BTNL2

Ensembl ID:: ENSDARG00000093039
Description:: butyrophilin-like 2 (MHC class II associated) [Source:HGNC Symbol;Acc:1142]
Human Orthologues:: BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, BTNL2, RP5-915N17.9
Human Descriptions:: butyrophilin, subfamily 1, member A1 [Source:HGNC Symbol;Acc:1135]; butyrophilin, subfamily 2, member A1 [Source:HGNC Symbol;Acc:1136]; butyrophilin, subfamily 2, member A2 [Source:HGNC Symbol;Acc:1137]; butyrophilin, subfamily 3, member A1 [Source:HGNC Symbol;Acc:1138]; butyrophilin, subfamily 3, member A2 [Source:HGNC Symbol;Acc:1139]; butyrophilin, subfamily 3, member A3 [Source:HGNC Symbol;Acc:1140]; butyrophilin-like 2 (MHC class II associated) [Source:HGNC Symbol;Acc:1142]; Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:A8MVZ5]
Mouse Orthologues:: Btn1a1, Btn2a2, Btn3a3, Btnl2, Btnl3, Btnl5, Btnl6, Btnl7, Butr1, Skint1, Skint2, Skint3, Skint4, Skint5, Skint6, Skint7, Skint8
Mouse Descriptions:: butyrophilin related 1 Gene [Source:MGI Symbol;Acc:MGI:2182073]; butyrophilin, subfamily 1, member A1 Gene [Source:MGI Symbol;Acc:MGI:103118]; butyrophilin, subfamily 2, member A2 Gene [Source:MGI Symbol;Acc:MGI:3606486]; butyrophilin, subfamily 3, member A3 Gene [Source:MGI Symbol;Acc:MGI:1932036]; butyrophilin-like 2 Gene [Source:MGI Symbol;Acc:MGI:1859549]; butyrophilin-like 3 Gene [Source:MGI Symbol;Acc:MGI:1932027]; butyrophilin-like 5 Gene [Source:MGI Symbol;Acc:MGI:1932037]; butyrophilin-like 6 Gene [Source:MGI Symbol;Acc:MGI:1932038]; butyrophilin-like 7 Gene [Source:MGI Symbol;Acc:MGI:2388054]; selection and upkeep of intraepithelial T cells 1 Gene [Source:MGI Symbol;Acc:MGI:3649627]; selection and upkeep of intraepithelial T cells 2 Gene [Source:MGI Symbol;Acc:MGI:3649629]; selection and upkeep of intraepithelial T cells 3 Gene [Source:MGI Symbol;Acc:MGI:3045331]; selection and upkeep of intraepithelial T cells 4 Gene [Source:MGI Symbol;Acc:MGI:2444425]; selection and upkeep of intraepithelial T cells 5 Gene [Source:MGI Symbol;Acc:MGI:3650151]; selection and upkeep of intraepithelial T cells 6 Gene [Source:MGI Symbol;Acc:MGI:3649262]; selection and upkeep of intraepithelial T cells 7 Gene [Source:MGI Symbol;Acc:MGI:3041190]; selection and upkeep of intraepithelial T cells 8 Gene [Source:MGI Symbol;Acc:MGI:3651523]

Alleles

There is 1 allele of this gene:

Allele name	Consequence	Status	Availability Estimate
sa16505	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:: sa16505
Current Status:: Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:: T > A
Consequence:: Nonsense

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000141885	Nonsense	314	430	5	6

Genomic Location:: Chromosome 7 (position 844000)
KASP Assay ID:: None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:: TGGAGATGTGTCTCTGCAGCTGGAGAMGATCAYCATTCAGGATGAAGCTW[T/A]ATTTCACTGCTAYGTCAGTGGAGAYAATGGATATGACAGTGMASAGCTGG
Associated Phenotype:: Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

Anti-cyclic Citrullinated Peptide Antibody: Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis. (View Study)
Asthma: Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA. (View Study)
Asthma: Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. (View Study)
Coronary heart disease: Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. (View Study)
Hepatitis C induced liver cirrhosis: A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region. (View Study)
HIV-1 control: Common genetic variation and the control of HIV-1 in humans. (View Study)
Iron status biomarkers: Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. (View Study)
Knee osteoarthritis: New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study. (View Study)
Lung adenocarcinoma: A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population. (View Study)
Multiple sclerosis (OCB status): Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles. (View Study)
Primary biliary cirrhosis: Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. (View Study)
Sarcoidosis: Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis. (View Study)
Schizophrenia: Common variants on chromosome 6p22.1 are associated with schizophrenia. (View Study)
Ulcerative colitis: A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. (View Study)
Ulcerative colitis: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (View Study)
Ulcerative colitis: Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. (View Study)
Ulcerative colitis: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (View Study)
Vitiligo: Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. (View Study)
Vitiligo: Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. (View Study)
Waist-hip ratio: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

OMIM

OMIM information for BTN1A1

Sarcoidosis, susceptibility to, 2

More OMIM information for BTNL2

OMIM information for BTN2A1

OMIM information for BTN2A2

OMIM information for BTN3A1

OMIM information for BTN3A2

OMIM information for BTN3A3

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