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KHDRBS3 Gene

protein-coding   GIFtS: 56
GCID: GC08P136538

KH Domain Containing, RNA Binding, Signal Transduction Associated...

  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)
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Aliases
KH Domain Containing, RNA Binding, Signal Transduction Associated 31 2     Etle2
SALP2 3 5     T-STAR2
SLM22 3 5     etoile2
Sam68-Like Mammalian Protein 22 3     KH Domain-Containing, RNA-Binding, Signal Transduction-Associated Protein
32
SLM-22 3     Sam68-Like Phosphotyrosine Protein, T-STAR2
RNA-Binding Protein T-Star2 3     Sam68-Like Phosphotyrosine Protein3
TSTAR2 5     ETOILE5

External Ids:    HGNC: 181171   Entrez Gene: 106562   Ensembl: ENSG000001317737   OMIM: 6104215   UniProtKB: O755253   

Export aliases for KHDRBS3 gene to outside databases

Previous GC identifers: GC08P135242 GC08P136579 GC08P136154 GC08P136440 GC08P131785


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KHDRBS3 Gene:
KHDRBS3 (KH domain containing, RNA binding, signal transduction associated 3) is a protein-coding gene. Diseases associated with KHDRBS3 include transvestism, and rocky mountain spotted fever. GO annotations related to this gene include SH3 domain binding and RNA binding. An important paralog of this gene is KHDRBS2.

UniProtKB/Swiss-Prot: KHDR3_HUMAN, O75525
Function: RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA
splice site selection and exon inclusion. May play a role as a negative regulator of cell growth. Inhibits cell
proliferation. Involved in splice site selection of vascular endothelial growth factor. Induces an increased
concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer.
RNA-binding abilities are down-regulated by tyrosine kinase PTK6. Involved in post-transcriptional regulation of
HIV-1 gene expression. Binds preferentially to the 5'-[AU]UAAA-3' motif in vitro

Gene Wiki entry for KHDRBS3 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KHDRBS3 gene promoter:
         GR   p300   NRSF form 1   GR-alpha   NRSF form 2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KHDRBS3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KHDRBS3


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

Entrez Gene cytogenetic band: 8q24.2   Ensembl cytogenetic band:  8q24.23   HGNC cytogenetic band: 8q24.23

KHDRBS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KHDRBS3 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P136538:  view genomic region     (about GC identifiers)

Start:
136,469,700 bp from pter      End:
136,668,965 bp from pter
Size:
199,266 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KHDR3_HUMAN, O75525 (See protein sequence)
Recommended Name: KH domain-containing, RNA-binding, signal transduction-associated protein 3  
Size: 346 amino acids; 38800 Da
Subunit: Self-associates to form homooligomers. Interacts with the splicing regulatory proteins SFRS9, SAFB and
YTHDC1. Interacts also with HNRPL and SLM1/KHDRBS2 (By similarity). Interacts with KHDRBS1, RBMX, RBMY1A1 and
with p85 subunit of PI3-kinase. Interacts also with SIAH1 which promotes targeting for degradation
Secondary accessions: Q6NUL8 Q9UPA8
Alternative splicing: 2 isoforms:  O75525-1   O75525-2   

Explore the universe of human proteins at neXtProt for KHDRBS3: NX_O75525

Explore proteomics data for KHDRBS3 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine residues. Isoform 1 C-terminal region is tyrosine-rich, but isoform 2 lacking this
    C-terminal region is also tyrosine-phosphorylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KHDRBS3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006549.1  
    ENSEMBL proteins: 
     ENSP00000348108   ENSP00000431022   ENSP00000428607   ENSP00000430284   ENSP00000427851  
     ENSP00000427841   ENSP00000428643  

    KHDRBS3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for KHDRBS3

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    LSBio Antibodies in human, mouse, rat for KHDRBS3

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    Cloud-Clone Corp. CLIAs for KHDRBS3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004087 KH_dom

    Graphical View of Domain Structure for InterPro Entry O75525

    ProtoNet protein and cluster: O75525

    UniProtKB/Swiss-Prot: KHDR3_HUMAN, O75525
    Domain: The proline-rich site binds the SH3 domain of the p85 subunit of PI3-kinase
    Similarity: Belongs to the KHDRBS family
    Similarity: Contains 1 KH domain


    KHDRBS3 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KHDR3_HUMAN, O75525
    Function: RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA
    splice site selection and exon inclusion. May play a role as a negative regulator of cell growth. Inhibits cell
    proliferation. Involved in splice site selection of vascular endothelial growth factor. Induces an increased
    concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer.
    RNA-binding abilities are down-regulated by tyrosine kinase PTK6. Involved in post-transcriptional regulation of
    HIV-1 gene expression. Binds preferentially to the 5'-[AU]UAAA-3' motif in vitro
    Induction: Induced in proteinuric diseases. Down-regulated in immortalized fibroblasts isolated after a
    proliferative crisis accompanied with massive cell death

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IDA19561594
    GO:0005515protein binding IPI--
    GO:0017124SH3 domain binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    KHDRBS3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KHDRBS3:
     Increased cell number in G1, a  Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Khdrbs3):
     behavior/neurological  mortality/aging  no phenotypic analysis  reproductive system 

    KHDRBS3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Khdrbs3tm1.2Dell for KHDRBS3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KHDRBS3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KHDRBS3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KHDRBS3

    miRNA
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    miRTarBase miRNAs that target KHDRBS3:
    hsa-mir-215-5p (MIRT024397), hsa-mir-192-5p (MIRT026335)

    Block miRNA regulation of human, mouse, rat KHDRBS3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KHDRBS3 (see all 19):
    hsa-miR-520d-5p hsa-miR-376b hsa-miR-144 hsa-miR-4325 hsa-miR-204 hsa-miR-186 hsa-miR-3662 hsa-miR-31
    SwitchGear 3'UTR luciferase reporter plasmidKHDRBS3 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: KHDRBS3 (NM_006558)
    Sino Biological Human cDNA Clone for KHDRBS3
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KHDRBS3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KHDR3_HUMAN, O75525: Nucleus. Note=Localized in a compartment adjacent to the nucleolus, but distinct from the
    peri-nucleolar one
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    KHDRBS3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KHDRBS3
    Interactions:

        GeneGlobe Interaction Network for KHDRBS3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KHDRBS3 (O755251, 2, 3 ENSP000003481084) via UniProtKB, MINT, STRING, and/or I2D (see all 71)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAHD1Q8TBE02, 3, ENSP000003969764MINT-66350 I2D: score=5 STRING: ENSP00000396976
    LNX1Q8TBB12, 3, ENSP000002639254MINT-66718 I2D: score=5 STRING: ENSP00000263925
    RBM7Q9Y5802, 3, ENSP000003646394MINT-67619 I2D: score=5 STRING: ENSP00000364639
    SIAH1Q8IUQ42, 3, ENSP000003491564MINT-68424 I2D: score=5 STRING: ENSP00000349156
    KHDRBS2Q5VWX12, 3, ENSP000002811564MINT-67800 I2D: score=4 STRING: ENSP00000281156
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0007283spermatogenesis TAS10332027

    KHDRBS3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KHDRBS3 (KHDR3)

    6 Novoseek inferred chemical compound relationships for KHDRBS3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    deoxypyridinoline 50.2 2 14555415 (1)
    hydroxyproline 36.5 1 9355672 (1)
    triiodothyronine 33.5 1 16541206 (1)
    calcium 8.35 3 9115154 (1), 16541206 (1), 16500882 (1)
    alanine 7.64 2 9444780 (1), 15835237 (1)
    tyrosine 0 1 10077576 (1)



    KHDRBS3 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KHDRBS3 gene: 
    NM_006558.1  

    Unigene Cluster for KHDRBS3:

    KH domain containing, RNA binding, signal transduction associated 3
    Hs.444558  [show with all ESTs]
    Unigene Representative Sequence: BX537666
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355849(uc003yuv.3 uc003yuw.3 uc010mek.3) ENST00000524199
    ENST00000520981 ENST00000517394 ENST00000519600 ENST00000517859 ENST00000524282
    ENST00000522079 ENST00000522433 ENST00000518728 ENST00000521461 ENST00000522578

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KHDRBS3 (see all 19):
    hsa-miR-520d-5p hsa-miR-376b hsa-miR-144 hsa-miR-4325 hsa-miR-204 hsa-miR-186 hsa-miR-3662 hsa-miR-31
    SwitchGear 3'UTR luciferase reporter plasmidKHDRBS3 3' UTR sequence
    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KHDRBS3
      QuantiTect SYBR Green Assays in human, mouse, rat KHDRBS3
      QuantiFast Probe-based Assays in human, mouse, rat KHDRBS3

    Additional mRNA sequence: 

