• Gene id: 23336

Gene Summary

• Gene Symbol: SYNM   Gene   UCSC   Ensembl
• Aliases: DMN, SYN
• Gene name: synemin
• Alternate names: synemin, desmuslin, synemin alpha, synemin beta, synemin, intermediate filament protein,
• Gene location: 15q26.3 (99105068: 99136585)     Exons: 6     NC_000015.10
• Gene summary(Entrez): 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 linka
• OMIM: 606087

Protein Summary

• Protein general information: O15061  
  • Name: Synemin (Desmuslin)
  • Length: 1565  
  • Mass: 172,768
• Sequence:

  MLSWRLQTGPEKAELQELNARLYDYVCRVRELERENLLLEEELRGRRGREGLWAEGQARCAEEARSLRQQLDELS
  WATALAEGERDALRRELRELQRLDAEERAARGRLDAELGAQQRELQEALGARAALEALLGRLQAERRGLDAAHER
  DVRELRARAASLTMHFRARATGPAAPPPRLREVHDSYALLVAESWRETVQLYEDEVRELEEALRRGQESRLQAEE
  ETRLCAQEAEALRREALGLEQLRARLEDALLRMREEYGIQAEERQRAIDCLEDEKATLTLAMADWLRDYQDLLQV
  KTGLSLEVATYRALLEGESNPEIVIWAEHVENMPSEFRNKSYHYTDSLLQRENERNLFSRQKAPLASFNHSSALY
  SNLSGHRGSQTGTSIGGDARRGFLGSGYSSSATTQQENSYGKAVSSQTNVRTFSPTYGLLRNTEAQVKTFPDRPK
  AGDTREVPVYIGEDSTIARESYRDRRDKVAAGASESTRSNERTVILGKKTEVKATREQERNRPETIRTKPEEKMF
  DSKEKASEERNLRWEELTKLDKEARQRESQQMKEKAKEKDSPKEKSVREREVPISLEVSQDRRAEVSPKGLQTPV
  KDAGGGTGREAEARELRFRLGTSDATGSLQGDSMTETVAENIVTSILKQFTQSPETEASADSFPDTKVTYVDRKE
  LPGERKTKTEIVVESKLTEDVDVSDEAGLDYLLSKDIKEVGLKGKSAEQMIGDIINLGLKGREGRAKVVNVEIVE
  EPVSYVSGEKPEEFSVPFKVEEVEDVSPGPWGLVKEEEGYGESDVTFSVNQHRRTKQPQENTTHVEEVTEAGDSE
  GEQSYFVSTPDEHPGGHDRDDGSVYGQIHIEEESTIRYSWQDEIVQGTRRRTQKDGAVGEKVVKPLDVPAPSLEG
  DLGSTHWKEQARSGEFHAEPTVIEKEIKIPHEFHTSMKGISSKEPRQQLVEVIGQLEETLPERMREELSALTREG
  QGGPGSVSVDVKKVQGAGGSSVTLVAEVNVSQTVDADRLDLEELSKDEASEMEKAVESVVRESLSRQRSPAPGSP
  DEEGGAEAPAAGIRFRRWATRELYIPSGESEVAGGASHSSGQRTPQGPVSATVEVSSPTGFAQSQVLEDVSQAAR
  HIKLGPSEVWRTERMSYEGPTAEVVEVSAGGDLSQAASPTGASRSVRHVTLGPGQSPLSREVIFLGPAPACPEAW
  GSPEPGPAESSADMDGSGRHSTFGCRQFHAEKEIIFQGPISAAGKVGDYFATEESVGTQTSVRQLQLGPKEGFSG
  QIQFTAPLSDKVELGVIGDSVHMEGLPGSSTSIRHISIGPQRHQTTQQIVYHGLVPQLGESGDSESTVHGEGSAD
  VHQATHSHTSGRQTVMTEKSTFQSVVSESPQEDSAGDTSGAEMTSGVSRSFRHIRLGPTETETSEHIAIRGPVSR
  TFVLAGSADSPELGKLADSSRTLRHIAPGPKETSFTFQMDVSNVEAIRSRTQEAGALGVSDRGSWRDADSRNDQA
  VGVSFKASAGEGDQAHREQGKEQAMFDKKVQLQRMVDQRSVISDEKKVALLYLDNEEEENDGHWF

• Structural information:
  • Protein Domains: IF (11-322)
  • Interpro: IPR001664  IPR018039  IPR030634  
  • Prosite: PS00226 PS51842
  • STRING: ENSP00000336775
• Other Databases: GeneCards:  SYNM  Malacards:  SYNM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005200	structural constituent of cytoskeleton	IDA	molecular function
GO:0005200	structural constituent of cytoskeleton	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005882	intermediate filament	NAS	cellular component
GO:0005882	intermediate filament	IDA	cellular component
GO:0005912	adherens junction	IDA	cellular component
GO:0008307	structural constituent of muscle	IDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0017166	vinculin binding	IDA	molecular function
GO:0019215	intermediate filament binding	ISS	molecular function
GO:0043034	costamere	IDA	cellular component
GO:0043034	costamere	IDA	cellular component
GO:0045104	intermediate filament cytoskeleton organization	TAS	biological process
GO:0060053	neurofilament cytoskeleton	TAS	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005200	structural constituent of cytoskeleton	IDA	molecular function
GO:0005200	structural constituent of cytoskeleton	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005882	intermediate filament	NAS	cellular component
GO:0005882	intermediate filament	IDA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005912	adherens junction	IDA	cellular component
GO:0008307	structural constituent of muscle	IEA	molecular function
GO:0008307	structural constituent of muscle	IDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0017166	vinculin binding	IDA	molecular function
GO:0019215	intermediate filament binding	IEA	molecular function
GO:0019215	intermediate filament binding	ISS	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0043034	costamere	IDA	cellular component
GO:0043034	costamere	IDA	cellular component
GO:0045104	intermediate filament cytoskeleton organization	IEA	biological process
GO:0045104	intermediate filament cytoskeleton organization	TAS	biological process
GO:0060053	neurofilament cytoskeleton	IEA	cellular component
GO:0060053	neurofilament cytoskeleton	TAS	cellular component
GO:0005200	structural constituent of cytoskeleton	IDA	molecular function
GO:0005200	structural constituent of cytoskeleton	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005882	intermediate filament	NAS	cellular component
GO:0005882	intermediate filament	IDA	cellular component
GO:0005912	adherens junction	IDA	cellular component
GO:0008307	structural constituent of muscle	IDA	molecular function
GO:0017166	vinculin binding	IDA	molecular function
GO:0019215	intermediate filament binding	ISS	molecular function
GO:0043034	costamere	IDA	cellular component
GO:0043034	costamere	IDA	cellular component
GO:0045104	intermediate filament cytoskeleton organization	TAS	biological process
GO:0060053	neurofilament cytoskeleton	TAS	cellular component

Diseases

Associated diseases	References
Male factor infertility	MIK: 21898990
Asthenozoospermia	MIK: 21898990
Asthenozoospermia	MIK: 21898990
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21898990	Asthenospermia				Male infertility	KIF3B MYO15A KIF6 KIF26B KIF3A DNHD2 DMN DYNC2H1 STARD9 MYOHD1 and TPM1
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq