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Gene: SF3B4 (splicing factor 3b subunit 4) Homo sapiens
Symbol: SF3B4
Name: splicing factor 3b subunit 4
Description: Exhibits splicing factor binding activity. Involved in mRNA splicing, via spliceosome. Localizes to U12-type spliceosomal complex and U2-type precatalytic spliceosome. Implicated in Nager acrofacial dysostosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acrofacial dysostosis 1, Nager type; AFD1; Hsh49; MGC10828; pre-mRNA splicing factor SF3b 49 kDa subunit; pre-mRNA-splicing factor SF3b 49 kDa subunit; SAP 49; SAP49; SF3b49; SF3b50; spliceosomal protein; spliceosome-associated protein (U2 snRNP); spliceosome-associated protein 49; splicing factor 3b, subunit 4, 49kD; splicing factor 3b, subunit 4, 49kDa
Mus musculus (house mouse) : Sf3b4 (splicing factor 3b, subunit 4)  MGI  Alliance
Rattus norvegicus (Norway rat) : Sf3b4 (splicing factor 3b, subunit 4)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Sf3b4 (splicing factor 3b subunit 4)
Pan paniscus (bonobo/pygmy chimpanzee) : SF3B4 (splicing factor 3b subunit 4)
Canis lupus familiaris (dog) : SF3B4 (splicing factor 3b subunit 4)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Sf3b4 (splicing factor 3b subunit 4)
Sus scrofa (pig) : SF3B4 (splicing factor 3b subunit 4)
Chlorocebus sabaeus (African green monkey) : SF3B4 (splicing factor 3b subunit 4)
Heterocephalus glaber (naked mole-rat) : Sf3b4 (splicing factor 3b subunit 4)
more info ...
Related Pseudogenes: SF3B4P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl1149,923,317 - 149,927,803 (-)EnsemblGRCh38hg38GRCh38
GRCh381149,923,317 - 149,927,803 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371149,895,209 - 149,901,449 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361148,161,835 - 148,166,326 (-)NCBINCBI36hg18NCBI36
Build 341146,708,283 - 146,712,775NCBI
Celera1123,011,181 - 123,015,672 (-)NCBI
Cytogenetic Map1q21.2NCBI
HuRef1121,275,693 - 121,280,628 (-)NCBIHuRef
CHM1_11151,291,443 - 151,296,378 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on SF3B4
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1320131
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.