BTNL2 (butyrophilin like 2) - Rat Genome Database

Name: BTNL2
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: BTNL2 (butyrophilin like 2) Homo sapiens

Analyze

Symbol:

BTNL2

Name:

butyrophilin like 2

RGD ID:

1353557

HGNC Page

HGNC:1142

Description:

Predicted to enable signaling receptor binding activity. Predicted to be involved in T cell receptor signaling pathway and regulation of cytokine production. Predicted to act upstream of or within negative regulation of T cell receptor signaling pathway; positive regulation of T cell proliferation; and positive regulation of interleukin-2 production. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. Implicated in several diseases, including Kawasaki disease; autoimmune disease (multiple); berylliosis; coronary artery disease; and sarcoidosis.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

BTL-II; BTN7; butyrophilin-like 2 (MHC class II associated); butyrophilin-like protein 2; HSBLMHC1; SS2; truncated BTNL2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Btnl2 (butyrophilin-like 2)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OrthoDB, Panther, PhylomeDB
Rattus norvegicus (Norway rat):	Btnl2 (butyrophilin-like 2)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Btnl2 (butyrophilin like 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	BTNL2 (butyrophilin like 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	BTNL2 (butyrophilin like 2)	HGNC	HomoloGene, Inparanoid, NCBI, OrthoDB, Panther
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Btnl2 (butyrophilin like 2)	NCBI	Ortholog
Sus scrofa (pig):	BTNL2 (butyrophilin like 2)	HGNC	Ensembl, NCBI, OMA, OrthoDB
Other homologs ²
Canis lupus familiaris (dog):	LOC481728 (butyrophilin-like protein 1)	HGNC	EggNOG
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Btnl2 (butyrophilin-like 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Btnl2 (butyrophilin-like 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	btn2a1	Alliance	DIOPT (Ensembl Compara\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	btnl8	Alliance	DIOPT (OrthoInspector\|PANTHER)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	32,393,339 - 32,407,181 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	32,393,339 - 32,407,181 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	32,361,116 - 32,374,958 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	32,470,491 - 32,482,878 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	32,470,490 - 32,482,878	NCBI
Celera	6	33,929,258 - 33,941,628 (-)	NCBI		Celera
Cytogenetic Map	6	p21.32	NCBI
HuRef	6	32,116,435 - 32,128,672 (-)	NCBI		HuRef
CHM1_1	6	32,364,981 - 32,377,368 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	32,246,262 - 32,260,103 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

berylliosis (EXP,IAGP)

coronary artery disease (IAGP)

Graves' disease (IAGP)

Kawasaki disease (IAGP)

proteasome-associated autoinflammatory syndrome 1 (IAGP)

rheumatoid arthritis (IAGP)

sarcoidosis (EXP,IAGP)

tuberculosis (IAGP)

ulcerative colitis (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1-naphthyl isothiocyanate (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (ISO)

all-trans-retinoic acid (EXP)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

buta-1,3-diene (ISO)

CGP 52608 (EXP)

dexamethasone (EXP)

endosulfan (ISO)

epoxiconazole (ISO)

folic acid (ISO)

fulvestrant (EXP)

indometacin (EXP)

nickel atom (ISO)

sodium arsenite (ISO)

trichloroethene (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

negative regulation of T cell receptor signaling pathway (ISO)

positive regulation of interleukin-2 production (ISO)

positive regulation of T cell proliferation (ISO)

regulation of cytokine production (IBA,IEA)

T cell receptor signaling pathway (IBA,IEA)

Cellular Component

external side of plasma membrane (IBA,IEA)

membrane (IEA)

plasma membrane (TAS)

Molecular Function

protein binding (IPI)

signaling receptor binding (IBA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal cardiac ventricular function (IAGP)

Abnormal cerebrospinal fluid morphology (IAGP)

Abnormal conjunctiva morphology (IAGP)

Abnormal liver parenchyma morphology (IAGP)

Abnormal lung morphology (IAGP)

Abnormal lymph node morphology (IAGP)

Abnormal nasal mucosa morphology (IAGP)

Abnormal pleura morphology (IAGP)

Abnormal pulmonary interstitial morphology (IAGP)

Abnormal reproductive system morphology (IAGP)

Abnormal skin morphology (IAGP)

Abnormality of the adrenal glands (IAGP)

Abnormality of the gastrointestinal tract (IAGP)

Abnormality of the musculature (IAGP)

Adult onset (IAGP)

Alopecia (IAGP)

Anemia (IAGP)

Arrhythmia (IAGP)

Autosomal dominant inheritance (IAGP)

Blindness (IAGP)

Bone cyst (IAGP)

Bronchiectasis (IAGP)

Cataract (IAGP)

Chest pain (IAGP)

Chylothorax (IAGP)

Clubbing (IAGP)

Cough (IAGP)

Dacryocystitis (IAGP)

Decreased liver function (IAGP)

Diabetes insipidus (IAGP)

Dyspnea (IAGP)

Elevated bronchoalveolar lavage fluid lymphocyte proportion (IAGP)

Emphysema (IAGP)

Enlarged lacrimal glands (IAGP)

Enlargement of parotid gland (IAGP)

Eosinophilia (IAGP)

Erythema nodosum (IAGP)

Facial palsy (IAGP)

Fatigue (IAGP)

Fever (IAGP)

Glaucoma (IAGP)

Heart block (IAGP)

Hemolytic anemia (IAGP)

Hemoptysis (IAGP)

Hepatic failure (IAGP)

Hepatomegaly (IAGP)

Hypercalcemia (IAGP)

Hypercalciuria (IAGP)

Hyperpigmentation of the skin (IAGP)

Hyperthyroidism (IAGP)

Hypopigmentation of the skin (IAGP)

Hypothermia (IAGP)

Hypothyroidism (IAGP)

Hypoxemia (IAGP)

Increased CSF protein concentration (IAGP)

Increased T cell count (IAGP)

Joint swelling (IAGP)

Keratoconjunctivitis sicca (IAGP)

Leukopenia (IAGP)

Lymphadenopathy (IAGP)

Maculopapular exanthema (IAGP)

Mediastinal lymphadenopathy (IAGP)

Nephrocalcinosis (IAGP)

Nephrolithiasis (IAGP)

Parotitis (IAGP)

Peripheral neuropathy (IAGP)

Pleural effusion (IAGP)

Pneumothorax (IAGP)

Portal hypertension (IAGP)

Proximal muscle weakness (IAGP)

Pulmonary arterial hypertension (IAGP)

Pulmonary fibrosis (IAGP)

Pulmonary infiltrates (IAGP)

Renal insufficiency (IAGP)

Restrictive ventilatory defect (IAGP)

Scarring (IAGP)

Skin nodule (IAGP)

Skin plaque (IAGP)

Splenomegaly (IAGP)

Subcutaneous nodule (IAGP)

Thrombocytopenia (IAGP)

Tubulointerstitial nephritis (IAGP)

Upper airway obstruction (IAGP)

Uveitis (IAGP)

Ventricular tachycardia (IAGP)

Weight loss (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Genetic analysis in young-age-of-onset Graves' disease reveals new susceptibility loci.	Brown RS, etal., J Clin Endocrinol Metab. 2014 Jul;99(7):E1387-91. doi: 10.1210/jc.2013-4358. Epub 2014 Mar 31.
2.	BTNL2 gene polymorphisms may be associated with susceptibility to Kawasaki disease and formation of coronary artery lesions in Taiwanese children.	Hsueh KC, etal., Eur J Pediatr. 2010 Jun;169(6):713-9. doi: 10.1007/s00431-009-1099-5. Epub 2009 Nov 1.
3.	Analysis of the association between BTNL2 polymorphism and tuberculosis in Chinese Han population.	Lian Y, etal., Infect Genet Evol. 2010 May;10(4):517-21. doi: 10.1016/j.meegid.2010.02.006. Epub 2010 Feb 20.
4.	Exome sequencing identifies novel rheumatoid arthritis-susceptible variants in the BTNL2.	Mitsunaga S, etal., J Hum Genet. 2013 Apr;58(4):210-5. doi: 10.1038/jhg.2013.2. Epub 2013 Jan 31.
5.	Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population.	Moller M, etal., Microbes Infect. 2007 Apr;9(4):522-8. Epub 2007 Jan 27.
6.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
7.	Confirmation of the novel association at the BTNL2 locus with ulcerative colitis.	Pathan S, etal., Tissue Antigens. 2009 Oct;74(4):322-9. doi: 10.1111/j.1399-0039.2009.01314.x. Epub 2009 Jul 29.
8.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
10.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11.	BTNL2 allele associations with chronic beryllium disease in HLA-DPB1*Glu69-negative individuals.	Sato H, etal., Tissue Antigens. 2007 Dec;70(6):480-6. Epub 2007 Oct 8.
12.	Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles.	Suzuki H, etal., Invest Ophthalmol Vis Sci. 2012 Oct 11;53(11):7109-15. doi: 10.1167/iovs.12-10491.

