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Sf3b4 Gene Detail
Summary
  • Symbol
    Sf3b4
  • Name
    splicing factor 3b, subunit 4
  • Synonyms
    49kDa, MGC:36369, MGC:36564, Sap49, SF3b49
  • Feature Type
    protein coding gene
  • IDs
    MGI:109580
    NCBI Gene: 107701
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:96079822-96084880 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 41.65 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    45 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109580
 protein coding gene Chr3:96079648-96084880 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027606
 protein coding gene Chr3:96984069-96989563 (+)
A/J MGP_AJ_G0027565
 protein coding gene Chr3:93939281-93944691 (+)
AKR/J MGP_AKRJ_G0027532
 protein coding gene Chr3:96134179-96141529 (+)
BALB/cJ MGP_BALBcJ_G0027577
 protein coding gene Chr3:93716828-93724732 (+)
C3H/HeJ MGP_C3HHeJ_G0027310
 protein coding gene Chr3:96424254-96431549 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028025
 protein coding gene Chr3:100530804-100540795 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025365
 protein coding gene Chr3:90262971-90267905 (+)
CAST/EiJ MGP_CASTEiJ_G0026760
 protein coding gene Chr3:95711351-95716527 (+)
CBA/J MGP_CBAJ_G0027287
 protein coding gene Chr3:104220525-104225301 (+)
DBA/2J MGP_DBA2J_G0027426
 protein coding gene Chr3:93229623-93241125 (+)
FVB/NJ MGP_FVBNJ_G0027397
 protein coding gene Chr3:91305260-91312050 (+)
LP/J MGP_LPJ_G0027535
 protein coding gene Chr3:98289406-98295706 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027424
 protein coding gene Chr3:110323277-110327874 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028079
 protein coding gene Chr3:95768827-95778346 (+)
PWK/PhJ MGP_PWKPhJ_G0026488
 protein coding gene Chr3:93125959-93126878 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026309
 protein coding gene Chr3:94077792-94082757 (+)
WSB/EiJ MGP_WSBEiJ_G0026842
 protein coding gene Chr3:96166318-96167117 (+)



Homology
more
  • Human Ortholog
    SF3B4, splicing factor 3b subunit 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SF3B4, splicing factor 3b subunit 4
  • Synonyms
    AFD1, Hsh49, SAP49, SF3b49
  • Links
    NCBI Gene ID: 10262
    neXtProt AC: NX_Q15427
    UniProt: Q15427

  • Chr Location
    1q21.2; chr1:149923317-149927803 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with human SF3B4 associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    10 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 a null allele die prior to implantation. Mice heterozygous for the allele exhibit flat heads, posterior vertebral transformations, and reduced cell proliferation in the forebrain.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • 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
non-membrane-bounded 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
    809
  • Tissues
    86
  • cDNA Data
    75
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 107701 NCBI Gene Model | MGI Sequence Detail 5059 C57BL/6J ±  kb
    transcript NM_153053 RefSeq | MGI Sequence Detail 1741 C57BL/6  
    polypeptide Q8QZY9 UniProt | EBI | MGI Sequence Detail 424 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 80
      cDNA 75
      Primer pair 4
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-39579
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 6
      Phenotypes 10
    • Earliest
      J:39334 Ruiz-Lozano P, et al., Developmental expression of the murine spliceosome-associated protein mSAP49. Dev Dyn. 1997 Apr;208(4):482-90
    • Latest
      J:338694 Kumar S, et al., Sf3b4 regulates chromatin remodeler splicing and Hox expression. Differentiation. 2023 May-Jun;131:59-73
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory