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KIAA1211L Gene

protein-coding   GIFtS: 36
GCID: GC02M099411

KIAA1211-Like

(Previous name: chromosome 2 open reading frame 55)
(Previous symbol: C2orf55)
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(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
KIAA1211-like1 2
C2orf551 2 3
Chromosome 2 Open Reading Frame 551
Uncharacterized Protein C2orf552
Uncharacterized Protein KIAA1211-Like2

External Ids:    HGNC: 334541   Entrez Gene: 3439902   Ensembl: ENSG000001968727   UniProtKB: Q6NV743   

Export aliases for KIAA1211L gene to outside databases


(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 KIAA1211L Gene:
KIAA1211L (KIAA1211-like) is a protein-coding gene. An important paralog of this gene is KIAA1211.


(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 at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for KIAA1211L
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA1211L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA1211L


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

Entrez Gene cytogenetic band: 2q11.2   Ensembl cytogenetic band:  2q11.2   HGNC cytogenetic band: 2q11.2

KIAA1211L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1211L gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M099411:  view genomic region     (about GC identifiers)

Start:
99,410,309 bp from pter      End:
99,552,722 bp from pter
Size:
142,414 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: K121L_HUMAN, Q6NV74 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA1211-like  
Size: 962 amino acids; 102157 Da
Sequence caution: Sequence=AAH68277.1; Type=Frameshift; Positions=503, 725;

Explore the universe of human proteins at neXtProt for KIAA1211L: NX_Q6NV74

Explore proteomics data for KIAA1211L at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIAA1211L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_997245.2  
    ENSEMBL proteins: 
     ENSP00000380996   ENSP00000396657   ENSP00000387902   ENSP00000390799   ENSP00000403428  

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    antibodies-online peptides for KIAA1211L

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    antibodies-online antibodies for KIAA1211L (15 products) 

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    antibodies-online kits for KIAA1211L (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR028030 DUF4592
     IPR026713 KIAA1211L

    Graphical View of Domain Structure for InterPro Entry Q6NV74

    ProtoNet protein and cluster: Q6NV74


    Find genes that share domains with KIAA1211L           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KIAA1211L

    miRNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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      --

    (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 KIAA1211L
    Interactions:

        Search GeneGlobe Interaction Network for KIAA1211L

    (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 KIAA1211L (K121L)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KIAA1211L gene: 
    NM_207362.2  

    Unigene Cluster for KIAA1211L:

    KIAA1211-like
    Hs.469398  [show with all ESTs]
    Unigene Representative Sequence: NM_207362
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397899(uc002szf.1) ENST00000464413 ENST00000462314 ENST00000423771
    ENST00000428096 ENST00000415261 ENST00000420294
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat KIAA1211L

    Additional mRNA sequence: BC068277.1 

    4 DOTS entries:

    DT.97837473  DT.95161063  DT.75135887  DT.91957212 

    Selected AceView cDNA sequences (see all 69):

    CA418525 AI359304 AW001881 BI758336 CK903802 AI273392 AI369917 AW271488 
    BU685924 BM976375 BM544372 AA644006 AI570469 BM967172 AI343437 BX101894 
    BI964182 AI910820 AI343492 AI392895 BX403364 BI915924 BC068277 BI754038 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1211L    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10
    SP1:                          -     -     -                                             
    SP2:                          -           -                                             
    SP3:                                                                                    
    SP4:                          -     -     -                 -                           
    SP5:                                                                                    


    ECgene alternative splicing isoforms for KIAA1211L

    (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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    KIAA1211L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIAA1211L Expression
    About this image


    KIAA1211L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Cartilage (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
    KIAA1211L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA1211L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.469398
        Custom PCR Arrays for KIAA1211L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1211L

    (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 chordates.

    Orthologs for KIAA1211L gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2010300C02Rik1 RIKEN cDNA 2010300C02 gene 71.82(n)
    66.74(a)
      72097  NM_028096.1  NP_082372.1 
    chicken
    (Gallus gallus)
    Aves KIAA1211L6
    KIAA1211-like
    34(a)
    1 ↔ 1
    1(131760125-131800278)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    59(a)
    21(a)
    1 ↔ many
    1 ↔ many
    3(108991704-108999555)
    3(109002059-109032561)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-149l1.26
    si:ch211-121j5.46
    si:ch211-121j5.4
    25(a)
    17(a)
    1 ↔ many
    1 ↔ many
    1(50188711-50205475) ENSDARG00000079501
    9(7282412-7299393) ENSDARG00000097160


    ENSEMBL Gene Tree for KIAA1211L (if available)
    TreeFam Gene Tree for KIAA1211L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA1211L gene
    KIAA12112  

    Find genes that share paralogs with KIAA1211L           About GenesLikeMe



    (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 KIAA1211L (see all 2553)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs728277361,2
    C,F--99409829(+) CTACAT/CGTACT 1 -- int13Minor allele frequency- C:0.05WA NA EA 358
    rs1404672041,2
    --99410047(+) AAGAAA/TGATAA 1 -- int10--------
    rs1458815361,2
    C--99410076(+) ATATTC/TAGTAT 1 -- int10--------
    rs767557431,2
    --99410112(+) TAAAAC/GCCTAC 1 -- int10--------
    rs1414470001,2
    --99410123(+) ATTACC/TGTCTG 1 -- int10--------
    rs1824881951,2
    --99410124(+) TTACCA/GTCTGT 1 -- int10--------
    rs2004225101,2
    C--99410150(+) CTGGGA/GAAAAA 1 -- int10--------
    rs3681986321,2
    C--99410458(+) TGGCT-/GGGTCTT 2 -- ut310--------
    rs2009531691,2
    C--99410460(+) GGCTGG/TCTTTA 1 -- ut310--------
    rs1863794421,2
    --99410643(+) TCTTCC/TGGCCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KIAA1211L (99410309 - 99552722 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KIAA1211L: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA1211L
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1211L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (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 KIAA1211L gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KIAA1211L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. (PubMed id 19416921)1 Scott L.J....Boehnke M. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 343990 HGNC: 33454 AceView: MGC42367 Ensembl:ENSG00000196872 euGenes: HUgn343990
    ECgene: KIAA1211L H-InvDB: KIAA1211L

    (According to HUGE)
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    HUGE: KIAA1211L

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KIAA1211L 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 KIAA1211L gene:
    Search GeneIP for patents involving KIAA1211L

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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