Additional References at PubMed

PMID:10803852	PMID:12477932	PMID:15516930	PMID:15735647	PMID:16080124	PMID:16321988	PMID:16690410	PMID:16751379	PMID:16984233	PMID:17170388	PMID:17237401	PMID:17493147
PMID:17610417	PMID:17661910	PMID:18836448	PMID:18987644	PMID:19050377	PMID:19116923	PMID:19122664	PMID:19140834	PMID:19143814	PMID:19287509	PMID:19458352	PMID:19760754
PMID:19851445	PMID:19861958	PMID:19915573	PMID:19936222	PMID:20041166	PMID:20237496	PMID:20305777	PMID:20378664	PMID:20410501	PMID:20453000	PMID:20560297	PMID:20587610
PMID:20691797	PMID:20935629	PMID:21072187	PMID:21256912	PMID:21297633	PMID:21323541	PMID:21326295	PMID:21410903	PMID:21804548	PMID:21853121	PMID:21873635	PMID:22071774
PMID:22751097	PMID:22797724	PMID:22936702	PMID:23017494	PMID:23028341	PMID:23028483	PMID:23321320	PMID:23472185	PMID:23535732	PMID:23833122	PMID:23850713	PMID:23904553
PMID:24282030	PMID:24449572	PMID:24664813	PMID:24943344	PMID:24962563	PMID:25078641	PMID:25551927	PMID:25569183	PMID:25671699	PMID:25849037	PMID:26164297	PMID:26617759
PMID:26679868	PMID:26783045	PMID:27213287	PMID:27306066	PMID:27472712	PMID:27501781	PMID:27532663	PMID:27533527	PMID:27914482	PMID:27957327	PMID:28025329	PMID:28469621
PMID:28581127	PMID:29242257	PMID:29733354	PMID:30872286	PMID:31605414	PMID:31624234	PMID:33022050	PMID:33961781	PMID:34732716	PMID:34871226	PMID:35017553

Genomics

Comparative Map Data

BTNL2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	32,393,339 - 32,407,181 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	32,393,339 - 32,407,181 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	32,361,116 - 32,374,958 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	32,470,491 - 32,482,878 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	32,470,490 - 32,482,878	NCBI
Celera	6	33,929,258 - 33,941,628 (-)	NCBI		Celera
Cytogenetic Map	6	p21.32	NCBI
HuRef	6	32,116,435 - 32,128,672 (-)	NCBI		HuRef
CHM1_1	6	32,364,981 - 32,377,368 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	32,246,262 - 32,260,103 (-)	NCBI		T2T-CHM13v2.0

Btnl2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	34,573,763 - 34,588,466 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	34,573,796 - 34,588,469 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	34,354,789 - 34,369,492 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	34,354,822 - 34,369,495 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	34,491,767 - 34,506,437 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	33,962,403 - 33,977,115 (+)	NCBI		MGSCv36	mm8
Celera	17	37,117,517 - 37,137,992 (+)	NCBI		Celera
Cytogenetic Map	17	B1	NCBI
cM Map	17	17.98	NCBI

Btnl2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	4,492,100 - 4,505,932 (-)	NCBI		GRCr8
mRatBN7.2	20	4,490,169 - 4,504,002 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	4,489,517 - 4,503,341 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	5,254,364 - 5,265,996 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	4,616,104 - 4,627,736 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	5,088,388 - 5,099,896 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	4,140,184 - 4,156,365 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	4,141,878 - 4,154,978 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	6,221,727 - 6,236,503 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	4,613,726 - 4,625,383 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	4,701,740 - 4,702,792 (+)	NCBI
Celera	20	6,093,476 - 6,105,126 (-)	NCBI		Celera
Cytogenetic Map	20	p12	NCBI

Btnl2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955437	1,083,745 - 1,101,730 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955437	1,084,330 - 1,101,751 (-)	NCBI	ChiLan1.0	ChiLan1.0

BTNL2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	5	46,879,850 - 46,942,392 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	42,844,186 - 42,903,429 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	32,067,223 - 32,126,032 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	32,944,694 - 32,950,097 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

BTNL2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	2,085,589 - 2,106,787 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	2,086,324 - 2,107,124 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	2,235,540 - 2,256,084 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	2,362,341 - 2,383,324 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	2,362,672 - 2,383,780 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	2,085,680 - 2,106,664 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	2,166,791 - 2,187,786 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	2,240,782 - 2,261,746 (-)	NCBI		UU_Cfam_GSD_1.0

Btnl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	36,973,660 - 36,993,788 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936727	567,656 - 587,784 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936727	567,656 - 587,784 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BTNL2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	24,790,614 - 24,807,432 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	24,789,988 - 24,809,920 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	29,001,473 - 29,021,390 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Variants

Variants in BTNL2
42 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001304561.2(BTNL2):c.1078= (p.Ser360=)	single nucleotide variant	Sarcoidosis, susceptibility to, 2 [RCV000004912]	Chr6:32396039 [GRCh38] Chr6:32363816 [GRCh37] Chr6:6p21.32	risk factor
NM_019602.1(BTNL2):c.1332G>A (p.Glu444=)	single nucleotide variant	Malignant melanoma [RCV000067307]	Chr6:32394772 [GRCh38] Chr6:32362549 [GRCh37] Chr6:32470527 [NCBI36] Chr6:6p21.32	not provided
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207075]	Chr6:32188383..32629802 [GRCh37] Chr6:6p21.32	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
NM_001304561.2(BTNL2):c.997C>A (p.Pro333Thr)	single nucleotide variant	not specified [RCV004316287]	Chr6:32396120 [GRCh38] Chr6:32363897 [GRCh37] Chr6:6p21.32	likely benign
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_001304561.2(BTNL2):c.451del (p.His151fs)	deletion	not provided [RCV001681238]	Chr6:32403193 [GRCh38] Chr6:32370970 [GRCh37] Chr6:6p21.32	benign
NM_001304561.2(BTNL2):c.36A>G (p.Ala12=)	single nucleotide variant	not provided [RCV000906760]	Chr6:32407088 [GRCh38] Chr6:32374865 [GRCh37] Chr6:6p21.32	benign
NM_001304561.2(BTNL2):c.562G>A (p.Val188Met)	single nucleotide variant	not provided [RCV000946929]	Chr6:32403082 [GRCh38] Chr6:32370859 [GRCh37] Chr6:6p21.32	benign
NM_001304561.2(BTNL2):c.631G>A (p.Ala211Thr)	single nucleotide variant	not provided [RCV000998574]	Chr6:32403013 [GRCh38] Chr6:32370790 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.474T>C (p.Ser158=)	single nucleotide variant	not provided [RCV000998576]	Chr6:32403170 [GRCh38] Chr6:32370947 [GRCh37] Chr6:6p21.32	uncertain significance
GRCh37/hg19 6p21.33-21.32(chr6:32027371-32448599)x3	copy number gain	not provided [RCV000846873]	Chr6:32027371..32448599 [GRCh37] Chr6:6p21.33-21.32	uncertain significance
NM_001304561.2(BTNL2):c.97G>C (p.Gly33Arg)	single nucleotide variant	not provided [RCV000998577]	Chr6:32405269 [GRCh38] Chr6:32373046 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.533A>G (p.Glu178Gly)	single nucleotide variant	not provided [RCV000998575]	Chr6:32403111 [GRCh38] Chr6:32370888 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.1202C>T (p.Thr401Met)	single nucleotide variant	not provided [RCV000974066]	Chr6:32394902 [GRCh38] Chr6:32362679 [GRCh37] Chr6:6p21.32	benign
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	copy number gain	not provided [RCV001005791]	Chr6:31036397..34088832 [GRCh37] Chr6:6p21.33-21.31	likely pathogenic
NM_001304561.2(BTNL2):c.80-284C>G	single nucleotide variant	not provided [RCV002223349]	Chr6:32405570 [GRCh38] Chr6:32373347 [GRCh37] Chr6:6p21.32	uncertain significance
NC_000006.11:g.(?_30695893)_(36953949_?)dup	duplication	Proteasome-associated autoinflammatory syndrome 1 [RCV003113679]	Chr6:30695893..36953949 [GRCh37] Chr6:6p21.33-21.2	uncertain significance
NM_001304561.2(BTNL2):c.40G>T (p.Ala14Ser)	single nucleotide variant	not specified [RCV004131281]	Chr6:32407084 [GRCh38] Chr6:32374861 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.362A>G (p.Gln121Arg)	single nucleotide variant	not specified [RCV004105831]	Chr6:32405004 [GRCh38] Chr6:32372781 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.1288G>A (p.Ala430Thr)	single nucleotide variant	not specified [RCV004204636]	Chr6:32394816 [GRCh38] Chr6:32362593 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.757C>G (p.Gln253Glu)	single nucleotide variant	not specified [RCV004225479]	Chr6:32396360 [GRCh38] Chr6:32364137 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.916G>A (p.Ala306Thr)	single nucleotide variant	not specified [RCV004146430]	Chr6:32396201 [GRCh38] Chr6:32363978 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.1151A>G (p.Asp384Gly)	single nucleotide variant	not specified [RCV004168352]	Chr6:32394953 [GRCh38] Chr6:32362730 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.1330G>A (p.Glu444Lys)	single nucleotide variant	not specified [RCV004217438]	Chr6:32394774 [GRCh38] Chr6:32362551 [GRCh37] Chr6:6p21.32	uncertain significance
NC_000006.11:g.(?_32148920)_(36953949_?)dup	duplication	not provided [RCV003154914]	Chr6:32148920..36953949 [GRCh37] Chr6:6p21.32-21.2	uncertain significance
NM_001304561.2(BTNL2):c.515A>G (p.Glu172Gly)	single nucleotide variant	not specified [RCV004264836]	Chr6:32403129 [GRCh38] Chr6:32370906 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.1018C>T (p.Arg340Cys)	single nucleotide variant	not specified [RCV004259083]	Chr6:32396099 [GRCh38] Chr6:32363876 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.200G>A (p.Arg67His)	single nucleotide variant	not specified [RCV004338101]	Chr6:32405166 [GRCh38] Chr6:32372943 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.692C>T (p.Ser231Leu)	single nucleotide variant	not specified [RCV004353038]	Chr6:32402952 [GRCh38] Chr6:32370729 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.709+6T>C	single nucleotide variant	not provided [RCV003490524]	Chr6:32402929 [GRCh38] Chr6:32370706 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.101C>G (p.Pro34Arg)	single nucleotide variant	not specified [RCV004429347]	Chr6:32405265 [GRCh38] Chr6:32373042 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.1049A>C (p.Gln350Pro)	single nucleotide variant	not specified [RCV004429348]	Chr6:32396068 [GRCh38] Chr6:32363845 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.346C>T (p.Pro116Ser)	single nucleotide variant	not specified [RCV004429351]	Chr6:32405020 [GRCh38] Chr6:32372797 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.215C>A (p.Thr72Lys)	single nucleotide variant	not specified [RCV004429350]	Chr6:32405151 [GRCh38] Chr6:32372928 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.1360G>C (p.Glu454Gln)	single nucleotide variant	not specified [RCV004429349]	Chr6:32394744 [GRCh38] Chr6:32362521 [GRCh37] Chr6:6p21.32	uncertain significance
NM_001304561.2(BTNL2):c.38T>G (p.Val13Gly)	single nucleotide variant	not specified [RCV004429353]	Chr6:32407086 [GRCh38] Chr6:32374863 [GRCh37] Chr6:6p21.32	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1577
Count of miRNA genes:	629
Interacting mature miRNAs:	702
Transcripts:	ENST00000374993, ENST00000374995, ENST00000414363, ENST00000429232, ENST00000446536, ENST00000454136, ENST00000465865, ENST00000540315, ENST00000544175
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

