Diseases

Diseases	Alias
Sarcoidosis 2	Sarcoidosis, Susceptibility To, 2 SS2 Sarcoidosis Besnier-Boeck-Schaumann Disease Boeck Sarcoid
Sarcoidosis 1	Sarcoidosis Boeck Sarcoid Besnier-Boeck-Schaumann Disease SS1 Sarcoidosis, Susceptibility To, 1 Lymphogranulomatosis Hodgkin Disease Boeck'S Disease Boeck'S Sarcoid Schaumann'S Disease Or Syndrome Hutchinson-Boeck Disease Or Syndrome
Ulcerative Colitis	Colitis Gravis Left Sided Ulcerative Colitis Left-Sided Ulcerative Colitis Idiopathic Proctocolitis Inflammatory Bowel Disease, Ulcerative Colitis Type Uc Colitis Ulcerative Colitis, Ulcerative Chronic Left-Sided Ulcerative Colitis Uc - [Ulcerative Colitis] Chronic Ulcerative Enteritis Mucosal Proctocolitis Ulcerative Mucosal Proctocolitis Left Hemicolitis
Colitis
Lupus Erythematosus	Lupus Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus, Systemic Subacute Cutaneous Lupus Le - [Lupus Erythematosus]
Coffin-Siris Syndrome 2	CSS2 Mrd14 Mental Retardation, Autosomal Dominant 14 Autosomal Dominant Mental Retardation 14 Coffin-Siris Syndrome, Type 2
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Hypersensitivity Reaction Type Iv Disease	Immunoproliferative Disorders Immunoproliferative Disease
Epilepsy, Nocturnal Frontal Lobe, 2	Epilepsy, Nocturnal Frontal Lobe, Type 2 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 ENFL2 Nocturnal Frontal Lobe Epilepsy 2
Rheumatoid Arthritis	RA Arthritis, Rheumatoid Rheumatoid Arthritis, Susceptibility To Arthritis Or Polyarthritis, Rheumatic Atrophic Arthritis Rheumatism Arthritis Rheumatoid Polyarthritis
Membranous Nephropathy	Membranous Glomerulonephritis Glomerulonephritis, Membranous Idiopathic Membranous Nephropathy Idiopathic Membranous Glomerulonephritis MBNP Membranous Nephropathy, Susceptibility To Extramembranous Glomerulonephritis Mgn Membranous Gn Primary Membranous Glomerulonephritis Primary Membranous Nephropathy Nephropathy Membranous
Cardiac Sarcoidosis
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Fraser Syndrome 1	Fraser Syndrome Cryptophthalmos With Other Malformations Cryptophthalmos Syndrome FRASRS1 Cryptophthalmos-Syndactyly Syndrome Fraser-Francois Syndrome Cyclopism Meyer-Schwickerath'S Syndrome Ulrich-Feichtiger Syndrome Cryptophthalmos Syndactyly Syndrome Fraser'S Syndrome Meyer-Schwickerath Syndrome Ullrich-Feichtiger Syndrome
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01676	BTNL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20867	Btnl2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27382	Btnl2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	BTNL2	VGNC	VGNC:60208
Bos taurus	BTNL2	VGNC	VGNC:107284
Canis familiaris	BTNL2	VGNC	VGNC:54925
Rattus norvegicus	BTNL2	RGD	RGD:620731
Mus musculus	BTNL2	MGD	MGI:1859549
Others	BTNL2	NCBI