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    EFHB EF-hand domain family member B [ Homo sapiens (human) ]

    Gene ID: 151651, updated on 27-Nov-2024

    Summary

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    Official Symbol
    EFHBprovided by HGNC
    Official Full Name
    EF-hand domain family member Bprovided by HGNC
    Primary source
    HGNC:HGNC:26330
    See related
    Ensembl:ENSG00000163576 AllianceGenome:HGNC:26330
    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
    CFAP21
    Summary
    Enables calcium ion sensor activity. Involved in regulation of calcineurin-NFAT signaling cascade and regulation of store-operated calcium entry. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 7.6), lung (RPKM 1.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See EFHB in Genome Data Viewer
    Location:
    3p24.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (19879472..19946983, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (19883550..19951207, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (19920964..19988475, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily H member 8 Neighboring gene uncharacterized LOC105376982 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:19491994-19493193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19576 Neighboring gene NANOG hESC enhancer GRCh37_chr3:19709582-19710083 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:19713203-19713703 Neighboring gene uncharacterized LOC105376984 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:19896761-19897348 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:19906013-19907212 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67669 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67675 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67680 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_67687 and experimental_67689 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67685 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67692 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67694 Neighboring gene Sharpr-MPRA regulatory region 12217 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:19987470-19988071 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_67714 and experimental_67716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19578 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:19989274-19989873 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67724 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67730 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67732 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 18 Neighboring gene RAB5A, member RAS oncogene family Neighboring gene RNA, U4 small nuclear 85, pseudogene Neighboring gene protein phosphatase 2C like domain containing 1

    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. EFHB is a Novel Cytosolic Ca2+ Sensor That Modulates STIM1-SARAF Interaction. Albarran L, et al. Cell Physiol Biochem, 2018. PMID 30481768
    2. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules. Gui M, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191189, Free PMC Article
    3. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. Faust TB, et al. Elife, 2018 May 30. PMID 29845934, Free PMC Article
    4. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
    5. 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

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EFHB is a new store-operated Ca2+ entry regulator that modulates STIM1-SARAF interaction.
      Title: EFHB is a Novel Cytosolic Ca2+ Sensor That Modulates STIM1-SARAF Interaction.
    2. EFHB is a Novel Cytosolic Ca2+ Sensor That Modulates STIM1-SARAF Interaction
      Title: EFHB is a Novel Cytosolic Ca2+ Sensor That Modulates STIM1-SARAF Interaction.
    3. 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25200

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium ion sensor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of calcineurin-NFAT signaling cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of store-operated calcium entry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axonemal A tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    EF-hand domain-containing family member B
    Names
    cilia and flagella associated protein 21

    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_001330688.2 → NP_001317617.1  EF-hand domain-containing family member B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC097635, AK122616, BC028198
      Consensus CDS
      CCDS82744.1
      UniProtKB/Swiss-Prot
      Q8N7U6
      Related
      ENSP00000342263.4, ENST00000344838.8

    2. NM_144715.4 → NP_653316.3  EF-hand domain-containing family member B isoform 1

      See identical proteins and their annotated locations for NP_653316.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC104182, AK097644, BC028198
      Consensus CDS
      CCDS33715.2
      UniProtKB/Swiss-Prot
      A6ND25, A8MPR3, Q6ZWK9, Q8IV58, Q8N7U6, Q96LQ6
      Related
      ENSP00000295824.9, ENST00000295824.14
      Conserved Domains (2) summary
      cd00051
      Location:566 → 626
      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:566 → 626
      EF-hand_7; EF-hand domain pair

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      19879472..19946983 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533385.3 → XP_011531687.1  EF-hand domain-containing family member B isoform X3

      Conserved Domains (2) summary
      cd00051
      Location:355 → 415
      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:355 → 415
      EF-hand_7; EF-hand domain pair

    2. XM_011533382.3 → XP_011531684.1  EF-hand domain-containing family member B isoform X1

      Conserved Domains (2) summary
      cd00051
      Location:545 → 605
      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:545 → 605
      EF-hand_7; EF-hand domain pair

    3. XM_005264889.3 → XP_005264946.1  EF-hand domain-containing family member B isoform X2

      Conserved Domains (2) summary
      cd00051
      Location:566 → 626
      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:566 → 626
      EF-hand_7; EF-hand domain pair

    4. XM_017005742.3 → XP_016861231.1  EF-hand domain-containing family member B isoform X4

    RNA

    1. XR_940383.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      19883550..19951207 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345337.1 → XP_054201312.1  EF-hand domain-containing family member B isoform X5

    2. XM_054345335.1 → XP_054201310.1  EF-hand domain-containing family member B isoform X3

    3. XM_054345333.1 → XP_054201308.1  EF-hand domain-containing family member B isoform X1

    4. XM_054345334.1 → XP_054201309.1  EF-hand domain-containing family member B isoform X2

    5. XM_054345336.1 → XP_054201311.1  EF-hand domain-containing family member B isoform X4

    RNA

    1. XR_008486663.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N7U6.4 GenPept UniProtKB/Swiss-Prot:Q8N7U6

    Gene LinkOut

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