High

Medium

Low

346

337

479

500

221

Below cutoff

1648

1524

1099

249

885

125

2438

1099

2929

211

767

1107

126

845

1429

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_054759	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001304561	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017011057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054330320	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054330617	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054330837	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054333510	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC226007	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH008353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL034394	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL662796	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL670296	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL935032	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY684332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY684333	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY881999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC119668	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC127641	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC127642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX255945	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX908732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR752644	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR753634	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759773	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759917	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CU019529	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KJ657694	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KJ657695	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KJ657696	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KJ657697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500182	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500187	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500188	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500189	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500190	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500191	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z84814	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000374993 ⟹ ENSP00000364132

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	32,394,736 - 32,407,181 (-)	Ensembl

RefSeq Acc Id:

ENST00000446536 ⟹ ENSP00000388434

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	32,405,037 - 32,407,181 (-)	Ensembl

RefSeq Acc Id:

ENST00000454136 ⟹ ENSP00000390613

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	32,393,339 - 32,407,181 (-)	Ensembl

RefSeq Acc Id:

ENST00000465865 ⟹ ENSP00000420063

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	32,394,736 - 32,407,181 (-)	Ensembl

RefSeq Acc Id:

ENST00000544175 ⟹ ENSP00000443364

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	32,394,736 - 32,407,181 (-)	Ensembl

RefSeq Acc Id:

NM_001304561 ⟹ NP_001291490

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	32,393,339 - 32,407,181 (-)	NCBI
CHM1_1	6	32,363,584 - 32,377,375 (-)	NCBI
T2T-CHM13v2.0	6	32,246,262 - 32,260,103 (-)	NCBI

Sequence:

show sequence

CCGGGTGTGTCACAGCCTCACTTAGGCACAGCGTTTCCTTGTCTTTGTTCCAGGGAGGATGGTG
GATTTTCCAGGCTACAATCTGTCTGGTGCAGTCGCCTCCTTCCTATTCATCCTGCTGACAATGA
AGCAGTCAGAAGACTTTAGAGTCATTGGCCCTGCTCATCCTATCCTGGCCGGGGTTGGGGAAGA
TGCCCTGTTAACCTGCCAGCTACTCCCCAAGAGGACCACAATGCACGTGGAGGTGAGGTGGTAC
CGCTCAGAGCCCAGCACACCTGTGTTTGTGCACAGGGATGGAGTGGAGGTGACTGAGATGCAGA
TGGAGGAGTACAGAGGCTGGGTAGAGTGGATAGAGAATGGCATTGCAAAGGGAAATGTGGCACT
GAAGATACACAACATCCAGCCCTCCGACAATGGACAATACTGGTGCCATTTCCAGGATGGGAAC
TACTGTGGAGAAACAAGCTTGCTGCTCAAAGTAGCAGGTCTGGGGTCTGCCCCTAGCATCCACA
TGGAGGGACCTGGGGAGAGTGGAGTCCAGCTTGTGTGCACTGCAAGGGGCTGGTTCCCAGAGCC
CCAGGTGTATTGGGAAGACATCCGGGGAGAGAAGCTGCTGGCCGTGTCTGAGCATCGCATCCAA
GATAAAGATGGCCTGTTCTATGCGGAAGCCACCCTGGTGGTCAGGAACGCCTCTGCAGAGTCTG
TGTCCTGCTTGGTCCACAACCCCGTCCTCACTGAGGAGAAGGGGTCGGTCATCAGCCTCCCAGA
GAAACTCCAGACTGAGCTGGCTTCTTTAAAAGTGAATGGACCTTCCCAGCCCATCCTCGTCAGA
GTGGGAGAAGATATACAGCTAACCTGTTACCTGTCCCCCAAGGCGAATGCACAGAGCATGGAGG
TGAGGTGGGACCGATCCCACCGTTACCCTGCTGTGCATGTGTATATGGATGGGGACCATGTGGC
TGGAGAGCAGATGGCAGAGTACAGAGGGAGGACTGTACTGGTGAGTGACGCCATTGACGAGGGC
AGACTGACCCTGCAGATACTCAGTGCCAGACCTTCGGACGACGGGCAGTACCGCTGCCTTTTTG
AAAAAGATGATGTCTACCAGGAGGCCAGTTTGGATCTGAAGGTGGTAAGTCTGGGTTCTTCCCC
ACTGATCACTGTGGAGGGGCAAGAAGATGGAGAAATGCAGCCGATGTGCTCTTCAGATGGGTGG
TTCCCACAGCCCCACGTGCCATGGAGGGACATGGAAGGAAAGACGATACCATCATCTTCCCAGG
CCCTGACTCAAGGCAGCCACGGGCTGTTCCACGTGCAGACATTGCTAAGGGTCACAAACATCTC
CGCTGTGGACGTCACTTGTTCCATCAGCATCCCCTTTTTGGGCGAGGAGAAAATCGCAACTTTT
TCTCTCTCAGAGTCCAGGATGACGTTTTTGTGGAAAACACTGCTTGTTTGGGGATTGCTTCTTG
CTGTGGCTGTAGGCCTGCCCAGGAAGAGGAGCTGAAAAGAGTGAATGTGACATTGGCTTCAAAC
ACAGCTCACCTGAGACTGATTTCTTCTG

