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CIB4 calcium and integrin binding family member 4 [ Homo sapiens (human) ]

Gene ID: 130106, updated on 5-Mar-2024

Summary

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Official Symbol
CIB4provided by HGNC
Official Full Name
calcium and integrin binding family member 4provided by HGNC
Primary source
HGNC:HGNC:33703
See related
Ensembl:ENSG00000157884 MIM:610646; AllianceGenome:HGNC:33703
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KIP4
Summary
Enables calcium ion binding activity and magnesium ion binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
2p23.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (26581205..26641366, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (26620353..26681744, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26804073..26864234, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26680500-26681070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26681071-26681640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26683329-26684034 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:26685720-26686919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26703326-26703826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26704893-26705698 Neighboring gene otoferlin Neighboring gene ReSE screen-validated silencer GRCh37_chr2:26712674-26712916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26728504-26729004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26734217-26735140 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:26744163-26744328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26759696-26760624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26760625-26761553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26765926-26766660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26780985-26781778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26781779-26782571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26785229-26785729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26788976-26789481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26799126-26799700 Neighboring gene ciliary microtubule inner protein 2C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26813715-26814459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26814460-26815203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26821036-26821536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26856058-26856598 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:26878417-26879132 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:26888285-26888441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26892685-26893186 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:26894826-26895015 Neighboring gene Sharpr-MPRA regulatory region 9124 Neighboring gene ribosomal protein L37 pseudogene 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26919925-26920426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:26929035-26929932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26932169-26933090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26933091-26934010 Neighboring gene potassium two pore domain channel subfamily K member 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:26946480-26947679

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Structural and biochemical characterization of CIB1 delineates a new family of EF-hand-containing proteins. Gentry HR, et al. J Biol Chem, 2005 Mar 4. PMID 15574431
  2. Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences. Huang H, et al. Biochem Cell Biol, 2012 Oct. PMID 22779914
  3. Genome-wide association study of periodontal pathogen colonization. Divaris K, et al. J Dent Res, 2012 Jul. PMID 22699663, Free PMC Article
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CIB4, as binding partners for the integrin alphaIIb subunit, which suggests that they are potentially involved in regulating integrin alphaIIb subunit activation.
    Title: Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of periodontal pathogen colonization.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables magnesium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
calcium and integrin-binding family member 4

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001029881.3 → NP_001025052.1  calcium and integrin-binding family member 4

    See identical proteins and their annotated locations for NP_001025052.1

    Status: VALIDATED

    Source sequence(s)
    AC015977, AW138422, BC127684
    Consensus CDS
    CCDS33160.1
    UniProtKB/Swiss-Prot
    A0PJX0, B2RU18
    Related
    ENSP00000288861.4, ENST00000288861.5
    Conserved Domains (1) summary
    pfam13499
    Location:101 → 168
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    26581205..26641366 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532514.3 → XP_011530816.1  calcium and integrin-binding family member 4 isoform X1

    See identical proteins and their annotated locations for XP_011530816.1

    Conserved Domains (2) summary
    cd00051
    Location:117 → 185
    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 ...
    pfam13499
    Location:118 → 184
    EF-hand_7; EF-hand domain pair

  2. XM_017003329.2 → XP_016858818.1  calcium and integrin-binding family member 4 isoform X2

  3. XM_017003330.3 → XP_016858819.1  calcium and integrin-binding family member 4 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    26620353..26681744 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340510.1 → XP_054196485.1  calcium and integrin-binding family member 4 isoform X1

  2. XM_054340511.1 → XP_054196486.1  calcium and integrin-binding family member 4 isoform X2

  3. XM_054340512.1 → XP_054196487.1  calcium and integrin-binding family member 4 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0PJX0.1 GenPept UniProtKB/Swiss-Prot:A0PJX0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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