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Bcl11b Gene Detail
Summary
  • Symbol
    Bcl11b
  • Name
    B cell leukemia/lymphoma 11B
  • Synonyms
    9130430L19Rik, B630002E05Rik, COUP-TF interacting protein 2, CTIP2, Rit1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1929913
    NCBI Gene: 58208
  • Alliance
    gene page
  • Transcription Start Sites
    45 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:107876662-107969861 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 59.10 cM, cytoband F1
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2291 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1929913
 protein coding gene Chr12:107876662-107970404 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020099
 protein coding gene Chr12:109984199-110085474 (-)
A/J MGP_AJ_G0020053
 protein coding gene Chr12:105841021-105935251 (-)
AKR/J MGP_AKRJ_G0020029
 protein coding gene Chr12:108900274-109001889 (-)
BALB/cJ MGP_BALBcJ_G0020039
 protein coding gene Chr12:106243213-106338701 (-)
C3H/HeJ MGP_C3HHeJ_G0019841
 protein coding gene Chr12:109346053-109441906 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020484
 protein coding gene Chr12:113353436-113458930 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018096
 protein coding gene Chr12:102378008-102470412 (-)
CAST/EiJ MGP_CASTEiJ_G0019383
 protein coding gene Chr12:104248155-104350572 (-)
CBA/J MGP_CBAJ_G0019808
 protein coding gene Chr12:117871692-117973366 (-)
DBA/2J MGP_DBA2J_G0019925
 protein coding gene Chr12:105359755-105453962 (-)
FVB/NJ MGP_FVBNJ_G0019910
 protein coding gene Chr12:104135781-104231194 (-)
LP/J MGP_LPJ_G0020000
 protein coding gene Chr12:109845504-109953276 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019948
 protein coding gene Chr12:121110223-121207902 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020513
 protein coding gene Chr12:108354535-108453724 (-)
PWK/PhJ MGP_PWKPhJ_G0019142
 protein coding gene Chr12:99971965-100066905 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018946
 protein coding gene Chr12:102569103-102665110 (-)
WSB/EiJ MGP_WSBEiJ_G0019440
 protein coding gene Chr12:109294206-109394420 (-)



Homology
more
  • Human Ortholog
    BCL11B, BCL11 transcription factor B
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BCL11B, BCL11 transcription factor B
  • Synonyms
    ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, CTIP-2, CTIP2, hRIT1-alpha, IDDFSTA, IMD49, RIT1, SMARCM2, ZNF856B
  • Links
    NCBI Gene ID: 64919
    neXtProt AC: NX_Q9C0K0
    UniProt: Q9C0K0

  • Chr Location
    14q32.2; chr14:99169287-99272197 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human BCL11B associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    67 phenotypes from 8 alleles in 9 genetic backgrounds
    5 phenotypes from multigenic genotypes
    2 images
    82 phenotype references
Phenotype Overview

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.
Animals homozygous for a mutation of this gene are born with open eyes, exhibit abnormalities of the thymus, and die within 1 day after birth. Mice heterozygous for a hypomorphic allele and a knock-out allele exhibit lethality at weaning due to maxillaryincisor hyperplasia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    57
  • GO References
    21
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.
Expression
less
Expression Overview

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
    1499
  • Tissues
    308
  • cDNA Data
    66
  • Literature Summary
    693
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000048251 Ensembl Gene Model | MGI Sequence Detail 93200 C57BL/6J ±  kb
    transcript ENSMUST00000066060 Ensembl | MGI Sequence Detail 8111 Not Applicable  
    polypeptide ENSMUSP00000068258 Ensembl | MGI Sequence Detail 884 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 76
      cDNA 68
      Primer pair 5
      Other 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1924922, MGI:1925932, MGI:2144864
    References
    more
    • Summaries
      All 803
      Developmental Gene Expression 693
      Gene Ontology 21
      Phenotypes 82
    • Earliest
      J:61589 Avram D, et al., Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors. J Biol Chem. 2000 Apr 7;275(14):10315-22
    • Latest
      J:356256 Bertino F, et al., Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus. Cell Rep Med. 2024 Jul 16;5(7):101647
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory