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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
  • Gene Overview
    MyGene.info: SF3B4
Location & Maps
more
  • Sequence Map
    Chr3:96172332-96177564 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5233 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 41.65 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SF3B4, splicing factor 3b subunit 4
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SF3B4, splicing factor 3b subunit 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AFD1, Hsh49, SAP49, SF3b49
  • Links
    NCBI Gene ID: 10262
    neXtProt AC: NX_Q15427

  • Chr Location
    1q21.2; chr1:149923317-149928252 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SF3B4 associations

Human Disease Mouse Models
       Acrofacial Dysostosis 1, Nager Type; AFD1   OMIM: 154400
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotype references
  • All Mutations and Alleles
    30
  • Chemically induced (other)
    1
  • Gene trapped
    27
  • Radiation induced
    1
  • Targeted
    1
  • Genomic Mutations
    2 involving Sf3b4
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021896 VEGA Gene Model | MGI Sequence Detail 5233 C57BL/6J ±  kb
transcript OTTMUST00000051999 VEGA | MGI Sequence Detail 1915 Not Applicable  
polypeptide OTTMUSP00000024556 VEGA | MGI Sequence Detail 424 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    46 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000014738 splicing factor 3B subunit 4
  • InterPro Domains
    IPR012677 Nucleotide-binding alpha-beta plait domain
    IPR000504 RNA recognition motif domain
Molecular
Reagents
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  • All nucleic 75
    cDNA 74
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-39579
References
more
  • Summaries
    All 30
    Developmental Gene Expression 3
    Gene Ontology 4
    Phenotypes 7
  • 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:204486 Zheng S, et al., A broadly applicable high-throughput screening strategy identifies new regulators of Dlg4 (Psd-95) alternative splicing. Genome Res. 2013 Jun;23(6):998-1007

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory