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    SERF2 small EDRK-rich factor 2 [ Homo sapiens (human) ]

    Gene ID: 10169, updated on 9-Jun-2024

    Summary

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    Official Symbol
    SERF2provided by HGNC
    Official Full Name
    small EDRK-rich factor 2provided by HGNC
    Primary source
    HGNC:HGNC:10757
    See related
    Ensembl:ENSG00000140264 MIM:605054; AllianceGenome:HGNC:10757
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM2C; 4F5REL; H4F5REL; HsT17089
    Summary
    Involved in protein destabilization. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in prostate (RPKM 57.5), colon (RPKM 53.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SERF2 in Genome Data Viewer
    Location:
    15q15.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43777086..43796089)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41584446..41603452)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (44069284..44088287)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene CATSPER2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9322 Neighboring gene protein disulfide isomerase family A member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44068605-44069133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9324 Neighboring gene elongation factor for RNA polymerase II 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44081221-44081720 Neighboring gene SERF2-C15orf63 readthrough Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:44084013-44085212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44085666-44086519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44087241-44087742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44087743-44088242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44091515-44092215 Neighboring gene microRNA 1282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44092216-44092916 Neighboring gene serine incorporator 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9330 Neighboring gene huntingtin interacting protein K Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:44104820-44106019 Neighboring gene microfibril associated protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:44116704-44117335

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Blocking BE301622 gene expression by RNAi initiates differentiation of neural stem cells in rat. Wen T, et al. Cell Biochem Funct, 2007 Nov-Dec. PMID 16927404
    2. The cellular modifier MOAG-4/SERF drives amyloid formation through charge complementation. Pras A, et al. EMBO J, 2021 Nov 2. PMID 34617299, Free PMC Article
    3. Structural insights into pro-aggregation effects of C. elegans CRAM-1 and its human ortholog SERF2. Balasubramaniam M, et al. Sci Rep, 2018 Oct 5. PMID 30291272, Free PMC Article
    4. Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity. van Ham TJ, et al. Cell, 2010 Aug 20. PMID 20723760
    5. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Scharf JM, et al. Nat Genet, 1998 Sep. PMID 9731538

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Backbone 1H, 13C, and 15N chemical shift assignments for human SERF2.
      Title: Backbone 1H, 13C, and 15N chemical shift assignments for human SERF2.
    2. The cellular modifier MOAG-4/SERF drives amyloid formation through charge complementation.
      Title: The cellular modifier MOAG-4/SERF drives amyloid formation through charge complementation.
    3. Atomistic molecular-dynamic simulations predict spontaneous unfolding of SERF2, and computational large-scale protein-protein interactions predict its stable binding to ubiquitins. SERF2 is also predicted to bind to most proteins screened at random, although with lower average stability than to ubiquitins, suggesting roles in aggregation initiation and/or progression.
      Title: Structural insights into pro-aggregation effects of C. elegans CRAM-1 and its human ortholog SERF2.
    4. The human orthologs of MOAG-4, SERF2 and SERF1A, are ubiquitously expressed, consistent with a role in a general cellular pathway.
      Title: Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20431, FLJ37527, FLJ38557, MGC48826

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    small EDRK-rich factor 2
    Names
    gastric cancer-related protein VRG107
    protein 4F5-related

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001018108.4 → NP_001018118.1  small EDRK-rich factor 2 isoform c

      See identical proteins and their annotated locations for NP_001018118.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct and shorter C-terminus, compared to isoform a. Both variants 3 and 4 encode isoform c.
      Source sequence(s)
      AC018512, BC008214, BM970646
      Consensus CDS
      CCDS32218.1
      UniProtKB/Swiss-Prot
      A6NL45, B5MCG1, B9A026, O75918, O88891, P84101, Q9BZH7
      Related
      ENSP00000249786.4, ENST00000249786.9
      Conserved Domains (1) summary
      pfam04419
      Location:1 → 37
      4F5; 4F5 protein family

    2. NM_001199875.1 → NP_001186804.1  small EDRK-rich factor 2 isoform a

      See identical proteins and their annotated locations for NP_001186804.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC018512, AK307547, BC009869, BM970646
      Consensus CDS
      CCDS55963.1
      UniProtKB/Swiss-Prot
      P84101
      Related
      ENSP00000387187.2, ENST00000409960.6
      Conserved Domains (1) summary
      pfam04419
      Location:1 → 37
      4F5; 4F5 protein family

    3. NM_001199876.1 → NP_001186805.1  small EDRK-rich factor 2 isoform b

      See identical proteins and their annotated locations for NP_001186805.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AC018512, BC009869, BM970646, BP317864
      Consensus CDS
      CCDS55964.1
      UniProtKB/Swiss-Prot
      P84101
      Related
      ENSP00000339647.5, ENST00000339624.9
      Conserved Domains (1) summary
      pfam04419
      Location:1 → 37
      4F5; 4F5 protein family

    4. NM_001199877.2 → NP_001186806.1  small EDRK-rich factor 2 isoform c

      See identical proteins and their annotated locations for NP_001186806.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct and shorter C-terminus, compared to isoform a. Both variants 3 and 4 encode isoform c.
      Source sequence(s)
      AC018512, BC009869, BM970646, BQ061048
      Consensus CDS
      CCDS32218.1
      UniProtKB/Swiss-Prot
      A6NL45, B5MCG1, B9A026, O75918, O88891, P84101, Q9BZH7
      Related
      ENSP00000370764.1, ENST00000381359.5
      Conserved Domains (1) summary
      pfam04419
      Location:1 → 37
      4F5; 4F5 protein family

    5. NM_001199878.2 → NP_001186807.1  small EDRK-rich factor 2 isoform d

      See identical proteins and their annotated locations for NP_001186807.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream start codon, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC018512, BI260545, BM970646, DA302996
      Consensus CDS
      CCDS55965.1
      UniProtKB/Swiss-Prot
      P84101
      Related
      ENSP00000384300.1, ENST00000403425.5

    RNA

    1. NR_037672.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site and lacks a segment of the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC018512, BC009869, BM970646, DB060650

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      43777086..43796089
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      41584446..41603452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_005770.5: Suppressed sequence

      Description
      NM_005770.5: This RefSeq was permanently suppressed because it contains the wrong CDS.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P84101.1 GenPept UniProtKB/Swiss-Prot:P84101

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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