Aliases for CABP7 Gene

Aliases for CABP7 Gene

  • Calcium Binding Protein 7 2 3 5
  • Calcium-Binding Protein 7 3 4
  • Calneuron II 3 4
  • CALN2 3 4
  • Calneuron 2 3
  • Calneuron-2 4
  • MGC57793 2
  • CABP7 5
  • CaBP7 4

External Ids for CABP7 Gene

Previous GeneCards Identifiers for CABP7 Gene

  • GC22P028440
  • GC22P030116
  • GC22P013055

Summaries for CABP7 Gene

GeneCards Summary for CABP7 Gene

CABP7 (Calcium Binding Protein 7) is a Protein Coding gene. Diseases associated with CABP7 include Vohwinkel Syndrome. Among its related pathways are Visual Cycle in Retinal Rods. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CALN1.

UniProtKB/Swiss-Prot Summary for CABP7 Gene

  • Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity.

Additional gene information for CABP7 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CABP7 Gene

Genomics for CABP7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CABP7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J029719 Promoter/Enhancer 1.1 EPDnew Ensembl dbSUPER 600.7 +0.5 498 1.4 EZH2 SCRT2 ZBED1 ZNF335 CABP7 ENSG00000232396 ENSG00000239446 THOC5 MTMR3 piR-57460-448 ZMAT5
GH22J029718 Enhancer 0.6 Ensembl dbSUPER 600.7 -1.6 -1591 0.8 ZIC2 GLIS1 SMARCA4 EZH2 CABP7 ENSG00000232396 ENSG00000239446 HORMAD2-AS1 MTMR3 GAS2L1 piR-39027 NF2
GH22J029720 Enhancer 0.5 Ensembl dbSUPER 600.7 +2.0 1998 0.8 EZH2 SCRT2 CABP7 piR-57460-448 ZMAT5
GH22J029795 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 5 +79.0 78981 7.1 CEBPG SP1 GATAD2A PRDM10 REST TFE3 LEF1 IKZF1 RCOR2 JUND HORMAD2-AS1 ASCC2 ZMAT5 CABP7 UQCR10 ENSG00000237015 piR-57133-389 lnc-ZMAT5-3
GH22J029363 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.4 -351.4 -351402 11.2 PRDM10 IKZF1 JUND ZIC2 NR2C1 IKZF2 HDAC1 SOX6 NRF1 DPF2 AP1B1 RASL10A EWSR1 GAS2L1 SF3A1 SNORD125 TBC1D10A ENSG00000272858 THOC5 NIPSNAP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CABP7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CABP7

Top Transcription factor binding sites by QIAGEN in the CABP7 gene promoter:
  • c-Myc
  • GATA-3
  • Max1
  • MRF-2
  • MyoD
  • NF-1
  • NRSF form 1
  • NRSF form 2
  • USF-1
  • USF1

Genomic Locations for CABP7 Gene

Genomic Locations for CABP7 Gene
chr22:29,720,003-29,731,833
(GRCh38/hg38)
Size:
11,831 bases
Orientation:
Plus strand
chr22:30,116,073-30,127,828
(GRCh37/hg19)
Size:
11,756 bases
Orientation:
Plus strand

Genomic View for CABP7 Gene

Genes around CABP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CABP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CABP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CABP7 Gene

Proteins for CABP7 Gene

  • Protein details for CABP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86V35-CABP7_HUMAN
    Recommended name:
    Calcium-binding protein 7
    Protein Accession:
    Q86V35

    Protein attributes for CABP7 Gene

    Size:
    215 amino acids
    Molecular mass:
    24453 Da
    Quaternary structure:
    • Interacts with PI4KB. This binding competes with FREQ/NCS1 binding in a calcium-dependent manner (By similarity).

    Three dimensional structures from OCA and Proteopedia for CABP7 Gene

neXtProt entry for CABP7 Gene

Post-translational modifications for CABP7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CABP7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CABP7 Gene

Domains & Families for CABP7 Gene

Gene Families for CABP7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CABP7 Gene

Suggested Antigen Peptide Sequences for CABP7 Gene

GenScript: Design optimal peptide antigens:
  • Calneuron-2 (CABP7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86V35

UniProtKB/Swiss-Prot:

CABP7_HUMAN :
  • The C-terminal transmembrane domain (TMD) is necessary and sufficient for membrane targeting.
Domain:
  • The C-terminal transmembrane domain (TMD) is necessary and sufficient for membrane targeting.
genes like me logo Genes that share domains with CABP7: view

Function for CABP7 Gene

Molecular function for CABP7 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity.

