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    SYNM synemin [ Homo sapiens (human) ]

    Gene ID: 23336, updated on 3-Nov-2024

    Summary

    Official Symbol
    SYNMprovided by HGNC
    Official Full Name
    syneminprovided by HGNC
    Primary source
    HGNC:HGNC:24466
    See related
    Ensembl:ENSG00000182253 MIM:606087; AllianceGenome:HGNC:24466
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DMN; SYN
    Summary
    The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in esophagus (RPKM 95.9), prostate (RPKM 82.3) and 15 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SYNM in Genome Data Viewer
    Location:
    15q26.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (99105080..99141767)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (96869529..96908995)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (99645286..99675798)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10145 Neighboring gene pyroglutamyl-peptidase I like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6859 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99558507-99559282 Neighboring gene leukemia-associated non-coding IGF1R activator RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99601057-99601658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99601659-99602258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99640383-99641189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6865 Neighboring gene SYNM antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99676969-99677470 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:99694074-99694869 Neighboring gene TTC23 antisense RNA 1 Neighboring gene tetratricopeptide repeat domain 23 Neighboring gene MPRA-validated peak2445 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99754475-99754975 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:99758119-99759318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6866 Neighboring gene heat shock protein 90 beta family member 2, pseudogene Neighboring gene leucine rich repeat containing 28 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 62

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0353

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables intermediate filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables intermediate filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables structural constituent of cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables structural constituent of muscle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables structural constituent of muscle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables vinculin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables vinculin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in fast-twitch skeletal muscle fiber contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intermediate filament cytoskeleton organization TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in costamere IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in costamere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intermediate filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intermediate filament NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    is_active_in neurofilament cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neurofilament cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    synemin
    Names
    desmuslin
    synemin alpha
    synemin beta
    synemin, intermediate filament protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008210.2 RefSeqGene

      Range
      11867..42382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_415

    mRNA and Protein(s)

    1. NM_015286.6NP_056101.5  synemin isoform B

      See identical proteins and their annotated locations for NP_056101.5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) lacks an internal segment of the coding region, compared to variant A. It maintains the reading frame and encodes a shorter isoform (B), compared to isoform A.
      Source sequence(s)
      AB002351, AC036108, AW292788
      Consensus CDS
      CCDS73786.1
      UniProtKB/TrEMBL
      A0A075B7B1
      Related
      ENSP00000472953.1, ENST00000594047.2
      Conserved Domains (2) summary
      pfam00038
      Location:11318
      Filament; Intermediate filament protein
      cl00514
      Location:59169
      Nitro_FMN_reductase; Proteins of this family catalyze the reduction of flavin or nitrocompounds using NAD(P)H as electron donor in a obligatory two-electron transfer, utilizing FMN or FAD as cofactor. They are often found to be homodimers. Enzymes of this family are ...
    2. NM_145728.3NP_663780.2  synemin isoform A

      See identical proteins and their annotated locations for NP_663780.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) encodes the longer isoform (A).
      Source sequence(s)
      AB002351, AC036108, AW292788
      Consensus CDS
      CCDS73787.1
      UniProtKB/Swiss-Prot
      A7E2Y2, O15061, Q2TBJ4, Q5NJJ9, Q8TE61, Q8TE62
      Related
      ENSP00000336775.7, ENST00000336292.11
      Conserved Domains (2) summary
      pfam00038
      Location:11318
      Filament; Intermediate filament protein
      cl00514
      Location:59169
      Nitro_FMN_reductase; Proteins of this family catalyze the reduction of flavin or nitrocompounds using NAD(P)H as electron donor in a obligatory two-electron transfer, utilizing FMN or FAD as cofactor. They are often found to be homodimers. Enzymes of this family are ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      99105080..99141767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022035.2XP_016877524.1  synemin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      96869529..96908995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377622.1XP_054233597.1  synemin isoform X1