Bcl11a MGI Mouse Gene Detail - MGI:106190 - BCL11 transcription factor A

Symbol

Bcl11a
Name

BCL11 transcription factor A
Synonyms

2810047E18Rik, COUP-TF interacting protein 1, CTIP1, D930021L15Rik, Evi9, Evi9a, Evi9b, Evi9c, mKIAA1809, mouse myeloid leukemia gene

Feature Type

protein coding gene
IDs

MGI:106190
NCBI Gene: 14025
Alliance

gene page
Transcription Start Sites

20 TSS

Sequence Map

Chr11:24028056-24124123 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 14.41 cM
Mapping Data

3 experiments

SNPs within 2kb

1835 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_106190	protein coding gene	Chr11:24026498-24124123 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018095	protein coding gene	Chr11:21869302-21968691 (+)
A/J	MGP_AJ_G0018068	protein coding gene	Chr11:21008883-21106367 (+)
AKR/J	MGP_AKRJ_G0018032	protein coding gene	Chr11:21759213-21858409 (+)
BALB/cJ	MGP_BALBcJ_G0018036	protein coding gene	Chr11:21159542-21257770 (+)
C3H/HeJ	MGP_C3HHeJ_G0017850	protein coding gene	Chr11:21643765-21741923 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018488	protein coding gene	Chr11:22750607-22858341 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016146	protein coding gene	Chr11:19892521-19988647 (+)
CAST/EiJ	MGP_CASTEiJ_G0017411	protein coding gene	Chr11:21676980-21784581 (+)
CBA/J	MGP_CBAJ_G0017824	protein coding gene	Chr11:23717423-23833511 (+)
DBA/2J	MGP_DBA2J_G0017934	protein coding gene	Chr11:20930413-21027912 (+)
FVB/NJ	MGP_FVBNJ_G0017926	protein coding gene	Chr11:20717346-20816111 (+)
LP/J	MGP_LPJ_G0018005	protein coding gene	Chr11:21966135-22071168 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017952	protein coding gene	Chr11:24287027-24388930 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018529	protein coding gene	Chr11:21863890-21966004 (+)
PWK/PhJ	MGP_PWKPhJ_G0017192	protein coding gene	Chr11:20995753-21092537 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016989	protein coding gene	Chr11:21623472-21722805 (+)
WSB/EiJ	MGP_WSBEiJ_G0017465	protein coding gene	Chr11:21500106-21605208 (+)

Human Ortholog

BCL11A, BCL11 transcription factor A

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BCL11A, BCL11 transcription factor A
Synonyms

CTIP1, DILOS, EVI9, HBFQTL5, SMARCM1, ZNF856
Links

HGNC:13221

NCBI Gene ID: 53335

neXtProt AC: NX_Q9H165

UniProt: Q9H165
Chr Location

2p16.1; chr2:60450520-60554467 (-) GRCh38

MGI Vertebrate Homology

Bcl11a stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: BCL11A
Gene Tree

Bcl11a

Diseases

4 with human BCL11A associations

				Human Disease	Mouse Models
				autism spectrum disorder IDs autism spectrum disorder DOID:0060041 MESH:D000067877
				beta thalassemia IDs beta thalassemia DOID:12241 ICD10CM:D56.1 ICD9CM:282.44 MESH:D017086 NCI:C34375 OMIM:613985 ORDO:848 UMLS_CUI:C0005283
				schizophrenia IDs schizophrenia DOID:5419 DOID:14734 ICD10CM:F20 ICD9CM:295 ICD9CM:295.8 ICD9CM:295.80 ICD9CM:295.9 ICD9CM:295.90 MESH:D012559 NCI:C3362 OMIM:181500 UMLS_CUI:C0036341
				sickle cell anemia IDs sickle cell anemia DOID:10923 DOID:12924 DOID:13024 ICD10CM:D57.1 ICD10CM:D57.2 ICD9CM_2006:282.63 ICD9CM:282.6 ICD9CM:282.60 ICD9CM:282.63 MESH:D000755 MESH:D006450 NCI:C34383 NCI:C34676 ORDO:232 UMLS_CUI:C0002895 UMLS_CUI:C0019034

