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Sbf2 Gene Detail
Summary
  • Symbol
    Sbf2
  • Name
    SET binding factor 2
  • Synonyms
    4833411B01Rik, B430219L04Rik, mMTMH1, Mtmr13, SBF2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921831
    NCBI Gene: 319934
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:109907220-110214129 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 57.70 cM, cytoband F2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    7286 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921831
 protein coding gene Chr7:109907218-110215150 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032857
 protein coding gene Chr7:113787252-114121511 (-)
A/J MGP_AJ_G0032841
 protein coding gene Chr7:110957580-111293079 (-)
AKR/J MGP_AKRJ_G0032772
 protein coding gene Chr7:113750890-114073062 (-)
BALB/cJ MGP_BALBcJ_G0032845
 protein coding gene Chr7:110658626-110972836 (-)
C3H/HeJ MGP_C3HHeJ_G0032555
 protein coding gene Chr7:113774256-114087710 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033351
 protein coding gene Chr7:118502021-118834845 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030323
 protein coding gene Chr7:112538208-112894072 (-)
CAST/EiJ MGP_CASTEiJ_G0031883
 protein coding gene Chr7:105340886-105668991 (-)
CBA/J MGP_CBAJ_G0032528
 protein coding gene Chr7:122368669-122719021 (-)
DBA/2J MGP_DBA2J_G0032680
 protein coding gene Chr7:109065276-109375438 (-)
FVB/NJ MGP_FVBNJ_G0032633
 protein coding gene Chr7:108921890-109230094 (-)
LP/J MGP_LPJ_G0032774
 protein coding gene Chr7:115324493-115641915 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032665
 protein coding gene Chr7:124006470-124375841 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033372
 protein coding gene Chr7:112758509-113091885 (-)
PWK/PhJ MGP_PWKPhJ_G0031590
 protein coding gene Chr7:101891296-102212715 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031438
 protein coding gene Chr7:99451717-99830188 (-)
WSB/EiJ MGP_WSBEiJ_G0031996
 protein coding gene Chr7:113618802-113947968 (-)



Homology
more
  • Human Ortholog
    SBF2, SET binding factor 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SBF2, SET binding factor 2
  • Synonyms
    CMT4B2, DENND7B, MTMR13
  • Links
    NCBI Gene ID: 81846
    neXtProt AC: NX_Q86WG5
    UniProt: Q86WG5

  • Chr Location
    11p15.4; chr11:9776776-10304877 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Sbf2 mouse models; 1 with human SBF2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 2 alleles in 1 genetic background
    5 phenotypes from multigenic genotypes
    5 images
    20 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.
Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    6
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
    756
  • Tissues
    48
  • cDNA Data
    125
  • Literature Summary
    1
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000038371 Ensembl Gene Model | MGI Sequence Detail 306910 C57BL/6J ±  kb
transcript ENSMUST00000033058 Ensembl | MGI Sequence Detail 7154 Not Applicable  
polypeptide ENSMUSP00000033058 Ensembl | MGI Sequence Detail 1872 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 126
    cDNA 125
    Primer pair 1

    Microarray probesets 7
Other
Accession IDs
less
MGI:2141827, MGI:2141904, MGI:2443006
References
more
  • Summaries
    All 52
    Developmental Gene Expression 1
    Diseases 2
    Gene Ontology 6
    Phenotypes 20
  • Earliest
    J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
  • Latest
    J:326685 Mammel AE, et al., Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination. Hum Mol Genet. 2022 Apr 22;31(8):1216-1229
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
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory