Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SERGEF Gene

Aliases for SERGEF Gene

  • Secretion Regulating Guanine Nucleotide Exchange Factor 2 3 5
  • Deafness Locus-Associated Putative Guanine Nucleotide Exchange Factor 3 4
  • Guanine Nucleotide Exchange Factor-Related Protein 3 4
  • DELGEF 3 4
  • Gnefr 3 4
  • Deafness Locus Associated Putative Guanine Nucleotide Exchange Factor 3

External Ids for SERGEF Gene

Previous GeneCards Identifiers for SERGEF Gene

  • GC11M017492

Summaries for SERGEF Gene

GeneCards Summary for SERGEF Gene

SERGEF (Secretion Regulating Guanine Nucleotide Exchange Factor) is a Protein Coding gene. GO annotations related to this gene include Ran guanyl-nucleotide exchange factor activity. An important paralog of this gene is WBSCR16.

UniProtKB/Swiss-Prot for SERGEF Gene

  • Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERGEF Gene

Genomics for SERGEF Gene

Regulatory Elements for SERGEF Gene

Enhancers for SERGEF Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SERGEF on UCSC Golden Path with GeneCards custom track

Promoters for SERGEF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SERGEF on UCSC Golden Path with GeneCards custom track

Genomic Location for SERGEF Gene

17,788,048 bp from pter
18,013,162 bp from pter
225,115 bases
Minus strand

Genomic View for SERGEF Gene

Genes around SERGEF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERGEF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERGEF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERGEF Gene

Proteins for SERGEF Gene

  • Protein details for SERGEF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Secretion-regulating guanine nucleotide exchange factor
    Protein Accession:
    Secondary Accessions:
    • Q9UGK9

    Protein attributes for SERGEF Gene

    458 amino acids
    Molecular mass:
    48981 Da
    Quaternary structure:
    • Interacts with SEC5. The interaction occurs only in the presence of magnesium or manganese and is stimulated by dCTP or GTP.

    Alternative splice isoforms for SERGEF Gene


neXtProt entry for SERGEF Gene

Proteomics data for SERGEF Gene at MOPED

Post-translational modifications for SERGEF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SERGEF Gene

Domains & Families for SERGEF Gene

Protein Domains for SERGEF Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 7 RCC1 repeats.
  • Contains 7 RCC1 repeats.
genes like me logo Genes that share domains with SERGEF: view

No data available for Gene Families for SERGEF Gene

Function for SERGEF Gene

Molecular function for SERGEF Gene

UniProtKB/Swiss-Prot Function:
Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process.
genes like me logo Genes that share phenotypes with SERGEF: view

Animal Model Products

miRNA for SERGEF Gene

miRTarBase miRNAs that target SERGEF

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SERGEF Gene

Localization for SERGEF Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERGEF Gene

Cytoplasm. Nucleus.

Subcellular locations from

Jensen Localization Image for SERGEF Gene COMPARTMENTS Subcellular localization image for SERGEF gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2

No data available for Gene Ontology (GO) - Cellular Components for SERGEF Gene

Pathways & Interactions for SERGEF Gene

SuperPathways for SERGEF Gene

No Data Available

Gene Ontology (GO) - Biological Process for SERGEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity TAS 10571079
genes like me logo Genes that share ontologies with SERGEF: view

No data available for Pathways by source and SIGNOR curated interactions for SERGEF Gene

Drugs & Compounds for SERGEF Gene

(5) Drugs for SERGEF Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Manganese Pharma 32
Magnesium Nutra 0

(1) Additional Compounds for SERGEF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERGEF: view

Transcripts for SERGEF Gene

Unigene Clusters for SERGEF Gene

Secretion regulating guanine nucleotide exchange factor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SERGEF Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - -
SP2: - - -
SP3: - - - - - -
SP4: - -
SP5: - - - - - - -
SP6: - - -
SP7: -

Relevant External Links for SERGEF Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SERGEF Gene

mRNA expression in normal human tissues for SERGEF Gene

Protein differential expression in normal tissues from HIPED for SERGEF Gene

This gene is overexpressed in Retina (31.0), Pancreas (13.2), and CD8 Tcells (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SERGEF Gene

SOURCE GeneReport for Unigene cluster for SERGEF Gene Hs.32470

genes like me logo Genes that share expression patterns with SERGEF: view

Protein tissue co-expression partners for SERGEF Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SERGEF Gene

Orthologs for SERGEF Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SERGEF Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SERGEF 35
  • 84.57 (n)
  • 79.91 (a)
  • 79 (a)
(Canis familiaris)
Mammalia SERGEF 35
  • 88.81 (n)
  • 84.93 (a)
(Mus musculus)
Mammalia Sergef 35
  • 81.13 (n)
  • 75.64 (a)
Sergef 16
Sergef 36
  • 73 (a)
(Pan troglodytes)
Mammalia SERGEF 35
  • 99.34 (n)
  • 98.47 (a)
  • 98 (a)
(Rattus norvegicus)
Mammalia Sergef 35
  • 80.66 (n)
  • 76.26 (a)
(Monodelphis domestica)
Mammalia SERGEF 36
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia SERGEF 36
  • 57 (a)
(Gallus gallus)
Aves SERGEF 35
  • 67.56 (n)
  • 63.1 (a)
  • 60 (a)
(Anolis carolinensis)
Reptilia SERGEF 36
  • 58 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC146459 35
  • 56.73 (n)
  • 49.36 (a)
Str.14264 35
(Danio rerio)
Actinopterygii sergef 35
  • 53.71 (n)
  • 51.74 (a)
sergef 36
  • 47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008272 35
  • 45.31 (n)
  • 37.86 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7420 35
  • 45.03 (n)
  • 34.5 (a)
CG7420 36
  • 30 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15906g 35
  • 42.84 (n)
  • 30.87 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATS1 35
  • 42.64 (n)
  • 30.74 (a)
SRM1 36
  • 16 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00469 35
  • 44.21 (n)
  • 34.15 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC10F6.04 35
  • 44.52 (n)
  • 31.58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2363 36
  • 16 (a)
Species with no ortholog for SERGEF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SERGEF Gene

Gene Tree for SERGEF (if available)
Gene Tree for SERGEF (if available)

Paralogs for SERGEF Gene

Paralogs for SERGEF Gene

genes like me logo Genes that share paralogs with SERGEF: view

Variants for SERGEF Gene

Sequence variations from dbSNP and Humsavar for SERGEF Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_017156 -
VAR_017157 -
rs519288 -- 17,903,207(+) TAAAC(C/T)CTGCA intron-variant
rs521044 -- 17,903,031(-) TAATG(C/G)CAGAT intron-variant
rs524657 -- 17,909,204(+) AGATT(A/C)TTCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SERGEF Gene

Variant ID Type Subtype PubMed ID
nsv509390 CNV Insertion 20534489
nsv516767 CNV Loss 19592680
nsv832078 CNV Loss 17160897
nsv515890 CNV Loss 19592680
nsv526501 CNV Loss 19592680
nsv897026 CNV Gain 21882294
esv1955784 CNV Deletion 18987734
esv2744162 CNV Deletion 23290073
nsv832079 CNV Loss 17160897
esv2744163 CNV Deletion 23290073
esv5041 CNV Deletion 18987735
esv2101877 CNV Deletion 18987734
esv2744165 CNV Deletion 23290073
esv989849 CNV Deletion 20482838
esv1127023 CNV Deletion 17803354

Variation tolerance for SERGEF Gene

Residual Variation Intolerance Score: 76.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.74; 78.81% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SERGEF Gene

Disorders for SERGEF Gene

Relevant External Links for SERGEF

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for SERGEF Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SERGEF Gene

Publications for SERGEF Gene

  1. DelGEF, a homologue of the Ran guanine nucleotide exchange factor RanGEF, binds to the exocyst component Sec5 and modulates secretion. (PMID: 12459492) Sjoelinder M. … Ponstingl H. (FEBS Lett. 2002) 2 3 4 23 67
  2. Characterisation of an evolutionary conserved protein interacting with the putative guanine nucleotide exchange factor DelGEF and modulating secretion. (PMID: 14980502) Sjoelinder M. … Ponstingl H. (Exp. Cell Res. 2004) 3 23
  3. DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness. (PMID: 10571079) Uhlmann J. … Ponstingl H. (FEBS Lett. 1999) 2 3
  4. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3

Products for SERGEF Gene

Sources for SERGEF Gene