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

Gene ID: 10169, updated on 5-Mar-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
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Genomic context

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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. 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.
  2. 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.
  3. 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

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