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Aliases for SERGEF Gene

Aliases for SERGEF Gene

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

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 , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G018011 1.3 ENCODE dbSUPER 42.5 +0.6 623 3.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF548 KLF13 SERGEF SAAL1 SNORD14B SNORD14A GTF2H1 ENSG00000256361 GC11P017952
GH11G017921 0.9 Ensembl ENCODE 40.3 +91.1 91108 0.7 ESRRA CEBPB MAFG BACH1 CEBPG JUND ZNF316 MAFF POLR2A GATA2 SERGEF GC11P017950 GC11P017887
GH11G017999 0.9 dbSUPER 39.7 +12.2 12195 3.5 ELF3 HNRNPUL1 FOXA2 ATF1 MLX ARID4B THRB ZSCAN9 RARA ZNF121 SERGEF SAAL1 HIGD1AP5 GC11P017952
GH11G017985 1.1 ENCODE dbSUPER 22.3 +26.8 26810 1.8 ELF3 SOX13 HNRNPUL1 CTCF SAP130 CEBPG ZNF644 ZNF7 TEAD3 NCOR1 SERGEF MYOD1 SAAL1 HIGD1AP5 GC11P017952
GH11G017953 0.7 ENCODE 24.6 +58.7 58700 1.3 TAF1 MAX RAD21 FOXA1 NR2F2 GABPA YY1 JUND ATF3 HNF4G SERGEF GC11P017952
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

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

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

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for SERGEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005087 Ran guanyl-nucleotide exchange factor activity TAS 10571079
GO:0005515 protein binding IPI 12459492
genes like me logo Genes that share ontologies with SERGEF: view
genes like me logo Genes that share phenotypes with SERGEF: view

Animal Model Products

CRISPR Products

miRNA for SERGEF Gene

miRTarBase miRNAs that target SERGEF

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERGEF gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for SERGEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10571079
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 10571079
GO:0005829 cytosol IDA --
GO:0016235 aggresome IDA --
genes like me logo Genes that share ontologies with SERGEF: view

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:0007165 signal transduction TAS 10571079
GO:0043547 positive regulation of GTPase activity IEA --
GO:0050709 negative regulation of protein secretion IDA,IEA 12459492
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
Manganese Approved Nutra 34
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SERGEF Gene

Protein tissue co-expression partners for SERGEF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERGEF Gene:


SOURCE GeneReport for Unigene cluster for SERGEF Gene:


Evidence on tissue expression from TISSUES for SERGEF Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with SERGEF: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia SERGEF 34 35
  • 99.34 (n)
(Canis familiaris)
Mammalia SERGEF 34
  • 88.81 (n)
(Bos Taurus)
Mammalia SERGEF 34 35
  • 84.57 (n)
(Mus musculus)
Mammalia Sergef 34 16 35
  • 81.13 (n)
(Rattus norvegicus)
Mammalia Sergef 34
  • 80.66 (n)
(Monodelphis domestica)
Mammalia SERGEF 35
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia SERGEF 35
  • 57 (a)
(Gallus gallus)
Aves SERGEF 34 35
  • 67.56 (n)
(Anolis carolinensis)
Reptilia SERGEF 35
  • 58 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC146459 34
  • 56.73 (n)
Str.14264 34
(Danio rerio)
Actinopterygii sergef 34 35
  • 53.71 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008272 34
  • 45.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7420 34 35
  • 45.03 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15906g 34
  • 42.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATS1 34
  • 42.64 (n)
SRM1 35
  • 16 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC10F6.04 34
  • 44.52 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00469 34
  • 44.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2363 35
  • 16 (a)
Species where no ortholog for SERGEF was found in the sources mined by GeneCards:
  • 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
rs1000009389 -- 17,939,362(+) CACCA(A/G)CCTGT intron-variant
rs1000015826 -- 17,961,336(+) AAACT(G/T)GCAAA intron-variant
rs1000021237 -- 18,007,844(+) TTCCT(C/G)TGCAA intron-variant
rs1000035148 -- 17,846,607(+) GGTCT(A/G)GTCAT intron-variant
rs1000040837 -- 17,812,504(+) CTGCT(A/G)CTGGC intron-variant

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

Variant ID Type Subtype PubMed ID
esv1127023 CNV deletion 17803354
esv1955784 CNV deletion 18987734
esv2101877 CNV deletion 18987734
esv2744162 CNV deletion 23290073
esv2744163 CNV deletion 23290073
esv2744165 CNV deletion 23290073
esv3625480 CNV loss 21293372
esv3625481 CNV loss 21293372
esv3891936 CNV loss 25118596
esv5041 CNV loss 18987735
esv989849 CNV deletion 20482838
nsv1153453 CNV deletion 26484159
nsv477531 CNV novel sequence insertion 20440878
nsv509390 CNV insertion 20534489
nsv515890 CNV loss 19592680
nsv516767 CNV loss 19592680
nsv526501 CNV loss 19592680
nsv553567 CNV gain 21841781
nsv553589 CNV loss 21841781
nsv553590 CNV loss 21841781
nsv832078 CNV loss 17160897
nsv832079 CNV loss 17160897
nsv957369 CNV deletion 24416366

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)

Relevant External Links for SERGEF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 22 64
  2. 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 64
  3. 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 22 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3 64

Products for SERGEF Gene

Sources for SERGEF Gene

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