hide sequence

Protein Sequences


Protein RefSeqs	NP_001291490	(Get FASTA)	NCBI Sequence Viewer
	XP_054186295	(Get FASTA)	NCBI Sequence Viewer
	XP_054186592	(Get FASTA)	NCBI Sequence Viewer
	XP_054186812	(Get FASTA)	NCBI Sequence Viewer
	XP_054187343	(Get FASTA)	NCBI Sequence Viewer
	XP_054189485	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF05530	(Get FASTA)	NCBI Sequence Viewer
	AAI19669	(Get FASTA)	NCBI Sequence Viewer
	AAI27642	(Get FASTA)	NCBI Sequence Viewer
	AAI27643	(Get FASTA)	NCBI Sequence Viewer
	AAV91022	(Get FASTA)	NCBI Sequence Viewer
	AAV91023	(Get FASTA)	NCBI Sequence Viewer
	AAX35330	(Get FASTA)	NCBI Sequence Viewer
	AAX35331	(Get FASTA)	NCBI Sequence Viewer
	AHW47917	(Get FASTA)	NCBI Sequence Viewer
	AHW47934	(Get FASTA)	NCBI Sequence Viewer
	AHW47951	(Get FASTA)	NCBI Sequence Viewer
	AHW47968	(Get FASTA)	NCBI Sequence Viewer
	AQY76685	(Get FASTA)	NCBI Sequence Viewer
	AQY76686	(Get FASTA)	NCBI Sequence Viewer
	AQY76687	(Get FASTA)	NCBI Sequence Viewer
	AQY76688	(Get FASTA)	NCBI Sequence Viewer
	AQY76689	(Get FASTA)	NCBI Sequence Viewer
	AQY76690	(Get FASTA)	NCBI Sequence Viewer
	AQY76691	(Get FASTA)	NCBI Sequence Viewer
	AQY76692	(Get FASTA)	NCBI Sequence Viewer
	AQY76693	(Get FASTA)	NCBI Sequence Viewer
	AQY76694	(Get FASTA)	NCBI Sequence Viewer
	AQY76695	(Get FASTA)	NCBI Sequence Viewer
	CAC69895	(Get FASTA)	NCBI Sequence Viewer
	CAI42177	(Get FASTA)	NCBI Sequence Viewer
	CAI42180	(Get FASTA)	NCBI Sequence Viewer
	EAX03627	(Get FASTA)	NCBI Sequence Viewer
	EAX03628	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000387852.1
	ENSP00000388434.2
	ENSP00000390613
	ENSP00000390613.3
	ENSP00000394258.2
	ENSP00000394365.2
	ENSP00000394378.1
	ENSP00000394970.2
	ENSP00000396343.2
	ENSP00000399884.2
	ENSP00000402639.2
	ENSP00000405794.2
	ENSP00000409507.2
	ENSP00000411385.1
	ENSP00000411676.1
	ENSP00000411765.1
	ENSP00000411884.1
	ENSP00000413300.2
	ENSP00000414407.2
	ENSP00000414811.2
	ENSP00000415396.2
	ENSP00000416544.2
	ENSP00000416987.1
	ENSP00000420063.1
	ENSP00000443364.2
	ENSP00000446794.1
	ENSP00000446915.2
	ENSP00000447733.1
	ENSP00000447985.1
	ENSP00000448023.1
	ENSP00000448277.1
	ENSP00000448852.2
	ENSP00000448929.1
	ENSP00000449292.1
	ENSP00000449356.1
	ENSP00000449365.1
	ENSP00000449546.1
	ENSP00000450139.1
	ENSP00000479046.1
	ENSP00000483322.1
GenBank Protein	Q9UIR0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001291490 ⟸ NM_001304561
- UniProtKB:	Q95HK0 (UniProtKB/Swiss-Prot), Q5SU36 (UniProtKB/Swiss-Prot), Q5SRW4 (UniProtKB/Swiss-Prot), Q5SRW3 (UniProtKB/Swiss-Prot), Q5SP09 (UniProtKB/Swiss-Prot), Q5SP08 (UniProtKB/Swiss-Prot), Q5RIF8 (UniProtKB/Swiss-Prot), Q5MP43 (UniProtKB/Swiss-Prot), Q5MP42 (UniProtKB/Swiss-Prot), Q5JYF9 (UniProtKB/Swiss-Prot), Q58R23 (UniProtKB/Swiss-Prot), Q58R22 (UniProtKB/Swiss-Prot), Q08E96 (UniProtKB/Swiss-Prot), O98261 (UniProtKB/Swiss-Prot), B0V0N6 (UniProtKB/Swiss-Prot), B0UYW9 (UniProtKB/Swiss-Prot), A0PJV5 (UniProtKB/Swiss-Prot), Q9UIR0 (UniProtKB/Swiss-Prot), F8WBA1 (UniProtKB/TrEMBL), A0A1U9X7C0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVDFPGYNLSGAVASFLFILLTMKQSEDFRVIGPAHPILAGVGEDALLTCQLLPKRTTMHVEVR WYRSEPSTPVFVHRDGVEVTEMQMEEYRGWVEWIENGIAKGNVALKIHNIQPSDNGQYWCHFQD GNYCGETSLLLKVAGLGSAPSIHMEGPGESGVQLVCTARGWFPEPQVYWEDIRGEKLLAVSEHR IQDKDGLFYAEATLVVRNASAESVSCLVHNPVLTEEKGSVISLPEKLQTELASLKVNGPSQPIL VRVGEDIQLTCYLSPKANAQSMEVRWDRSHRYPAVHVYMDGDHVAGEQMAEYRGRTVLVSDAID EGRLTLQILSARPSDDGQYRCLFEKDDVYQEASLDLKVVSLGSSPLITVEGQEDGEMQPMCSSD GWFPQPHVPWRDMEGKTIPSSSQALTQGSHGLFHVQTLLRVTNISAVDVTCSISIPFLGEEKIA TFSLSESRMTFLWKTLLVWGLLLAVAVGLPRKRS hide sequence

