BTNL2 - butyrophilin like 2 Gene

Homo sapiens

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

Gene ID: 56244 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01676	BTNL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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