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    CABP4 calcium binding protein 4 [ Homo sapiens (human) ]

    Gene ID: 57010, updated on 27-Nov-2024

    Summary

    Official Symbol
    CABP4provided by HGNC
    Official Full Name
    calcium binding protein 4provided by HGNC
    Primary source
    HGNC:HGNC:1386
    See related
    Ensembl:ENSG00000175544 MIM:608965; AllianceGenome:HGNC:1386
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRSD; CSNB2B
    Summary
    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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
    Expression
    Biased expression in spleen (RPKM 2.4), prostate (RPKM 0.5) and 12 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CABP4 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67452403..67461752)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67446523..67455877)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67219874..67229223)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67195675-67196442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67196443-67197210 Neighboring gene ribosomal protein S6 kinase B2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67201247-67202008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67203533-67204294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67204572-67205104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67205105-67205637 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67205638-67206170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67206171-67206702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5098 Neighboring gene protein tyrosine phosphatase receptor type C associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5099 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67209163-67210002 Neighboring gene coronin 1B Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:67210843-67211682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5101 Neighboring gene G protein-coupled receptor 152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5103 Neighboring gene transmembrane protein 134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:67236334-67236958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5104 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:67244852-67245402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67253051-67254024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5108 Neighboring gene aryl hydrocarbon receptor interacting protein Neighboring gene microRNA 6752 Neighboring gene phosphatidylinositol transfer protein membrane associated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67270543-67271292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67271293-67272042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3642

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables calcium ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in photoreceptor cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phototransduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal bipolar neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal cone cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in synapse TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in terminal bouton TAS
    Traceable Author Statement
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021211.1 RefSeqGene

      Range
      5008..11406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001300895.3NP_001287824.1  calcium-binding protein 4 isoform b

      See identical proteins and their annotated locations for NP_001287824.1

      Status: REVIEWED

      Source sequence(s)
      AP003419
      Consensus CDS
      CCDS73333.1
      Conserved Domains (1) summary
      PTZ00184
      Location:20169
      PTZ00184; calmodulin; Provisional
    2. NM_001300896.3NP_001287825.1  calcium-binding protein 4 isoform b

      See identical proteins and their annotated locations for NP_001287825.1

      Status: REVIEWED

      Source sequence(s)
      AP003419
      Consensus CDS
      CCDS73333.1
      Related
      ENSP00000401555.2, ENST00000438189.6
      Conserved Domains (1) summary
      PTZ00184
      Location:20169
      PTZ00184; calmodulin; Provisional
    3. NM_001379183.1NP_001366112.1  calcium-binding protein 4 isoform b

      Status: REVIEWED

      Source sequence(s)
      AP003419
      Consensus CDS
      CCDS73333.1
      Conserved Domains (1) summary
      PTZ00184
      Location:20169
      PTZ00184; calmodulin; Provisional
    4. NM_145200.5NP_660201.1  calcium-binding protein 4 isoform a

      See identical proteins and their annotated locations for NP_660201.1

      Status: REVIEWED

      Source sequence(s)
      AP003419
      Consensus CDS
      CCDS8166.1
      UniProtKB/Swiss-Prot
      P57796, Q8N4Z2, Q8WWY5
      Related
      ENSP00000324960.5, ENST00000325656.7
      Conserved Domains (2) summary
      cl25352
      Location:125274
      EFh_PEF; The penta-EF hand (PEF) family
      cl27975
      Location:12101
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

    RNA

    1. NR_166529.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP003419

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      67452403..67461752
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448615.2XP_024304383.1  calcium-binding protein 4 isoform X1

      UniProtKB/Swiss-Prot
      P57796, Q8N4Z2, Q8WWY5
      Conserved Domains (2) summary
      cl25352
      Location:125274
      EFh_PEF; The penta-EF hand (PEF) family
      cl27975
      Location:12101
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
    2. XM_005274114.4XP_005274171.2  calcium-binding protein 4 isoform X2

      Conserved Domains (2) summary
      PHA03415
      Location:81190
      PHA03415; putative internal virion protein; Provisional
      cd00051
      Location:153193
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      67446523..67455877
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369443.1XP_054225418.1  calcium-binding protein 4 isoform X2