RefSeq Acc Id:

ENSP00000420063 ⟸ ENST00000465865

RefSeq Acc Id:

ENSP00000443364 ⟸ ENST00000544175

RefSeq Acc Id:

ENSP00000364132 ⟸ ENST00000374993

RefSeq Acc Id:

ENSP00000390613 ⟸ ENST00000454136

RefSeq Acc Id:

ENSP00000388434 ⟸ ENST00000446536

Protein Domains

Ig-like Ig-like V-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-A0A0G2JPB7-F1-model_v2	AlphaFold	A0A0G2JPB7	1-455	view protein structure
AF-Q9UIR0-F1-model_v2	AlphaFold	Q9UIR0	1-455	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:1142	AgrOrtholog
COSMIC	BTNL2	COSMIC
Ensembl Genes	ENSG00000204290	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000224242	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000224770	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000225412	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000225845	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000226127	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000229597	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000229741	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000275798	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000415239.1	UniProtKB/TrEMBL
	ENST00000416387.5	UniProtKB/TrEMBL
	ENST00000416597.5	UniProtKB/Swiss-Prot
	ENST00000418649.4	UniProtKB/TrEMBL
	ENST00000422056.5	UniProtKB/Swiss-Prot
	ENST00000424222.1	UniProtKB/TrEMBL
	ENST00000425482.1	UniProtKB/TrEMBL
	ENST00000427760.4	UniProtKB/TrEMBL
	ENST00000429303.1	UniProtKB/TrEMBL
	ENST00000433826.5	UniProtKB/TrEMBL
	ENST00000433988.1	UniProtKB/TrEMBL
	ENST00000435335.4	UniProtKB/TrEMBL
	ENST00000443091.5	UniProtKB/TrEMBL
	ENST00000445928.5	UniProtKB/Swiss-Prot
	ENST00000446311.1	UniProtKB/TrEMBL
	ENST00000446536.3	UniProtKB/TrEMBL
	ENST00000447918.5	UniProtKB/Swiss-Prot
	ENST00000451625.4	UniProtKB/TrEMBL
	ENST00000452747.4	UniProtKB/TrEMBL
	ENST00000454136	ENTREZGENE
	ENST00000454136.8	UniProtKB/Swiss-Prot
	ENST00000457589.4	UniProtKB/TrEMBL
	ENST00000458467.1	UniProtKB/TrEMBL
	ENST00000465865.6	UniProtKB/TrEMBL
	ENST00000544175.3	UniProtKB/Swiss-Prot
	ENST00000548253.2	UniProtKB/Swiss-Prot
	ENST00000548717.3	UniProtKB/Swiss-Prot
	ENST00000548832.5	UniProtKB/Swiss-Prot
	ENST00000548835.5	UniProtKB/TrEMBL
	ENST00000549852.4	UniProtKB/Swiss-Prot
	ENST00000550327.5	UniProtKB/Swiss-Prot
	ENST00000550531.3	UniProtKB/Swiss-Prot
	ENST00000551095.2	UniProtKB/Swiss-Prot
	ENST00000551409.3	UniProtKB/TrEMBL
	ENST00000551471.3	UniProtKB/TrEMBL
	ENST00000551669.4	UniProtKB/Swiss-Prot
	ENST00000551686.5	UniProtKB/Swiss-Prot
	ENST00000552479.5	UniProtKB/Swiss-Prot
	ENST00000613156.4	UniProtKB/TrEMBL
	ENST00000618142.1	UniProtKB/TrEMBL
Gene3D-CATH	2.60.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000204290	GTEx
	ENSG00000224242	GTEx
	ENSG00000224770	GTEx
	ENSG00000225412	GTEx
	ENSG00000225845	GTEx
	ENSG00000226127	GTEx
	ENSG00000229597	GTEx
	ENSG00000229741	GTEx
	ENSG00000275798	GTEx
HGNC ID	HGNC:1142	ENTREZGENE
Human Proteome Map	BTNL2	Human Proteome Map
InterPro	CD80_C2-set	UniProtKB/TrEMBL
	Ig-like_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig-like_fold	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig_C1-set	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig_sub	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig_V-set	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:56244	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	56244	ENTREZGENE
OMIM	606000	OMIM
PANTHER	BTNL2-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BUTYROPHILIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	C2-set_2	UniProtKB/TrEMBL
	V-set	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25463	PharmGKB
PROSITE	IG_LIKE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	IGc1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	IGv	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SM00409	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF48726	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0G2JJ84	ENTREZGENE, UniProtKB/TrEMBL
	A0A0G2JME2_HUMAN	UniProtKB/TrEMBL
	A0A0G2JPB7_HUMAN	UniProtKB/TrEMBL
	A0A1U9X7C0	ENTREZGENE, UniProtKB/TrEMBL
	A0PJV4_HUMAN	UniProtKB/TrEMBL
	A0PJV5	ENTREZGENE
	B0UYW9	ENTREZGENE
	B0V0N6	ENTREZGENE
	BTNL2_HUMAN	UniProtKB/Swiss-Prot
	F6UPS5_HUMAN	UniProtKB/TrEMBL
	F8WBA1	ENTREZGENE
	F8WDK6_HUMAN	UniProtKB/TrEMBL
	I7HPB5_HUMAN	UniProtKB/TrEMBL
	O98261	ENTREZGENE
	Q08E96	ENTREZGENE
	Q58R22	ENTREZGENE
	Q58R23	ENTREZGENE
	Q5JYF9	ENTREZGENE
	Q5MP42	ENTREZGENE
	Q5MP43	ENTREZGENE
	Q5RIF8	ENTREZGENE
	Q5SP08	ENTREZGENE
	Q5SP09	ENTREZGENE
	Q5SRW3	ENTREZGENE
	Q5SRW4	ENTREZGENE
	Q5SU36	ENTREZGENE
	Q95HK0	ENTREZGENE
	Q9UIR0	ENTREZGENE
	X5CF33_HUMAN	UniProtKB/TrEMBL
	X5D146_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	A0PJV5	UniProtKB/Swiss-Prot
	B0UYW9	UniProtKB/Swiss-Prot
	B0V0N6	UniProtKB/Swiss-Prot
	F6SQS0	UniProtKB/TrEMBL
	F6UV38	UniProtKB/TrEMBL
	F6V0C1	UniProtKB/TrEMBL
	F6V7R2	UniProtKB/TrEMBL
	F6WII9	UniProtKB/TrEMBL
	F6WYK5	UniProtKB/TrEMBL
	F6Y9E2	UniProtKB/TrEMBL
	F8WBA1	UniProtKB/Swiss-Prot
	O98261	UniProtKB/Swiss-Prot
	Q08E96	UniProtKB/Swiss-Prot
	Q58R22	UniProtKB/Swiss-Prot
	Q58R23	UniProtKB/Swiss-Prot
	Q5JYF9	UniProtKB/Swiss-Prot
	Q5MP42	UniProtKB/Swiss-Prot
	Q5MP43	UniProtKB/Swiss-Prot
	Q5RIF8	UniProtKB/Swiss-Prot
	Q5SP08	UniProtKB/Swiss-Prot
	Q5SP09	UniProtKB/Swiss-Prot
	Q5SRW3	UniProtKB/Swiss-Prot
	Q5SRW4	UniProtKB/Swiss-Prot
	Q5SU36	UniProtKB/Swiss-Prot
	Q95HK0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-01-12	BTNL2	butyrophilin like 2		butyrophilin-like 2	Symbol and/or name change	5135510	APPROVED
2015-03-10	BTNL2	butyrophilin-like 2		butyrophilin-like 2 (MHC class II associated)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO