Aliases for SERGEF Gene

Aliases for SERGEF Gene

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

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. Gene Ontology (GO) annotations related to this gene include Ran guanyl-nucleotide exchange factor activity. An important paralog of this gene is RPGR.

UniProtKB/Swiss-Prot Summary for SERGEF Gene

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

Additional gene information for SERGEF Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERGEF Gene

Genomics for SERGEF Gene

GeneHancer (GH) Regulatory Elements for SERGEF Gene

Promoters and enhancers for SERGEF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J018010 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 792.4 +0.5 457 3.8 SP1 ZBTB6 RBPJ POLR2A ELF1 L3MBTL2 MNT GTF2F1 ELF3 ZFX SERGEF SAAL1 SNORD14A GTF2H1 SNORD14B SPTY2D1 ENSG00000256361 ENSG00000256282 TSG101 ENSG00000255448
GH11J017075 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 14.3 +935.7 935662 3.8 FOXK2 SIN3A SP1 ZBTB40 SIX5 RBPJ POLR2A ATF1 CREB1 HCFC1 RPS13 SNORD14B lnc-NUCB2-11 lnc-RPS13-1 SNORD14A KCNC1 OR7E14P SERGEF ENSG00000260196 C11orf58
GH11J017985 Enhancer 1.1 Ensembl ENCODE dbSUPER 22.3 +26.8 26786 2 CTCF NR2F6 CREB1 ELF3 CEBPG PPARG HNF1A ZNF644 CEBPA GATAD2A SERGEF MYOD1 SAAL1 HIGD1AP5 RF00994-170 lnc-SERGEF-1
GH11J017972 Enhancer 0.6 Ensembl ENCODE 34.3 +40.0 39961 1.2 RAD21 CTCF SMC3 FOS ZNF143 RF00994-170 SERGEF KCNC1 MYOD1 lnc-SERGEF-1
GH11J017953 Enhancer 0.8 Ensembl ENCODE 25 +59.1 59061 3 FOXA1 RAD21 SP1 RXRA FOXA2 ZNF316 NFE2 JUND ATF3 YY1 SERGEF RF00994-170 lnc-SERGEF-1 lnc-MYOD1-8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERGEF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SERGEF gene promoter:
  • Arnt
  • E47
  • HNF-4alpha1
  • LCR-F1
  • Nkx2-5
  • PPAR-alpha
  • RFX1
  • Tal-1
  • Tal-1beta
  • TBP

Genomic Locations for SERGEF Gene

Genomic Locations for SERGEF Gene
chr11:17,788,048-18,013,162
(GRCh38/hg38)
Size:
225,115 bases
Orientation:
Minus strand
chr11:17,809,595-18,034,709
(GRCh37/hg19)
Size:
225,115 bases
Orientation:
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:
    Q9UGK8-SRGEF_HUMAN
    Recommended name:
    Secretion-regulating guanine nucleotide exchange factor
    Protein Accession:
    Q9UGK8
    Secondary Accessions:
    • Q9UGK9

    Protein attributes for SERGEF Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

Gene Families for SERGEF Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SERGEF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SERGEF Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59192, highly similar to Secretion-regulating guanine nucleotide exchange factor (B4DFC0_HUMAN)
  • Guanine nucleotide exchange factor-related protein (SRGEF_HUMAN)
genes like me logo Genes that share domains with SERGEF: view

No data available for Graphical View of Domain Structure 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.

Phenotypes From GWAS Catalog for SERGEF Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERGEF

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

COMPARTMENTS
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 4
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
  • Vesicles (2)
See all subcellular structures

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 IEA,IDA 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

PathCards logo

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:0050709 negative regulation of protein secretion IDA 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
Magnesium Approved, Experimental, Investigational Pharma 0
Manganese Approved Nutra 48
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 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

mRNA/cDNA for SERGEF Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERGEF

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: -
SP8:

Relevant External Links for SERGEF Gene

GeneLoc Exon Structure for
SERGEF
ECgene alternative splicing isoforms for
SERGEF

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, 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:

SERGEF

SOURCE GeneReport for Unigene cluster for SERGEF Gene:

Hs.32470

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

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
chimpanzee
(Pan troglodytes)
Mammalia SERGEF 33 32
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SERGEF 32
  • 88.81 (n)
cow
(Bos Taurus)
Mammalia SERGEF 33 32
  • 84.57 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sergef 17 33 32
  • 81.13 (n)
rat
(Rattus norvegicus)
Mammalia Sergef 32
  • 80.66 (n)
oppossum
(Monodelphis domestica)
Mammalia SERGEF 33
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERGEF 33
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERGEF 33 32
  • 67.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERGEF 33
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC146459 32
  • 56.73 (n)
Str.14264 32
zebrafish
(Danio rerio)
Actinopterygii sergef 33 32
  • 53.71 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008272 32
  • 45.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7420 33 32
  • 45.03 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15906g 32
  • 42.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATS1 32
  • 42.64 (n)
SRM1 33
  • 16 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC10F6.04 32
  • 44.52 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00469 32
  • 44.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2363 33
  • 16 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for SERGEF (if available)
TreeFam:
Gene Tree for SERGEF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERGEF: view image

Paralogs for SERGEF Gene

Paralogs for SERGEF Gene

(1) SIMAP similar genes for SERGEF Gene using alignment to 14 proteins:

  • SRGEF_HUMAN
  • B4DFC0_HUMAN
  • E9PIU4_HUMAN
  • E9PIV0_HUMAN
  • E9PL52_HUMAN
  • E9PMV6_HUMAN
  • E9PR50_HUMAN
  • E9PS70_HUMAN
  • G3V1B4_HUMAN
  • H0YD20_HUMAN
  • H0YDC8_HUMAN
  • H0YE53_HUMAN
  • H0YEL8_HUMAN
  • H0YEV5_HUMAN
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 Variation AA Info Type
rs1000009389 -- 17,939,362(-) A/G intron_variant
rs1000015826 -- 17,961,336(-) G/T intron_variant
rs1000021237 -- 18,007,844(-) C/G intron_variant
rs1000035148 -- 17,846,607(-) G/A intron_variant
rs1000040837 -- 17,812,504(-) G/A 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)

Additional Variant Information for SERGEF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERGEF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERGEF Gene

Disorders for SERGEF Gene

Additional Disease Information for SERGEF

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) Sjölinder M … Ponstingl H (FEBS letters 2002) 2 3 4 23 56
  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 letters 1999) 2 3 4 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. Characterisation of an evolutionary conserved protein interacting with the putative guanine nucleotide exchange factor DelGEF and modulating secretion. (PMID: 14980502) Sjölinder M … Ponstingl H (Experimental cell research 2004) 3 23 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for SERGEF Gene

Sources for SERGEF Gene