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

LARP7 Gene

protein-coding   GIFtS: 51
GCID: GC04P113559

La Ribonucleoprotein Domain Family, Member 7

Microbiology & Infectious Diseases Congress
  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
La Ribonucleoprotein Domain Family, Member 71 2
P-TEFb-Interaction Protein For 7SK Stability1 2 3
PIP7S2 3 5
ALAZS2
La-Related Protein 72
La Ribonucleoprotein Domain Family Member 73

External Ids:    HGNC: 249121   Entrez Gene: 515742   Ensembl: ENSG000001747207   OMIM: 6120265   UniProtKB: Q4G0J33   

Export aliases for LARP7 gene to outside databases

Previous GC identifers: GC04P113777 GC04P109286


(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 LARP7 Gene:
This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex
inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA
polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome
3. Alternative splicing results in multiple transcript variants. (provided by RefSeq, May 2012)

GeneCards Summary for LARP7 Gene: 
LARP7 (La ribonucleoprotein domain family, member 7) is a protein-coding gene. Diseases associated with LARP7 include microcephalic primordial dwarfism, alazami type, and skeletal dysplasias. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is LARP6.

UniProtKB/Swiss-Prot: LARP7_HUMAN, Q4G0J3
Function: Negative transcriptional regulator of polymerase II genes, acting by means of the 7SK RNP system. Within
the 7SK RNP complex, the positive transcription elongation factor b (P-TEFb) is sequestered in an inactive form,
preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation




(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_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LARP7 gene promoter:
         E2F-4   E2F-3a   E2F   E2F-1   FOXO4   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): LARP7 promoter sequence
   Search SABiosciences Chromatin IP Primers for LARP7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LARP7


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

Entrez Gene cytogenetic band: 4q25   Ensembl cytogenetic band:  4q25   HGNC cytogenetic band: 4q25

LARP7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LARP7 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P113559:  view genomic region     (about GC identifiers)

Start:
113,558,120 bp from pter      End:
113,578,748 bp from pter
Size:
20,629 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: LARP7_HUMAN, Q4G0J3 (See protein sequence)
Recommended Name: La-related protein 7  
Size: 582 amino acids; 66899 Da
Subunit: Integral part of the 7SK RNP complex. Specifically binds to the highly conserved 3'-terminal U-rich
stretch of 7SK RNA. On stimulation, remains associated with 7SK RNA, whereas P-TEFb is released from the complex
Subcellular location: Nucleus, nucleoplasm
Sequence caution: Sequence=AAH66945.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2ZHN6 Q3B7A9 Q9P1S7 Q9Y3Z8
Alternative splicing: 3 isoforms:  Q4G0J3-1   Q4G0J3-2   Q4G0J3-3   

Explore the universe of human proteins at neXtProt for LARP7: NX_Q4G0J3

Explore proteomics data for LARP7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q4G0J3

  • LARP7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LARP7 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001253968.1  NP_056269.1  NP_057732.2  

    ENSEMBL proteins: 
     ENSP00000344950   ENSP00000426709   ENSP00000422626   ENSP00000422451   ENSP00000426646  
     ENSP00000422013   ENSP00000421541   ENSP00000424116   ENSP00000421963   ENSP00000426376  
     ENSP00000314311  

    Human Recombinant Protein Products for LARP7: 
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    Novus Biologicals LARP7 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LARP7 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm IEA--
    GO:0005737cytoplasm IDA--
    GO:0030529ribonucleoprotein complex IEA--

    LARP7 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    LARP: La ribonucleoprotein domain containing
    RBM: RNA binding motif (RRM) containing

    5/6 InterPro protein domains (see all 6):
     IPR006630 Lupus_La_RNA-bd
     IPR011991 WHTH_DNA-bd_dom
     IPR002344 Lupus_La
     IPR014886 RRM_3
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q4G0J3

    ProtoNet protein and cluster: Q4G0J3

    1 Blocks protein domain: IPB002344 Lupus La protein signature

    UniProtKB/Swiss-Prot: LARP7_HUMAN, Q4G0J3
    Similarity: Contains 1 HTH La-type RNA-binding domain
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    LARP7 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LARP7_HUMAN, Q4G0J3
    Function: Negative transcriptional regulator of polymerase II genes, acting by means of the 7SK RNP system. Within
    the 7SK RNP complex, the positive transcription elongation factor b (P-TEFb) is sequestered in an inactive form,
    preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI18483487
         
    LARP7 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Larp7):
     cellular  embryogenesis  growth/size  mortality/aging  nervous system 
     reproductive system 

    LARP7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Larp7tm1Ymat for LARP7

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LARP7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LARP7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LARP7 
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate LARP7:
    hsa-miR-3065-5p
    SwitchGear 3'UTR luciferase reporter plasmidLARP7 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LARP7


    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LARP7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/13 Interacting proteins for LARP7 (Q4G0J32, 3 ENSP000003143114) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRPF40AO754002, 3MINT-8267468 I2D: score=2 
    CDK9P507502, 3, ENSP000003623614MINT-6629492 MINT-6629521 MINT-6629505 MINT-6629599 MINT-6629464 MINT-6629479 MINT-6629534 I2D: score=2 STRING: ENSP00000362361
    HEXIM1O949922, 3, ENSP000003287734MINT-6629492 MINT-6629521 MINT-6629505 MINT-6629464 MINT-6629479 MINT-6629588 MINT-6629534 I2D: score=1 STRING: ENSP00000328773
    CCNT1O605632, ENSP000002619004MINT-6629492 MINT-6629521 MINT-6629505 MINT-6629464 MINT-6629479 MINT-6629534 STRING: ENSP00000261900
    MEPCEQ7L2J03, ENSP000003085464I2D: score=1 STRING: ENSP00000308546
    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:0006396RNA processing IEA--

    LARP7 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 LARP7

    Search CenterWatch for drugs/clinical trials and news about LARP7

    (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 LARP7 gene (3 alternative transcripts): 
    NM_001267039.1  NM_015454.2  NM_016648.3  

    Unigene Cluster for LARP7:

    La ribonucleoprotein domain family, member 7
    Hs.713663  [show with all ESTs]
    Unigene Representative Sequence: NM_001267039
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344442(uc003iay.3 uc003iba.3) ENST00000512589 ENST00000509061(uc003iaz.3)
    ENST00000509622 ENST00000508577 ENST00000513553 ENST00000504079 ENST00000505034
    ENST00000505216 ENST00000507443 ENST00000503316 ENST00000511529 ENST00000512361
    ENST00000503898 ENST00000324052(uc003ibb.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate LARP7:
    hsa-miR-3065-5p
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF068284.1 AK000089.1 AK000274.1 AK225900.1 AL049996.1 BC006981.1 BC066945.1 BC107709.1 
    BX647100.1 EU667388.1 NR_049768.1 

    24/27 DOTS entries (see all 27):

    DT.455967  DT.100826219  DT.95070005  DT.102833758  DT.102833759  DT.100826216  DT.95074509  DT.100826217 
    DT.121220526  DT.121220517  DT.40287376  DT.99998927  DT.121220527  DT.91755773  DT.100826221  DT.101959098 
    DT.121220446  DT.424894  DT.99976930  DT.121220493  DT.121220512  DT.86855559  DT.92001063  DT.97771568 

    24/246 AceView cDNA sequences (see all 246):

    AV689069 AW339069 AI670112 CB157479 N64387 AW589864 BX956436 AI276533 
    BF431557 BG431297 BM990303 AA047503 BM263404 AA946892 CA314598 AI655849 
    AI811605 CA420422 BM311762 BQ774592 BG113704 AW572380 BM311174 AV692449 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for LARP7 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                                                                          -                                             
    SP2:                          -                                                                                             
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for LARP7

    (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

    LARP7 expression in normal human tissues (normalized intensities)      LARP7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACACAAGCA
    LARP7 Expression
    About this image


    LARP7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical cord blood-derived endothelial progenitor cells
     
     Endothelium (Cardiovascular System)
             Umbilical cord blood-derived endothelial progenitor cells
     
     Blood (Hematopoietic System)
             bone marrow cd34+   
     
     Skeletal Muscle (Muscoskeletal System)
             quadriceps   
     
     Ovary (Reproductive System)

    See LARP7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LARP7

    SOURCE GeneReport for Unigene cluster: Hs.713663
        SABiosciences Expression via Pathway-Focused PCR Array including LARP7: 
              Polycomb & Trithorax Complexes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LARP7

    (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 and fungi.

    Orthologs for LARP7 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Larp71 , 5 La ribonucleoprotein domain family, member 71, 5 81.54(n)1
    82.89(a)1
      3 (56.54 cM)5
    280361  NM_138593.21  NP_613059.21 
     1275369545 
    chicken
    (Gallus gallus)
    Aves LARP71 La ribonucleoprotein domain family, member 7 74.35(n)
    75.04(a)
      422690  XM_420643.3  XP_420643.3 
    lizard
    (Anolis carolinensis)
    Reptilia LARP76
    La ribonucleoprotein domain family, member 7
    68(a)
    1 ↔ 1
    5(142951357-142979538)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.130442 Xenopus laevis transcribed sequence with weak similarity more 78.33(n)    BJ093043.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa10g042 wufa10g04 71.02(n)   334956  BC049455.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG425691 CG42569 44.02(n)
    33.86(a)
      44900  NM_080056.5  NP_524795.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LHP16
    RNA binding protein required for maturation of tRN...
    26(a)
    1 → many
    IV(363952-364779)


    ENSEMBL Gene Tree for LARP7 (if available)
    TreeFam Gene Tree for LARP7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LARP7 gene
    LARP62  
    4 SIMAP similar genes for LARP7 using alignment to 9 protein entries:     LARP7_HUMAN (see all proteins):
    LARP1B    LARP1    LARP4    SSB

    LARP7 for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for LARP7 (see all 6)
    PGOHUM00000248749 PGOHUM00000235095 PGOHUM00000244394 PGOHUM00000250309 PGOHUM00000243832


    (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

    10/491 SNPs in LARP7 are shown (see all 491)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1828388711,2
    --113351152(+) CTCTAC/TTAAAA 3 -- us2k10--------
    rs1883617161,2
    --113351277(+) CGCCAA/CTGCAC 3 -- us2k10--------
    rs1120561631,2
    F--113351325(+) AAAAAG/AAAAAA 3 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs1903674711,2
    --113351370(+) CCTCCA/GGCGTA 3 -- us2k10--------
    rs1822402151,2
    --113351372(+) TCCGGC/TGTACA 3 -- us2k10--------
    rs1869490961,2
    --113351423(+) AGATCA/GAGAAA 3 -- us2k10--------
    rs1494724751,2
    --113351507(+) AATTAC/TTAATA 3 -- us2k10--------
    rs1925140471,2
    --113351600(+) CTGTTA/GGCTTT 3 -- us2k10--------
    rs68453801,2
    C,F,A,H--113351689(+) CGCTGT/CGGCCT 4 -- us2k16Minor allele frequency- C:0.25NA CSA WA EA 363
    rs1857023091,2
    --113351806(+) TATAAC/TATATA 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for LARP7 (113558120 - 113578748 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for LARP7:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv525715CNV Loss19592680


    Human Gene Mutation Database (HGMD): LARP7
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LARP7
    DNA2.0 Custom Variant and Variant Library Synthesis for LARP7

    (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: 612026    OMIM disorders: --

    UniProtKB/Swiss-Prot: LARP7_HUMAN, Q4G0J3
  • Alazami syndrome (ALAZS) [MIM:615071]: A syndromic form of primordial dwarfism, a condition characterized
    by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS
    patients manifest severe intellectual disability and distinct facial features including malar hypoplasia,
    deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent
    skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank
    dysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for LARP7:    About MalaCards
    microcephalic primordial dwarfism, alazami type    skeletal dysplasias    alcohol dependence    dwarfism
    alcoholism    intellectual disability    cervical cancer    cervicitis
    gastric cancer


    LARP7 for disorders           About GeneDecksing

    Genetic Association Database (GAD): LARP7
    Human Genome Epidemiology (HuGE) Navigator: LARP7 (1 document)

    Export disorders for LARP7 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 LARP7 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with LARP7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss of function mutation in LARP7, chaperone of 7SK n cRNA, causes a syndrome of facial dysmorphism, intellectual disability, and prim ordial dwarfism. (PubMed id 22865833)1, 2, 3 Alazami A.M....Alkuraya F.S. (2012)
    2. A La-related protein modulates 7SK snRNP integrity to suppress P- TEFb-dependent transcriptional elongation and tumorigenesis. (PubMed id 18249148)1, 2, 3 He N.... Zhou Q. (2008)
    3. LARP7 is a potential tumor suppressor gene in gastric cancer. (PubMed id 22488152)1, 3 Cheng Y....Mori Y. (2012)
    4. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (2010)
    5. LARP7 is a stable component of the 7SK snRNP while P-TEFb, HEXIM1 and hnRNP A1 are reversibly associated. (PubMed id 18281698)1, 3 Krueger B.J....Price D.H. (2008)
    6. Gene expression in early stage cervical cancer. (PubMed id 18191186)1, 3 Biewenga P....Baas F. (2008)
    7. The La-related protein LARP7 is a component of the 7SK ribonucleoprotein and affects transcription of cellular and viral polymerase II genes. (PubMed id 18483487)1, 2 Markert A.... Fischer U. (2008)
    8. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    9. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)
    10. Mediator MED23 regulates basal transcription in vivo v ia an interaction with P-TEFb. (PubMed id 23340209)1 Wang W....Wang G. (2013)

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

      Query String
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    OMIM
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      (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: 51574 HGNC: 24912 AceView: HDCMA18P Ensembl:ENSG00000174720 euGenes: HUgn51574
    ECgene: LARP7 H-InvDB: LARP7

    (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 LARP7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LARP7 gene:
    Search GeneIP for patents involving LARP7

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



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