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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPECC1 Gene

protein-coding   GIFtS: 50
GCID: GC17P019914

Sperm Antigen With Calponin Homology And Coiled-Coil Domains...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Sperm Antigen With Calponin Homology And Coiled-Coil Domains 11 2 3     HCMOGT12
Cytokinesis And Spindle Organization B1 2     NSP2
Nuclear Structure Protein 52 3     cytospin-B2
Sperm Antigen HCMOGT-12 3     Sperm Antigen With Calponin-Like And Coiled Coil Domains 12
CYTSB2 3     Structure Protein NSP5a3a2
NSP52 3     Structure Protein NSP5a3b2
Cytospin B1     Structure Protein NSP5b3a2
Sperm Antigen HCMOGT 11     Structure Protein NSP5b3b2
HCMOGT-12     

External Ids:    HGNC: 306151   Entrez Gene: 925212   Ensembl: ENSG000001284877   OMIM: 6087935   UniProtKB: Q5M7753   

Export aliases for SPECC1 gene to outside databases

Previous GC identifers: GC17P019931 GC17P019853 GC17P019369


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPECC1 Gene:
The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly
expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and
platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia.
Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
(provided by RefSeq, Aug 2011)

GeneCards Summary for SPECC1 Gene: 
SPECC1 (sperm antigen with calponin homology and coiled-coil domains 1) is a protein-coding gene. Diseases associated with SPECC1 include juvenile myelomonocytic leukemia, and leukemia. An important paralog of this gene is MICALL2.

Gene Wiki entry for SPECC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SPECC1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPECC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPECC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPECC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

SPECC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPECC1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P019914:  view genomic region     (about GC identifiers)

Start:
19,912,657 bp from pter      End:
20,222,339 bp from pter
Size:
309,683 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CYTSB_HUMAN, Q5M775 (See protein sequence)
Recommended Name: Cytospin-B  
Size: 1068 amino acids; 118585 Da
Subcellular location: Nucleus
Sequence caution: Sequence=AAH33618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB16440.1; Type=Frameshift; Positions=8;
Secondary accessions: B4DHH0 B7WNS8 Q5IBP1 Q5IBP2 Q5IBP3 Q5IBP4 Q5M772 Q5M773 Q5M774 Q86XT8
Q8N4U4 Q8WU84 Q9HCQ3
Alternative splicing: 5 isoforms:  Q5M775-1   Q5M775-2   Q5M775-3   Q5M775-4   Q5M775-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPECC1: NX_Q5M775

Explore proteomics data for SPECC1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5M775

  • SPECC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPECC1 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001028725.1  NP_001028726.1  NP_001028727.1  NP_001230367.1  NP_001230368.1  NP_690868.3  

    ENSEMBL proteins: 
     ENSP00000378898   ENSP00000463006   ENSP00000461918   ENSP00000464489   ENSP00000462266  
     ENSP00000464639   ENSP00000378900   ENSP00000261503   ENSP00000464341   ENSP00000461944  
     ENSP00000378901   ENSP00000463130   ENSP00000378893   ENSP00000378896   ENSP00000462471  
     ENSP00000462092   ENSP00000463799   ENSP00000462987   ENSP00000438294  

    Human Recombinant Protein Products for SPECC1: 
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    Novus Biologicals SPECC1 Proteins
    Novus Biologicals SPECC1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    SPECC1 for ontologies           About GeneDecksing



    SPECC1 Antibody Products: 
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001715 CH-domain

    Graphical View of Domain Structure for InterPro Entry Q5M775

    ProtoNet protein and cluster: Q5M775

    1 Blocks protein domain: IPB001715 Calponin-like actin-binding

    UniProtKB/Swiss-Prot: CYTSB_HUMAN, Q5M775
    Similarity: Belongs to the cytospin-A family
    Similarity: Contains 1 CH (calponin-homology) domain


    SPECC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    SPECC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPECC1:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPECC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPECC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPECC1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPECC1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPECC1
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate SPECC1:
    hsa-miR-579 hsa-miR-515-5p hsa-miR-31 hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): SPECC1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for SPECC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SPECC1 (NM_001145468)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPECC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPECC1
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                         Customized lentivirus expression plasmids for stable overexpression of SPECC1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPECC1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPECC1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for SPECC1 (Q5M7753 ENSP000002615034) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    CBX7ENSP000002161334STRING: ENSP00000216133
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IDA--

    SPECC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPECC1 (CYTSB)

    Search CenterWatch for drugs/clinical trials and news about SPECC1 / CYTSB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPECC1 gene (6 alternative transcripts): 
    NM_001033553.2  NM_001033554.2  NM_001033555.2  NM_001243438.1  NM_001243439.1  NM_152904.4  

    Unigene Cluster for SPECC1:

    Sperm antigen with calponin homology and coiled-coil domains 1
    Hs.431045  [show with all ESTs]
    Unigene Representative Sequence: NM_152904
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000472876 ENST00000395527 ENST00000583482 ENST00000583528 ENST00000583463
    ENST00000578321 ENST00000582604 ENST00000413167 ENST00000395529(uc010cqx.3 uc002gwr.3 uc002gwu.3 uc002gwt.3)
    ENST00000261503(uc002gwq.3 uc002gws.3) ENST00000581973 ENST00000580934
    ENST00000582063 ENST00000579688 ENST00000395530(uc002gwv.3 uc010vzf.2)
    ENST00000467722 ENST00000395522 ENST00000395525
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPECC1
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate SPECC1:
    hsa-miR-579 hsa-miR-515-5p hsa-miR-31 hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): SPECC1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene ORF clones in mouse, rat for SPECC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SPECC1 (NM_001145468)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPECC1
    Sirion Biotech Customized lentivirus for stable overexpression of SPECC1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPECC1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPECC1

    Additional mRNA sequence: 

    AB041533.1 AK295093.1 AK295811.1 AK298601.1 AK301318.1 AK304186.1 AK314341.1 AY816326.1 
    AY816327.1 AY816328.1 AY816329.1 BC021123.1 BC033618.1 BC037532.1 BC050058.1 

    20 DOTS entries:

    DT.100788816  DT.427887  DT.307603  DT.99979848  DT.120916487  DT.100788815  DT.101972521  DT.100687808 
    DT.120916480  DT.120916556  DT.91928102  DT.100788819  DT.105917  DT.120916483  DT.120916553  DT.40198548 
    DT.40296455  DT.92430871  DT.95262607  DT.97786511 

    24/167 AceView cDNA sequences (see all 167):

    F26933 BE892615 AA489648 BU620252 AI817406 AI369680 CR613965 CF132177 
    CR623676 AI863341 AW160798 BG705817 BF205860 BG700098 AA489755 BE743521 
    BE501245 AI400557 BX428064 BG249150 AW512931 BQ674486 CA450419 CA427363 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SPECC1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:                                                        -                                             
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:                    -     -                                                                           
    SP5:              -                                                                                       


    ECgene alternative splicing isoforms for SPECC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPECC1 expression in normal human tissues (normalized intensities)      SPECC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPECC1 Expression
    About this image


    SPECC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 6 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             monocyte-derived macrophage   
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   

    See SPECC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPECC1

    SOURCE GeneReport for Unigene cluster: Hs.431045

    UniProtKB/Swiss-Prot: CYTSB_HUMAN, Q5M775
    Tissue specificity: Highly expressed in testis. Barely detectable in other tissues. Also highly expressed in some
    cancer cell lines

        SABiosciences Custom PCR Arrays for SPECC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPECC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SPECC1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Specc11 , 5 sperm antigen with calponin homology and coiled-coil more1, 5 84.18(n)1
    85.91(a)1
      11 (37.96 cM)5
    4325721  NM_001029936.21  NP_001025107.11 
     619567795 
    chicken
    (Gallus gallus)
    Aves SPECC11 sperm antigen with calponin homology and coiled-coil more 72.05(n)
    72.74(a)
      417595  XM_415840.3  XP_415840.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3987952 hypothetical protein LOC398795 78.09(n)    BC060019.1 
    zebrafish
    (Danio rerio)
    Actinopterygii specc11 sperm antigen with calponin homology and coiled-coil more 58.7(n)
    55.01(a)
      562343  XM_685735.4  XP_690827.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG133666
    --
    24(a)
    1 → many
    X(504579-514228)


    ENSEMBL Gene Tree for SPECC1 (if available)
    TreeFam Gene Tree for SPECC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPECC1 gene
    MICALL22  MICAL22  EHBP12  MICAL32  SMTNL22  MICALL12  MICALCL2  MICAL12  
    SMTN2  EHBP1L12  SPECC1L2  ENSG000002585552  SMTNL12  
    4 SIMAP similar genes for SPECC1 using alignment to 14 protein entries:     CYTSB_HUMAN (see all proteins):
    DMD    ACTN1    SPECC1L    CYTSA

    SPECC1 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for SPECC1
    PGOHUM00000262969 PGOHUM00000262974 PGOHUM00000262975 PGOHUM00000237300


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5967 SNPs in SPECC1 are shown (see all 5967)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1114696801,2
    C,F--19298422(+) CCAGCC/AGGCCC 1 -- int13Minor allele frequency- A:0.08NA CSA EA 123
    rs99026631,2
    C,F--19298906(+) atggaG/Ccagtc 1 -- int12Minor allele frequency- C:0.07NA EA 122
    rs1121806381,2
    C--19301699(+) TTTCATCACTGGC
    TTCTTTG
    /-
    TCACT
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs558695461,2
    C--19303547(+) TATATT/ATTTTT 1 -- int13Minor allele frequency- A:0.00NA 6
    rs2006502821,2
    --19303547(+) TATAT-/ATTTTT 1 -- int10--------
    rs340127551,2
    C--19315939(+) TATTC-/TTTTTT 1 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs758831931,2
    C--19347477(+) GACTC-/CT    
       T
    /TCT
    CTCTG
    2 -- cds10--------
    rs713574131,2
    C--19347480(+) CTCCTTCT/-CTGGG 1 -- cds11Minor allele frequency- -:0.50NA 2
    rs114030901,2
    C--19348834(+) AGTAGA/-TTTTT 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1422645311,2
    C--19353468(+) GTGTT-/TGTG  
            
    TGTGT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for SPECC1 (19912657 - 20162657 bp, first 250kb of SPECC1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for SPECC1 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2715741CNV Deletion23290073
    esv2715739CNV Deletion23290073
    esv2673344CNV Deletion23128226
    esv2102373CNV Deletion18987734
    esv271574CNV Insertion20981092
    nsv520772CNV Loss19592680
    nsv2003CNV Loss18451855
    nsv907872CNV Loss21882294
    nsv907871CNV Loss21882294
    nsv907869CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608793    OMIM disorders: --

    UniProtKB/Swiss-Prot: CYTSB_HUMAN, Q5M775
  • Note=A chromosomal aberration involving CYTSB may be a cause of juvenile myelomonocytic leukemia.
    Translocation t(5;17)(q33;p11.2) with PDGFRB

  • 2 diseases for SPECC1:    About MalaCards
    juvenile myelomonocytic leukemia    leukemia


    SPECC1 for disorders           About GeneDecksing


    Export disorders for SPECC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SPECC1 gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with SPECC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A gene highly expressed in tumor cells encodes novel structure proteins. (PubMed id 15602574)1, 2, 3 Sang N.... Giordano A. (2004)
    2. HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2). (PubMed id 15087372)1, 2, 3 Morerio C....Panarello C. (2004)
    3. Possible functional role of NSPs in cancer. (PubMed id 18763323)1, 3, 9 D'Agostino L. and Giordano A. (2008)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The P-body component USP52/PAN2 is a novel regulator o f HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (2013)
    8. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 92521 HGNC: 30615 AceView: HCMOGT-1 Ensembl:ENSG00000128487 euGenes: HUgn92521
    ECgene: SPECC1 H-InvDB: SPECC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPECC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPECC1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPECC1 gene:
    Search GeneIP for patents involving SPECC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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