B2m MGI Mouse Gene Detail - MGI:88127

Symbol

B2m
Name

beta-2 microglobulin
Synonyms

beta2-m, beta 2 microglobulin, Ly-m11

Feature Type

protein coding gene
IDs

MGI:88127
NCBI Gene: 12010
Alliance

gene page
Transcription Start Sites

26 TSS

Sequence Map

Chr2:121978168-121983563 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 60.55 cM, cytoband F1-F3
Mapping Data

126 experiments

SNPs within 2kb

167 from dbSNP Build 142
Strain Annotations

18
PCR

2
RFLP

21

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88127	protein coding gene	Chr2:121978167-121983564 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026406	protein coding gene	Chr2:125132727-125138114 (+)
A/J	MGP_AJ_G0026368	protein coding gene	Chr2:120019046-120024436 (+)
AKR/J	MGP_AKRJ_G0026345	protein coding gene	Chr2:123380130-123385519 (+)
BALB/cJ	MGP_BALBcJ_G0026380	protein coding gene	Chr2:120248516-120253906 (+)
C3H/HeJ	MGP_C3HHeJ_G0026125	protein coding gene	Chr2:123867797-123873187 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026827	protein coding gene	Chr2:129195593-129200990 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024206	protein coding gene	Chr2:114991429-114996922 (+)
CAST/EiJ	MGP_CASTEiJ_G0025587	protein coding gene	Chr2:124199555-124205024 (+)
CBA/J	MGP_CBAJ_G0026104	protein coding gene	Chr2:133750950-133756338 (+)
DBA/2J	MGP_DBA2J_G0026241	protein coding gene	Chr2:119415440-119420830 (+)
FVB/NJ	MGP_FVBNJ_G0026203	protein coding gene	Chr2:118207645-118213032 (+)
LP/J	MGP_LPJ_G0026343	protein coding gene	Chr2:125381840-125387229 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026223	protein coding gene	Chr2:137955707-137961096 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026882	protein coding gene	Chr2:123496141-123501529 (+)
PWK/PhJ	MGP_PWKPhJ_G0025323	protein coding gene	Chr2:119027815-119033333 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025123	protein coding gene	Chr2:122640314-122645718 (+)
WSB/EiJ	MGP_WSBEiJ_G0025659	protein coding gene	Chr2:124353586-124358976 (+)

Human Ortholog

B2M, beta-2-microglobulin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

B2M, beta-2-microglobulin
Synonyms

AMYLD6, IMD43, MHC1D4
Links

HGNC:914

NCBI Gene ID: 567

neXtProt AC: NX_P61769

UniProt: P61769
Chr Location

15q21.1; chr15:44711358-44718851 (+) GRCh38

MGI Vertebrate Homology

B2m stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: B2M
Gene Tree

B2m

Diseases

1 with B2m mouse models; 3 with human B2M associations

Human Disease

Mouse Models

hemochromatosis

IDs

View 1 model

arthritis

IDs

immunodeficiency 43

IDs

inflammatory bowel disease

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

3 with disease annotations

References

7 with disease annotations

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Phenotype Summary

34 phenotypes from 6 alleles in 10 genetic backgrounds
78 phenotypes from multigenic genotypes
822 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

57
Chemically induced (other)

1
Endonuclease-mediated

12
Gene trapped

26
Radiation induced

1
Spontaneous

2
Targeted

11
Transgenic

4
Genomic Mutations

2 involving B2m
Find Mice (IMSR)

122 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes lacking B2m appear normal, but have no detectable MHC class I antigen on their cells and are deficient in CD4- CD8+ T cells which mediate cytotoxic T cell function. Mutant mice are also subject to systemic iron loading.

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All GO Annotations

83
GO References

18

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

769
Tissues

39
cDNA Data

23
Literature Summary

22

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA B2M

Xenbase b2m

ZFIN b2m

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All Sequences

49
RefSeq

2
UniProt

3
CCDS

CCDS16654.1

Ensembl

ENSMUSG00000060802 (Evidence)
NCBI Gene

12010

			Length	Strain/Species	Flank
genomic	12010	NCBI Gene Model \| MGI Sequence Detail	5396	C57BL/6J	± kb
transcript	NM_009735	RefSeq \| MGI Sequence Detail	858	ZRU/MplStud
polypeptide	P01887	UniProt \| EBI \| MGI Sequence Detail	119	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000004580 beta-2-microglobulin

(term hierarchy)
PDB

1BII, 1BQH, 1BZ9, 1CD1, 1DDH, 1FFN, 1FFO, 1FFP, 1FG2, 1FO0, 1FZJ, 1FZK, 1FZM, 1FZO, 1G6R, 1G7P, 1G7Q, 1HOC, 1INQ, 1JPF, 1JPG, 1JUF, 1K8D, 1KBG, 1KJ2, 1KJ3, 1KPU, 1KPV, 1LD9, 1LDP, 1LEG, 1LEK, 1LK2, 1MHC, 1MWA, 1N3N, 1N59, 1N5A, 1NAM, 1NAN, 1NEZ, 1OSZ, 1P1Z, 1P4L, 1PQZ, 1QO3, 1RJY, 1RJZ, 1RK0, 1RK1, 1S7Q, 1S7R, 1S7S, 1S7T, 1S7U, 1S7V, 1S7W, 1S7X, 1T0M, 1T0N, 1U58, 1VAC, 1VAD, 1WBX, 1WBY, 1WBZ, 1YN6, 1YN7, 1Z5L, 1ZHB, 1ZHN, 1ZT1, 1ZT7, 2AKR, 2CKB, 2CLV, 2CLZ, 2FIK, 2FO4, 2FWO, 2GAZ, 2MHA, 2OL3, 2Q7Y, 2QRI, 2QRS, 2QRT, 2VAA, 2VAB, 2VE6, 2ZOK, 2ZOL, 2ZSV, 2ZSW, 3ARB, 3ARD, 3ARE, 3ARF, 3ARG, 3AU1, 3BUY, 3C8K, 3CC5, 3CCH, 3CH1, 3CPL, 3CVH, 3DMM, 3E6F, 3E6H, 3ECB, 3FOL, 3FOM, 3FON, 3FTG, 3G08, 3GML, 3GMM, 3GMN, 3GMO, 3GMP, 3GMQ, 3GMR, 3HE6, 3HE7, 3ILP, 3ILQ, 3L3H, 3MA7, 3NWM, 3O8X, 3O9W, 3P4M, 3P4N, 3P4O, 3P9L, 3P9M, 3PAB, 3PQY, 3PWU, 3QI9, 3QUK, 3QUL, 3QUX, 3QUY, 3QUZ, 3RGV, 3ROL, 3ROO, 3RTQ, 3RUG, 3RZC, 3SCM, 3SDA, 3SDC, 3SDD, 3T1F, 3TA3, 3TBS, 3TBT, 3TBV, 3TBW, 3TBY, 3TN0, 3TO4, 3TVM, 3UBX, 3VJ6, 3WS3, 3WS6, 4APQ, 4EI5, 4ELM, 4HS3, 4HUU, 4HUV, 4HUW, 4HUX, 4HV8, 4IHO, 4IRJ, 4IRS, 4L8B, 4L8C, 4L8D, 4MNG, 4MQ7, 4MX7, 4NSK, 4PG2, 4PG9, 4PGB, 4PGC, 4PGD, 4PGE, 4PV8, 4PV9, 4Y16, 4Y2D, 4Y4F, 4Y4H, 4Y4K, 4ZAK, 4ZUS, 4ZUT, 4ZUU, 4ZUV, 4ZUW, 5E8N, 5E8O, 5E8P, 5EFI, 5FKP, 5IVX, 5J6G, 5J6H, 5JWD, 5JWE, 5KD4, 5KD7, 5M00, 5M02, 5MZM, 5OQF, 5OQG, 5OQH, 5OQI, 5SWS, 5SWZ, 5T7G, 5TIL, 5TJE, 5TW2, 5TW5, 5VCJ, 5VCL, 5WES, 5WET, 5WEU, 5WLG, 5WLI, 6A97, 6BMH, 6BMK, 6BNK, 6BNL, 6C5M, 6C69, 6C6A, 6C6C, 6C6E, 6C6F, 6C6H, 6C6J, 6CW6, 6CW9, 6CWB, 6CWE, 6CX5, 6CX7, 6CX9, 6CXA, 6CXE, 6CXF, 6CYW, 6E1I, 6G9Q, 6G9R, 6GB5, 6GB6, 6GB7, 6H6D, 6H6H, 6I8C, 6JQ2, 6JQ3, 6L9M, 6L9N, 6MIV, 6MIY, 6MJ4, 6MJ6, 6MJA, 6MJI, 6MJJ, 6MJQ, 6MP0, 6MP1, 6MSS, 6OJP, 6OMG, 6OOR, 6XNG, 7JI2, 7JWJ, 7LFI, 7LFJ, 7LFK, 7LFL, 7LFM, 7M72, 7P0A, 7P0T, 7WCY, 8D5E, 8D5F, 8D5J, 8D5K, 8D5N, 8FHL, 8FHU, 8JHV, 8JHW, 8P43, 8TQ7, 8TQ8, 8TQ9, 8TQA, 8UMO, 8VZ8, 8VZ9
InterPro Domains

IPR015707 Beta-2-Microglobulin

IPR003597 Immunoglobulin C1-set

IPR007110 Immunoglobulin-like domain

IPR036179 Immunoglobulin-like domain superfamily

IPR013783 Immunoglobulin-like fold

IPR003006 Immunoglobulin/major histocompatibility complex, conserved site

IPR050160 Major Histocompatibility Complex/Immunoglobulin
GlyGen

P01887 1 site, 1 O-linked glycan (1 site)

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All nucleic 63

Genomic 27

cDNA 23

Primer pair 9

Other 4

Microarray probesets 5

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MGD-MRK-12010, MGD-MRK-1492

Summaries

All 1033

Developmental Gene Expression 22

Diseases 7

Gene Ontology 18

Phenotypes 822
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:357723 Sirbulescu RF, et al., Allogeneic B cell immunomodulatory therapy in amyotrophic lateral sclerosis. FASEB J. 2024 Jul 15;38(13):e23796

TSS for B2m:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19804	Chr2:121977956-121977975 (+)	-202 bp
Tssr19805	Chr2:121978161-121978177 (+)	1 bp
Tssr19806	Chr2:121978203-121978209 (+)	38 bp
Tssr19807	Chr2:121979645-121979665 (+)	1,487 bp
Tssr19808	Chr2:121979698-121979739 (+)	1,551 bp
Tssr19809	Chr2:121980042-121980055 (+)	1,881 bp
Tssr19810	Chr2:121981043-121981090 (+)	2,899 bp
Tssr19811	Chr2:121981356-121981367 (+)	3,194 bp
Tssr19812	Chr2:121981391-121981411 (+)	3,233 bp
Tssr19813	Chr2:121981415-121981429 (+)	3,254 bp
Tssr19814	Chr2:121981438-121981447 (+)	3,275 bp
Tssr19815	Chr2:121981454-121981461 (+)	3,290 bp
Tssr19816	Chr2:121981470-121981482 (+)	3,308 bp
Tssr19817	Chr2:121981493-121981507 (+)	3,332 bp
Tssr19818	Chr2:121981516-121981566 (+)	3,373 bp
Tssr19819	Chr2:121981573-121981585 (+)	3,411 bp
Tssr19820	Chr2:121983089-121983100 (+)	4,927 bp
Tssr19821	Chr2:121983120-121983231 (+)	5,008 bp
Tssr19822	Chr2:121983232-121983243 (+)	5,070 bp
Tssr19823	Chr2:121983265-121983316 (+)	5,123 bp
Tssr19824	Chr2:121983320-121983327 (+)	5,156 bp
Tssr19825	Chr2:121983343-121983376 (+)	5,192 bp
Tssr19826	Chr2:121983383-121983407 (+)	5,227 bp
Tssr19827	Chr2:121983412-121983424 (+)	5,250 bp
Tssr19828	Chr2:121983449-121983482 (+)	5,298 bp
Tssr19829	Chr2:121983493-121983528 (+)	5,343 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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