Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

CABP4 Gene

protein-coding   GIFtS: 52
GCID: GC11P067222

Calcium Binding Protein 4

  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
Calcium Binding Protein 41 2
CSNB2B2 5
Calcium-Binding Protein 42
CaBP43

External Ids:    HGNC: 13861   Entrez Gene: 570102   Ensembl: ENSG000001755447   OMIM: 6089655   UniProtKB: P577963   

Export aliases for CABP4 gene to outside databases

Previous GC identifers: GC11M069718 GC11P068916 GC11P067469 GC11P066995 GC11P066998 GC11P066976 GC11P063553


(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 CABP4 Gene:
This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs.
Mutations in this gene are associated with congenital stationary night blindness type 2B. (provided by RefSeq,
Mar 2010)

GeneCards Summary for CABP4 Gene: 
CABP4 (calcium binding protein 4) is a protein-coding gene. Diseases associated with CABP4 include congenital stationary night blindness, type 2b, and congenital stationary night blindness. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CALML3.

UniProtKB/Swiss-Prot: CABP4_HUMAN, P57796
Function: Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in
photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the
calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity)




(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_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CABP4 gene promoter:
         E2F-4   E2F-3a   E2F-5   Bach2   Nkx2-5   CUTL1   E2F-2   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCABP4 promoter sequence
   Search SABiosciences Chromatin IP Primers for CABP4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CABP4


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

Entrez Gene cytogenetic band: 11q13.2   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13.2

CABP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CABP4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P067222:  view genomic region     (about GC identifiers)

Start:
67,219,877 bp from pter      End:
67,229,245 bp from pter
Size:
9,369 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: CABP4_HUMAN, P57796 (See protein sequence)
Recommended Name: Calcium-binding protein 4  
Size: 275 amino acids; 30433 Da
Subunit: Interacts with CACNA1F and CACNA1D (via IQ domain) in a calcium independent manner (By similarity).
Interacts (via N-terminus) with UNC119 (By similarity)
Subcellular location: Cytoplasm. Note=Found in rod spherules and cone pedicles of the presynapses from both types
of photoreceptors (By similarity)
Secondary accessions: Q8N4Z2 Q8WWY5
Alternative splicing: 2 isoforms:  P57796-1   P57796-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CABP4: NX_P57796

Explore proteomics data for CABP4 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated. Phosphorylation levels change with the light conditions and regulate the activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P57796

  • CABP4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CABP4 Protein Expression
    REFSEQ proteins: NP_660201.1  
    ENSEMBL proteins: 
     ENSP00000401555   ENSP00000324960   ENSP00000439145  

    Human Recombinant Protein Products for CABP4: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CABP4
    OriGene Protein Over-expression Lysate for CABP4
    OriGene MassSpec for CABP4 
    OriGene Custom Protein Services for CABP4
    GenScript Custom Purified and Recombinant Proteins Services for CABP4
    Novus Biologicals CABP4 Protein
    Novus Biologicals CABP4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CABP4 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS16960802
    GO:0005829cytosol IDA19338761
    GO:0043195terminal bouton TAS15452577
    GO:0045202synapse TAS16960802

    CABP4 for ontologies           About GeneDecksing



    CABP4 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CABP4
    GenScript Custom Superior Antibodies Services for CABP4
    Novus Biologicals CABP4 Antibodies
    Abcam antibodies for CABP4
    Cloud-Clone Corp. Antibodies for CABP4 
    Search ThermoFisher Antibodies for CABP4
    LSBio Antibodies in human, mouse, rat for CABP4 

    Assay Products for CABP4: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CABP4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CABP4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CABP4 
    Cloud-Clone Corp. CLIAs for CABP4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    4 InterPro protein domains:
     IPR018247 EF_Hand_1_Ca_BS
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom
     IPR015754 Ca_binding_pro

    Graphical View of Domain Structure for InterPro Entry P57796

    ProtoNet protein and cluster: P57796

    UniProtKB/Swiss-Prot: CABP4_HUMAN, P57796
    Similarity: Contains 4 EF-hand domains


    CABP4 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: CABP4_HUMAN, P57796
    Function: Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in
    photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the
    calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding TAS15452577
         
    CABP4 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cabp4):
     nervous system  vision/eye 

    CABP4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cabp4tm1Kpal for CABP4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CABP4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CABP4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CABP4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CABP4 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CABP4
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate CABP4:
    hsa-miR-511 hsa-miR-1178 hsa-miR-185 hsa-miR-1236 hsa-miR-4306
    SwitchGear 3'UTR luciferase reporter plasmidCABP4 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CABP4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CABP4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CABP4
    Sirion Biotech Customized adenovirus for overexpression of CABP4

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CABP4 (see all 6)
    OriGene ORF clones in mouse, rat for CABP4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CABP4 (NM_145200)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CABP4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CABP4
    Sirion Biotech Customized lentivirus for stable overexpression of CABP4 
                         Customized lentivirus expression plasmids for stable overexpression of CABP4 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CABP4
    Search LifeMap BioReagents cell lines for CABP4
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CABP4


    (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

    SuperPaths for CABP4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Visual Cycle in Retinal Rods
    Visual Cycle in Retinal Rods

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CABP4
        Visual Cycle in Retinal Rods


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CABP4

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for CABP4 (P577963 ENSP000003249604) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACNA1FO608403, ENSP000003654414I2D: score=2 STRING: ENSP00000365441
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction NAS10625670
    GO:0007601visual perception IMP16960802
    GO:0007602phototransduction IEA--
    GO:0008594photoreceptor cell morphogenesis IEA--
    GO:0046549retinal cone cell development IEA--

    CABP4 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 CABP4

    Search CenterWatch for drugs/clinical trials and news about CABP4

    (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 CABP4 gene: 
    NM_145200.3  

    Unigene Cluster for CABP4:

    Calcium binding protein 4
    Hs.143036  [show with all ESTs]
    Unigene Representative Sequence: NM_145200
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000538060 ENST00000438189(uc001oln.3) ENST00000542025 ENST00000545040(uc009yrw.1)
    ENST00000542233 ENST00000325656(uc001olo.3) ENST00000545777
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CABP4
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate CABP4:
    hsa-miR-511 hsa-miR-1178 hsa-miR-185 hsa-miR-1236 hsa-miR-4306
    SwitchGear 3'UTR luciferase reporter plasmidCABP4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CABP4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CABP4
    Clone
    Products:
         
    OriGene clones in human, mouse for CABP4 (see all 6)
    OriGene ORF clones in mouse, rat for CABP4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CABP4 (NM_145200)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CABP4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CABP4
    Sirion Biotech Customized lentivirus for stable overexpression of CABP4 
                         Customized lentivirus expression plasmids for stable overexpression of CABP4 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CABP4
    OriGene qSTAR qPCR primer pairs in human, mouse for CABP4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CABP4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CABP4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CABP4

    Additional mRNA sequence: 

    AY039217.1 BC033167.1 

    8 DOTS entries:

    DT.40298535  DT.91987576  DT.97837996  DT.120720087  DT.91928432  DT.120710910  DT.99981319  DT.40285777 

    19 AceView cDNA sequences:

    NM_145200 AY039217 CR615565 BC033167 AI569060 BX115851 BX954839 BU726309 
    BX283598 BM690981 BQ882349 BX510148 AI129455 BX422498 BI766814 BG330956 
    AL712439 H70963 H69788 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CABP4    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6
    SP1:                                                      
    SP2:                          -                           


    ECgene alternative splicing isoforms for CABP4

    (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

    CABP4 expression in normal human tissues (normalized intensities)      CABP4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGAATGGAG
    CABP4 Expression
    About this image


    CABP4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             retina   

    See CABP4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CABP4

    SOURCE GeneReport for Unigene cluster: Hs.143036

    UniProtKB/Swiss-Prot: CABP4_HUMAN, P57796
    Tissue specificity: Expressed in retina and in the inner hair cells (IHC) of the cochlea

        SABiosciences Custom PCR Arrays for CABP4
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CABP4
    OriGene qSTAR qPCR primer pairs in human, mouse for CABP4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CABP4
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CABP4
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CABP4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CABP4

    (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 chordates.

    Orthologs for CABP4 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cabp41 , 5 calcium binding protein 41, 5 80.62(n)1
    78.29(a)1
      19 (3.84 cM)5
    736601  NM_144532.21  NP_653115.11 
     41354255 
    chicken
    (Gallus gallus)
    Aves LOC1008578961 calcium-binding protein 4-like 65.79(n)
    61.57(a)
      100857896  XM_003641279.1  XP_003641327.1 
    lizard
    (Anolis carolinensis)
    Reptilia CABP46
    Uncharacterized protein
    58(a)
    1 ↔ 1
    1(93363954-93379594)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-56f16.11 si:ch73-56f16.1 56.26(n)
    52.49(a)
      797905  XM_001338325.2  XP_001338361.2 


    ENSEMBL Gene Tree for CABP4 (if available)
    TreeFam Gene Tree for CABP4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CABP4 gene
    CALML32  CABP52  CABP12  TNNC12  CALM32  CABP22  CALM12  CALML62  
    TNNC22  CALML52  CALML42  CABP72  CALN12  CALM22  
    11 SIMAP similar genes for CABP4 using alignment to 2 protein entries:     CABP4_HUMAN (see all proteins):
    CABP5    CABP1    CABP2    CALM1    CALM3    CALM2
    CALML3    CETN1    TNNC2    MYL6    CALML6

    CABP4 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) 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

    10/246 SNPs in CABP4 are shown (see all 246)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219178281,2,4
    C,FNight blindness, congenital stationary, 2B (CSNB2B)4 pathogenic167143278(+) AGGACC/TGCGAA 2 R C mis11Minor allele frequency- T:0.00NA 4540
    rs79368001,2
    C,F,H--67140479(+) TAAGTA/GAAGTA 1 -- us2k116Minor allele frequency- G:0.09NS EA NA 1802
    rs1431552641,2
    C--67140535(+) TGGGAA/GGATCA 1 -- us2k10--------
    rs1903887721,2
    --67140894(+) CAAGGC/TCCCTT 1 -- us2k10--------
    rs1812513051,2
    --67140958(+) TGGTTC/TCCATG 1 -- us2k10--------
    rs1864943031,2
    --67140987(+) GTAGGA/GAGTCT 1 -- us2k10--------
    rs1913363911,2
    --67141135(+) CCCACC/TGCGGC 1 -- us2k10--------
    rs1827576741,2
    C--67141202(+) TGCTAA/TAGAGA 1 -- us2k10--------
    rs1152045871,2
    C,F--67141317(+) TTCCCC/TGCTGG 1 -- us2k12Minor allele frequency- T:0.05WA EA 238
    rs16385611,2
    C,F,A,H--67141326(+) GGCAGC/AGGGGA 1 -- us2k16Minor allele frequency- A:0.15NS EA WA 418

    HapMap Linkage Disequilibrium report for CABP4 (67219877 - 67229245 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CABP4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv468604CNV Loss19166990
    nsv527056CNV Loss19592680
    nsv524096CNV Loss19592680
    dgv1194n71CNV Loss21882294
    dgv1193n71CNV Loss21882294
    nsv897797CNV Loss21882294
    nsv521723CNV Loss19592680
    nsv897801CNV Loss21882294
    nsv528976CNV Loss19592680
    nsv897804CNV Gain21882294


    Human Gene Mutation Database (HGMD): CABP4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CABP4
    DNA2.0 Custom Variant and Variant Library Synthesis for CABP4

    (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: 608965   
    OMIM disorders: 610427  
    UniProtKB/Swiss-Prot: CABP4_HUMAN, P57796
  • Night blindness, congenital stationary, 2B (CSNB2B) [MIM:610427]: A non-progressive retinal disorder
    characterized by impaired night vision, often associated with nystagmus and myopia. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 8 diseases for CABP4:    About MalaCards
    congenital stationary night blindness, type 2b    congenital stationary night blindness    congenital nystagmus    night blindness
    blindness    retinal disease    retinitis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for CABP4:
    Night blindness     Congenital nystagmus

    CABP4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CABP4
    Human Genome Epidemiology (HuGE) Navigator: CABP4 (2 documents)

    Export disorders for CABP4 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 CABP4 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with CABP4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. (PubMed id 16960802)1, 2, 3 Zeitz C.... Berger W. (2006)
    2. Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin. (PubMed id 10625670)1, 2, 3 Haeseleer F....Palczewski K. (2000)
    3. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (2010)
    4. Membrane targeting of the EF-hand containing calcium-sensing proteins CaBP7 and CaBP8. (PubMed id 19338761)1, 2 McCue H.V.... Haynes L.P. (2009)
    5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)1, 2 Taylor T.D....Sakaki Y. (2006)
    6. 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)
    7. Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function. (PubMed id 15452577)1, 2 Haeseleer F.... Palczewski K. (2004)
    8. A null mutation in CABP4 causes Leber's congenital am aurosis-like phenotype. (PubMed id 20157620)1, 9 Aldahmesh M.A....Alkuraya F.S. (2010)
    9. Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4). (PubMed id 22936811)1 Shaltiel L....Wahl-Schott C.A. (2012)
    10. Genotyping microarray for CSNB-associated genes. (PubMed id 19578023)4 Zeitz C....Berger W. (2009)

    (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: 57010 HGNC: 1386 AceView: CABP4 Ensembl:ENSG00000175544 euGenes: HUgn57010
    ECgene: CABP4 H-InvDB: CABP4

    (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 CABP4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CABP4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CABP4 gene:
    Search GeneIP for patents involving CABP4

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CABP4  
     OriGene qPCR primer pairs and template standards for CABP4   OriGene Protein Over-expression Lysate for CABP4  
     OriGene MassSpec something-or-other for CABP4   OriGene clones in human, mouse for CABP4  
     OriGene qSTAR qPCR primer pairs in human, mouse for CABP4   OriGene Purified Protein for CABP4  
     OriGene ORF clones in mouse, rat for CABP4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CABP4   OriGene Custom Protein Services for CABP4  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CABP4
     QIAGEN SeqTarget long-range PCR primers for resequencing CABP4
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CABP4
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CABP4
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CABP4
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CABP4
     GenScript Custom Purified and Recombinant Proteins Services for CABP4 GenScript cDNA clones with any tag delivered in your preferred vector for CABP4
     GenScript Custom Assay Services for CABP4 GenScript Custom Superior Antibodies Services for CABP4
     GenScript Custom overexpressing Cell Line Services for CABP4 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in CABP4 promoter
     Search Chromatin IP Primers for CABP4
     RT2 qPCR Primer Assay in human, mouse, rat CABP4
     GNC Network for CABP4
     SABiosciences PCR Arrays including human, mouse, rat CABP4
     Search Tocris compounds for CABP4
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     CABP4 antibodies
     CABP4 proteins
     CABP4 lysates
     Antibodies for CABP4
     See all of Abcam's Antibodies, Kits and Proteins for CABP4
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for CABP4
     Antibodies for CABP4
     ELISAs for CABP4
     CLIAs for CABP4
     Search LifeMap BioReagents cell lines for CABP4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CABP4
     SwitchGear 3'UTR luciferase reporter plasmids for CABP4
     SwitchGear Promoter luciferase reporter plasmids for CABP4
     Search ThermoFisher Antibodies for CABP4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CABP4
     inGenious Targeting Laboratory - Custom generated mouse model solutions for CABP4
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CABP4
    Customized:
     lentivirus for stable overexpression of CABP4
     lentivirus expression plasmids for stable overexpression of CABP4
     adenovirus for overexpression of CABP4
     LSBio Antibodies in human, mouse, rat for CABP4
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CABP4 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4