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

less

Phenotype Summary

37 phenotypes from 7 alleles in 8 genetic backgrounds
20 phenotypes from multigenic genotypes
39 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

27
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

3
Targeted

16
Transgenic

1
Genomic Mutations

1 involving Bcl11a
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

44 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygous mutation of this gene results in B cell deficiency, alteration of T cell types, and neonatal lethality.

less

All GO Annotations

43
GO References

11

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.

less

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

1125
Tissues

186
cDNA Data

19
Literature Summary

45

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bcl11a

ZFIN bcl11aa, bcl11ab

less

All Sequences

107
RefSeq

42
UniProt

4
CCDS

CCDS24483.1, CCDS48758.1, CCDS48759.1, CCDS56764.1

Ensembl

ENSMUSG00000000861 (Evidence)
NCBI Gene

14025

			Length	Strain/Species	Flank
genomic	ENSMUSG00000000861	Ensembl Gene Model \| MGI Sequence Detail	96068	C57BL/6J	± kb
transcript	ENSMUST00000109514	Ensembl \| MGI Sequence Detail	5989	Not Applicable
polypeptide	ENSMUSP00000105140	Ensembl \| MGI Sequence Detail	835	Not Applicable

less

UniProt

4 Sequences
Protein Ontology

PR:000004690 B-cell lymphoma/leukemia 11A

(term hierarchy)
InterPro Domains

IPR051497 Developmental and Hematopoietic Transcription Factors

IPR036236 Zinc finger C2H2 superfamily

IPR013087 Zinc finger C2H2-type
GlyGen

Q9QYE3 3 sites, 3 N-linked glycans (3 sites)

less

All nucleic 32

cDNA 22

Primer pair 5

Other 5

Microarray probesets 10

less

MGD-MRK-33881, MGI:1919958, MGI:2442002

Summaries

All 108

Developmental Gene Expression 45

Gene Ontology 11

Phenotypes 39
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:353587 Greig LC, et al., BEAM: A combinatorial recombinase toolbox for binary gene expression and mosaic genetic analysis. Cell Rep. 2024 Aug 27;43(8):114650

TSS for Bcl11a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr100653	Chr11:24027565-24027612 (+)	-467 bp
Tssr100654	Chr11:24027742-24027794 (+)	-288 bp
Tssr100655	Chr11:24027800-24027810 (+)	-251 bp
Tssr100656	Chr11:24027940-24027951 (+)	-110 bp
Tssr100657	Chr11:24027965-24027974 (+)	-86 bp
Tssr100658	Chr11:24028022-24028076 (+)	-7 bp
Tssr100659	Chr11:24028078-24028096 (+)	31 bp
Tssr100660	Chr11:24028111-24028134 (+)	67 bp
Tssr100661	Chr11:24028206-24028219 (+)	157 bp
Tssr100662	Chr11:24028229-24028268 (+)	193 bp
Tssr100663	Chr11:24028270-24028290 (+)	224 bp
Tssr100664	Chr11:24028291-24028323 (+)	251 bp
Tssr100665	Chr11:24028353-24028379 (+)	310 bp
Tssr100666	Chr11:24030664-24030706 (+)	2,629 bp
Tssr100667	Chr11:24048473-24048487 (+)	20,424 bp
Tssr100668	Chr11:24048559-24048573 (+)	20,510 bp
Tssr100669	Chr11:24052587-24052591 (+)	24,533 bp
Tssr100670	Chr11:24063739-24063752 (+)	35,690 bp
Tssr100671	Chr11:24079066-24079072 (+)	51,013 bp
Tssr100672	Chr11:24108300-24108311 (+)	80,250 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24