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

Gene ID: 57010, updated on 9-Jun-2025
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
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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 AHR interacting HSP90 co-chaperone 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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
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 metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within photoreceptor cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within phototransduction IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within retinal bipolar neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within 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
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
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 presynapse IEA
Inferred from Electronic Annotation
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 
located_in synapse TAS
Traceable Author Statement
more info
PubMed 
located_in terminal bouton TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
calcium-binding protein 4

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