Aliases for SERF2 Gene

Aliases for SERF2 Gene

  • Small EDRK-Rich Factor 2 2 3 4 5
  • FAM2C 2 3 4
  • Gastric Cancer-Related Protein VRG107 3 4
  • Protein 4F5-Related 3 4
  • HsT17089 2 3
  • H4F5rel 2 4
  • 4F5REL 2 3
  • H4F5REL 3
  • 4F5rel 4
  • SERF2 5

External Ids for SERF2 Gene

Previous GeneCards Identifiers for SERF2 Gene

  • GC15P039436
  • GC15P036965
  • GC15P041648
  • GC15P041785
  • GC15P041856
  • GC15P044069
  • GC15P020907

Summaries for SERF2 Gene

GeneCards Summary for SERF2 Gene

SERF2 (Small EDRK-Rich Factor 2) is a Protein Coding gene. Diseases associated with SERF2 include Bestrophinopathy, Autosomal Recessive. An important paralog of this gene is SERF1B.

UniProtKB/Swiss-Prot Summary for SERF2 Gene

  • Positive regulator of amyloid protein aggregation and proteotoxicity (PubMed:20723760). Induces conformational changes in amyloid proteins, such as HTT, driving them into compact formations preceding the formation of aggregates (PubMed:20723760).

Gene Wiki entry for SERF2 Gene

Additional gene information for SERF2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERF2 Gene

Genomics for SERF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SERF2 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
GH15J043791 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.4 +19.4 19415 11 CREB1 GATAD2A ATF7 TEAD4 PRDM10 REST ZNF629 TFE3 LEF1 NFKBIZ HYPK SERINC4 piR-33306 SERF2 ELL3 CTDSPL2 RPS3AP47 SPG11 ENSG00000259563 ADAL
GH15J043774 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.5 -545 3.7 SP1 HNRNPL GATAD2A CTCF PRDM10 ZNF629 TFE3 IKZF1 ZNF692 POLR2A ELL3 SERF2 lnc-SERINC4-2 ADAL STRC MFAP1 WDR76 piR-57460-201 ENSG00000262560 PDIA3
GH15J043745 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.8 -29.1 -29050 6.1 SP1 HNRNPL PRDM10 IKZF1 ZNF692 POLR2A BACH1 LARP7 PRDM1 ZNF143 CATSPER2P1 PDIA3 lnc-ELL3-1 ADAL STRCP1 CTDSPL2 WDR76 MFAP1 SPG11 LCMT2
GH15J043434 Enhancer 0.5 ENCODE 10.2 -342.4 -342438 0.4 ZNF766 ZBTB11 GABPA ZNF589 ZNF639 ZSCAN29 TUBGCP4 HYPK MIR1282 SERF2 RF00017-1769 lnc-ZSCAN29-1 TP53BP1
GH15J043754 Enhancer 0.2 Ensembl 12 -22.8 -22785 2.2 STRCP1 STRC SERF2 MIR1282 HYPK CATSPER2P1 PDIA3 lnc-ELL3-1 NONHSAG016722.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERF2

Top Transcription factor binding sites by QIAGEN in the SERF2 gene promoter:
  • AML1a
  • AREB6
  • GATA-1
  • ITF-2
  • Msx-1
  • Pax-4a
  • PPAR-alpha
  • Tal-1
  • Tal-1beta

Genomic Locations for SERF2 Gene

Genomic Locations for SERF2 Gene
chr15:43,777,086-43,804,427
(GRCh38/hg38)
Size:
27,342 bases
Orientation:
Plus strand
chr15:44,069,285-44,094,787
(GRCh37/hg19)
Size:
25,503 bases
Orientation:
Plus strand

Genomic View for SERF2 Gene

Genes around SERF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERF2 Gene

Proteins for SERF2 Gene

  • Protein details for SERF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P84101-SERF2_HUMAN
    Recommended name:
    Small EDRK-rich factor 2
    Protein Accession:
    P84101
    Secondary Accessions:
    • A6NL45
    • B5MCG1
    • B9A026
    • O75918
    • O88891
    • Q9BZH7

    Protein attributes for SERF2 Gene

    Size:
    59 amino acids
    Molecular mass:
    6900 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK07636.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Alternative splice isoforms for SERF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERF2 Gene

Post-translational modifications for SERF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SERF2 Gene

Domains & Families for SERF2 Gene

Gene Families for SERF2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SERF2 Gene

InterPro:
Blocks:
  • Four F5 protein
ProtoNet:

Suggested Antigen Peptide Sequences for SERF2 Gene

GenScript: Design optimal peptide antigens:
  • Protein 4F5-related (SERF2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P84101

UniProtKB/Swiss-Prot:

SERF2_HUMAN :
  • Belongs to the SERF family.
Family:
  • Belongs to the SERF family.
genes like me logo Genes that share domains with SERF2: view

Function for SERF2 Gene

Molecular function for SERF2 Gene

UniProtKB/Swiss-Prot Function:
Positive regulator of amyloid protein aggregation and proteotoxicity (PubMed:20723760). Induces conformational changes in amyloid proteins, such as HTT, driving them into compact formations preceding the formation of aggregates (PubMed:20723760).

Gene Ontology (GO) - Molecular Function for SERF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with SERF2: view
genes like me logo Genes that share phenotypes with SERF2: view

Animal Models for SERF2 Gene

MGI Knock Outs for SERF2:
  • Serf2 Serf2<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERF2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SERF2 Gene

Localization for SERF2 Gene

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 SERF2 gene
Compartment Confidence
nucleus 4
cytosol 4
extracellular 1
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SERF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with SERF2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SERF2 Gene

Pathways & Interactions for SERF2 Gene

PathCards logo

SuperPathways for SERF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SERF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031648 protein destabilization IMP 20723760
genes like me logo Genes that share ontologies with SERF2: view

No data available for Pathways by source and SIGNOR curated interactions for SERF2 Gene

Drugs & Compounds for SERF2 Gene

No Compound Related Data Available

Transcripts for SERF2 Gene

mRNA/cDNA for SERF2 Gene

6 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERF2

Alternative Splicing Database (ASD) splice patterns (SP) for SERF2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d · 4e · 4f · 4g · 4h ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8
SP1: -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - - - -
SP6: - - - - -
SP7:
SP8: - - -
SP9: -
SP10: - - - -

Relevant External Links for SERF2 Gene

GeneLoc Exon Structure for
SERF2

Expression for SERF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SERF2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.4) and Ovary (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SERF2 Gene



Protein tissue co-expression partners for SERF2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERF2

SOURCE GeneReport for Unigene cluster for SERF2 Gene:

Hs.424126

Evidence on tissue expression from TISSUES for SERF2 Gene

  • Lung(4.9)
  • Nervous system(4.7)
  • Pancreas(4.6)
  • Liver(4.3)
  • Heart(4.3)
  • Skin(4.1)
  • Blood(3.4)
  • Intestine(3.4)
  • Muscle(2.8)
  • Eye(2.7)
  • Kidney(2.5)
  • Thyroid gland(2.5)
  • Stomach(2)
genes like me logo Genes that share expression patterns with SERF2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SERF2 Gene

Orthologs for SERF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SERF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SERF2 30
  • 100 (n)
ptr-mir-1282-1 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SERF2 30 31
  • 99.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SERF2 30
  • 99.44 (n)
Rat
(Rattus norvegicus)
Mammalia Serf2 30
  • 97.74 (n)
Mouse
(Mus musculus)
Mammalia Serf2 30 17
  • 97.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5567 30
Zebrafish
(Danio rerio)
Actinopterygii Dr.14289 30
Species where no ortholog for SERF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SERF2 Gene

ENSEMBL:
Gene Tree for SERF2 (if available)
TreeFam:
Gene Tree for SERF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERF2: view image

Paralogs for SERF2 Gene

Paralogs for SERF2 Gene

(2) SIMAP similar genes for SERF2 Gene using alignment to 6 proteins:

  • SERF2_HUMAN
  • B8ZZY7_HUMAN
  • B9A031_HUMAN
  • C9JQZ0_HUMAN
  • F8WBN3_HUMAN
  • F8WBV6_HUMAN
genes like me logo Genes that share paralogs with SERF2: view

Variants for SERF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERF2 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs11269 - p.Asp40Tyr

Additional dbSNP identifiers (rs#s) for SERF2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SERF2 Gene

Variant ID Type Subtype PubMed ID
esv2760028 CNV gain+loss 17122850
nsv1036318 CNV gain 25217958

Variation tolerance for SERF2 Gene

Residual Variation Intolerance Score: 52.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.41; 85.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERF2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERF2 Gene

Disorders for SERF2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SERF2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bestrophinopathy, autosomal recessive
  • arb
- elite association - COSMIC cancer census association via MalaCards
Search SERF2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with SERF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERF2 Gene

Publications for SERF2 Gene

  1. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. (PMID: 9731538) Scharf JM … Kunkel LM (Nature genetics 1998) 2 3 4
  2. Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity. (PMID: 20723760) van Ham TJ … Nollen EA (Cell 2010) 3 4
  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
  4. ATG5 is required for B cell polarization and presentation of particulate antigens. (PMID: 30196744) Arbogast F … Gros F (Autophagy 2019) 3
  5. Structural insights into pro-aggregation effects of C. elegans CRAM-1 and its human ortholog SERF2. (PMID: 30291272) Balasubramaniam M … Shmookler Reis RJ (Scientific reports 2018) 3

Products for SERF2 Gene

Sources for SERF2 Gene