    AF051321.1 AF051322.1 AF069681.1 BC032606.2 BC068536.1 BX537666.1 

    10 DOTS entries:

    DT.445615  DT.99953290  DT.100788077  DT.92444378  DT.95271104  DT.40237733  DT.95271103  DT.95074232 
    DT.95305926  DT.92444379 

    Selected AceView cDNA sequences (see all 145):

    AI650382 BE275166 AA954323 AA907358 BX537666 AI239592 BQ672815 BG215534 
    AF051322 AA948596 BQ670932 AA456299 BC032606 CR591014 BX103812 AI638608 
    BQ673257 BG181314 T18913 BQ878314 NM_006558 AF069681 CD244637 AA007604 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KHDRBS3    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b
    SP1:                    -                 -                                             
    SP2:                    -                 -                       -                     
    SP3:                                                                    -               
    SP4:                                                                                    


    ECgene alternative splicing isoforms for KHDRBS3

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KHDRBS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGTAAAAAGG
    KHDRBS3 Expression
    About this image


    KHDRBS3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testis Interstitium
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
    KHDRBS3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KHDRBS3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444558

    UniProtKB/Swiss-Prot: KHDR3_HUMAN, O75525
    Tissue specificity: Ubiquitous with higher expression in testis, skeletal muscle and brain. Expressed in the
    kidney only in podocytes, the glomerular epithelial cells of the kidney. Strongly expressed after meiosis

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KHDRBS3

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for KHDRBS3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Khdrbs31 , 5 KH domain containing, RNA binding, signal transduction more1, 5 89.4(n)1
    97.11(a)1
      15 (30.36 cM)5
    139921  NM_010158.21  NP_034288.21 
     689284205 
    chicken
    (Gallus gallus)
    Aves KHDRBS31 KH domain containing, RNA binding, signal transduction more 82.17(n)
    90.7(a)
      420317  XM_001231271.3  XP_001231272.1 
    lizard
    (Anolis carolinensis)
    Reptilia KHDRBS36
    KH domain containing, RNA binding, signal transduc...
    86(a)
    1 ↔ 1
    4(2226149-2291894)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.113502 Transcribed sequence with moderate similarity to protein more 77.35(n)    137696087 
    zebrafish
    (Danio rerio)
    Actinopterygii khdrbs31 KH domain containing, RNA binding, signal transduction more 67.88(n)
    74.45(a)
      101867535  XM_005172555.1  XP_005172612.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG103843
    qkr58E-11
    quaking related 58E-11 62(a)
    (best of 8)3
    54.69(n)1
    53.29(a)1
      58E23
    375611  NM_079085.41  NP_523809.21 
    worm
    (Caenorhabditis elegans)
    Secernentea K07H8.96
    Y69A2AR.326
    (see all 5)
    Protein Y69A2AR.32, isoform a
    (see all 5)
    22(a)
    22(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    IV(8285175-8286470) WBGene00019509
    IV(2610422-2612442) WBGene00022101
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSL56
    Component of the commitment complex, which defines...
    13(a)
    1 → many
    XII(380822-382252) YLR116W


    ENSEMBL Gene Tree for KHDRBS3 (if available)
    TreeFam Gene Tree for KHDRBS3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KHDRBS3 gene
    KHDRBS22  SF12  KHDRBS12  QKI2  
    3 SIMAP similar genes for KHDRBS3 using alignment to 9 protein entries:     KHDR3_HUMAN (see all proteins):
    KHDRBS2    KHDRBS1    QKI

    KHDRBS3 for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KHDRBS3 (see all 3515)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs561344991,2
    C--136467740(+) CTTTTT/CGTTTC 1 -- us2k14Minor allele frequency- C:0.13WA NA EA 360
    rs801616481,2
    C,F--136467786(+) GAAGAG/ACAGCC 1 -- us2k11Minor allele frequency- A:0.09WA 118
    rs1114529901,2
    C,F--136467798(+) CAAGCC/AGCCTA 1 -- us2k13Minor allele frequency- A:0.25CSA 4
    rs737120311,2
    C,F--136467866(+) CTCAGC/TTGGCC 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1122493741,2
    F--136467881(+) CGGGGC/TGAAGC 1 -- us2k12Minor allele frequency- T:0.50CSA 4
    rs1381340611,2
    C--136467891(+) CACCAC/TGACCA 1 -- us2k10--------
    rs1427151001,2
    --136467999(+) GCAGCC/GGGAAA 1 -- us2k10--------
    rs1895252621,2
    --136468036(+) ATTTCC/TGATAG 1 -- us2k10--------
    rs37358651,2
    C--136468145(-) CTCAGG/CGTCCT 1 -- us2k16Minor allele frequency- C:0.13NA WA EA 364
    rs1818992921,2
    --136468181(+) GCTAGC/TGAGCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KHDRBS3 (136469700 - 136668965 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KHDRBS3 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2737645CNV Deletion23290073
    esv2389682CNV Deletion18987734
    esv2737644CNV Deletion23290073
    dgv1274e201CNV Deletion23290073
    esv2737639CNV Deletion23290073
    esv2737635CNV Deletion23290073
    esv2737643CNV Deletion23290073
    esv2421926CNV Deletion20811451
    esv2663629CNV Deletion23128226
    esv2737642CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KHDRBS3
    DNA2.0 Custom Variant and Variant Library Synthesis for KHDRBS3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610421    OMIM disorders: --

    Selected diseases for KHDRBS3 (see all 27):    
    About MalaCards
    transvestism    rocky mountain spotted fever    extratemporal epilepsy    spotted fever
    hypophosphatasia    childhood absence epilepsy    osteogenesis imperfecta    osteomalacia
    osteopetrosis    proteinuria    anorexia nervosa    osteosarcoma
    osteoporosis    medulloblastoma    liver disease    ulcerative colitis
    ataxia    rheumatoid arthritis    arthritis    hiv-1

    3 diseases from the University of Copenhagen DISEASES database for KHDRBS3:
    Extratemporal epilepsy     Transvestism     Hypophosphatasia

    KHDRBS3 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for KHDRBS3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteosarcoma 26.3 6 12037623 (2), 15478002 (1)
    liver diseases 23 2 9355672 (1), 9148865 (1)

    Genetic Association Database (GAD): KHDRBS3
    Human Genome Epidemiology (HuGE) Navigator: KHDRBS3 (1 document)

    Export disorders for KHDRBS3 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)
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    PubMed articles for KHDRBS3 gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with KHDRBS3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. T-STAR/ETOILE: a novel relative of SAM68 that interacts with an RNA- binding protein implicated in spermatogenesis. (PubMed id 10332027)1, 2, 3 Venables J.P.... Eperon I.C. (Hum. Mol. Genet. 1999)
    2. Salpalpha and Salpbeta, growth-arresting homologs of Sam68. (PubMed id 10564820)1, 2, 3 Lee J.-S. and Burr J.G. (Gene 1999)
    3. Characterization of Sam68-like mammalian proteins SLM-1 and SLM-2: SLM-1 is a Src substrate during mitosis. (PubMed id 10077576)1, 2, 9 Di Fruscio M.... Richard S. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    4. Sam68-like mammalian protein 2, identified by digital differential display as expressed by podocytes, is induced in proteinuria and involved in splice site selection of vascular endothelial growth factor. (PubMed id 15901763)1, 2, 9 Cohen C.D....Kretzler M. (J. Am. Soc. Nephrol. 2005)
    5. A role for KH domain proteins (Sam68-like mammalian proteins and quaking proteins) in the post-transcriptional regulation of HIV replication. (PubMed id 11741900)1, 2, 9 Reddy T.R.... Wong-Staal F. (J. Biol. Chem. 2002)
    6. Rapid and systematic analysis of the RNA recognition specificities of RNA-binding proteins. (PubMed id 19561594)1, 2 Ray D.... Hughes T.R. (Nat. Biotechnol. 2009)
    7. 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. (Genome Res. 2004)
    8. SIAH1 targets the alternative splicing factor T-STAR for degradation by the proteasome. (PubMed id 15163637)1, 2 Venables J.P.... Elliott D.J. (Hum. Mol. Genet. 2004)
    9. [Association of child absence epilepsy with T-STAR gene]. (PubMed id 12921630)1, 4 Chen Y.C....Wu X.R. (Zhonghua Yi Xue Za Zhi 2003)
    10. Down-regulation of T-STAR, a growth inhibitory protein, after SV40- mediated immortalization. (PubMed id 11714634)1, 2 Kool J.... Terleth C. (Cell Growth Differ. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 10656 HGNC: 18117 AceView: KHDRBS3 Ensembl:ENSG00000131773 euGenes: HUgn10656
    ECgene: KHDRBS3 H-InvDB: KHDRBS3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KHDRBS3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KHDRBS3 gene:
    Search GeneIP for patents involving KHDRBS3

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



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