Phenotypes From GWAS Catalog for CABP7 Gene

Gene Ontology (GO) - Molecular Function for CABP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CABP7: view
genes like me logo Genes that share phenotypes with CABP7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CABP7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CABP7 Gene

Localization for CABP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CABP7 Gene

Golgi apparatus, trans-Golgi network membrane. Single-pass type IV membrane protein. Cytoplasm, perinuclear region. Cell membrane. Single-pass type IV membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CABP7 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CABP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CABP7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CABP7 Gene

Pathways & Interactions for CABP7 Gene

PathCards logo

SuperPathways for CABP7 Gene

SuperPathway Contained pathways
1 Visual Cycle in Retinal Rods
-
genes like me logo Genes that share pathways with CABP7: view

Pathways by source for CABP7 Gene

1 Qiagen pathway for CABP7 Gene
  • Visual Cycle in Retinal Rods

Gene Ontology (GO) - Biological Process for CABP7 Gene

None

No data available for SIGNOR curated interactions for CABP7 Gene

Drugs & Compounds for CABP7 Gene

No Compound Related Data Available

Transcripts for CABP7 Gene

mRNA/cDNA for CABP7 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CABP7

Alternative Splicing Database (ASD) splice patterns (SP) for CABP7 Gene

No ASD Table

Relevant External Links for CABP7 Gene

GeneLoc Exon Structure for
CABP7

Expression for CABP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CABP7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CABP7 Gene

This gene is overexpressed in Brain - Hippocampus (x18.6) and Brain - Cerebellum (x5.4).

Protein differential expression in normal tissues from HIPED for CABP7 Gene

This gene is overexpressed in Testis (24.8), Gallbladder (8.3), Fetal gut (7.4), and Fetal ovary (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CABP7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CABP7

SOURCE GeneReport for Unigene cluster for CABP7 Gene:

Hs.643608

Evidence on tissue expression from TISSUES for CABP7 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with CABP7: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CABP7 Gene

Orthologs for CABP7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CABP7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CABP7 30 31
  • 95.09 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cabp7 30 17 31
  • 94.11 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CABP7 30 31
  • 93.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cabp7 30
  • 93.18 (n)
Cow
(Bos Taurus)
Mammalia CABP7 30 31
  • 93.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CABP7 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CABP7 30 31
  • 91.81 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cabp7 30
  • 77.52 (n)
Zebrafish
(Danio rerio)
Actinopterygii CABP7 (2 of 2) 31
  • 82 (a)
OneToMany
cabp7b 30 31
  • 72.93 (n)
OneToMany
Species where no ortholog for CABP7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CABP7 Gene

ENSEMBL:
Gene Tree for CABP7 (if available)
TreeFam:
Gene Tree for CABP7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CABP7: view image

Paralogs for CABP7 Gene

(4) SIMAP similar genes for CABP7 Gene using alignment to 1 proteins:

  • CABP7_HUMAN
genes like me logo Genes that share paralogs with CABP7: view

Variants for CABP7 Gene

Additional dbSNP identifiers (rs#s) for CABP7 Gene

Structural Variations from Database of Genomic Variants (DGV) for CABP7 Gene

Variant ID Type Subtype PubMed ID
nsv1110864 OTHER inversion 24896259
nsv471194 CNV gain 18288195
nsv471195 CNV loss 18288195
nsv478406 CNV novel sequence insertion 20440878
nsv515720 CNV gain+loss 19592680

Variation tolerance for CABP7 Gene

Residual Variation Intolerance Score: 23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CABP7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CABP7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CABP7 Gene

Disorders for CABP7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CABP7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
vohwinkel syndrome
  • vownkl
- elite association - COSMIC cancer census association via MalaCards
Search CABP7 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CABP7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CABP7 Gene

Publications for CABP7 Gene

  1. Solution NMR structure of the Ca2+-bound N-terminal domain of CaBP7: a regulator of golgi trafficking. (PMID: 22989873) McCue HV … Haynes LP (The Journal of biological chemistry 2012) 3 4
  2. Membrane targeting of the EF-hand containing calcium-sensing proteins CaBP7 and CaBP8. (PMID: 19338761) McCue HV … Haynes LP (Biochemical and biophysical research communications 2009) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Calcium-binding proteins: intracellular sensors from the calmodulin superfamily. (PMID: 11785943) Haeseleer F … Palczewski K (Biochemical and biophysical research communications 2002) 2 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for CABP7 Gene

Sources for CABP7 Gene