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    EFCAB3 EF-hand calcium binding domain 3 [ Homo sapiens (human) ]

    Gene ID: 146779, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EFCAB3provided by HGNC
    Official Full Name
    EF-hand calcium binding domain 3provided by HGNC
    Primary source
    HGNC:HGNC:26379
    See related
    Ensembl:ENSG00000172421 MIM:619567; AllianceGenome:HGNC:26379
    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
    Summary
    Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 2.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See EFCAB3 in Genome Data Viewer
    Location:
    17q23.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (62370218..62416480)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (63240163..63286406)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (60447579..60493841)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L36a pseudogene 47 Neighboring gene uncharacterized LOC105371936 Neighboring gene uncharacterized LOC105371854 Neighboring gene RNA, U7 small nuclear 52 pseudogene Neighboring gene ribosomal protein lateral stalk subunit P2 pseudogene 5 Neighboring gene ribosomal protein S23 pseudogene 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:60500991-60501521 Neighboring gene methyltransferase 2A, tRNA N3-cytidine Neighboring gene uncharacterized LOC112268200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:60541227-60541728

    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. Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci. Lilue J, et al. Nat Genet, 2018 Nov. PMID 30275530, Free PMC Article
    2. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
    3. Protein interaction landscapes revealed by advanced in vivo cross-linking-mass spectrometry. Wheat A, et al. Proc Natl Acad Sci U S A, 2021 Aug 10. PMID 34349018, 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. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25818, MGC126801, MGC126827

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    EF-hand calcium-binding domain-containing protein 3

    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_001144933.2 → NP_001138405.1  EF-hand calcium-binding domain-containing protein 3 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC008026, AI218847, AK098684, EG327376
      Consensus CDS
      CCDS45751.1
      UniProtKB/Swiss-Prot
      Q8N7B9
      Related
      ENSP00000403932.2, ENST00000450662.7
      Conserved Domains (1) summary
      pfam13833
      Location:115 → 167
      EF-hand_8; EF-hand domain pair

    2. NM_173503.4 → NP_775774.1  EF-hand calcium-binding domain-containing protein 3 isoform b

      See identical proteins and their annotated locations for NP_775774.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks three exons in the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (b) with a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC008026, AI218847, AK098684
      Consensus CDS
      CCDS11632.1
      UniProtKB/Swiss-Prot
      J3KQM8, Q8N7B9
      Related
      ENSP00000302649.3, ENST00000305286.8
      Conserved Domains (1) summary
      pfam13833
      Location:63 → 115
      EF-hand_8; 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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      62370218..62416480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524380.2 → XP_011522682.1  EF-hand calcium-binding domain-containing protein 3 isoform X2

      See identical proteins and their annotated locations for XP_011522682.1

      UniProtKB/Swiss-Prot
      J3KQM8, Q8N7B9
      Conserved Domains (1) summary
      pfam13833
      Location:63 → 115
      EF-hand_8; EF-hand domain pair

    2. XM_011524381.3 → XP_011522683.2  EF-hand calcium-binding domain-containing protein 3 isoform X1

      Conserved Domains (1) summary
      pfam13833
      Location:85 → 136
      EF-hand_8; EF-hand domain pair

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      63240163..63286406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315160.1 → XP_054171135.1  EF-hand calcium-binding domain-containing protein 3 isoform X2

      UniProtKB/Swiss-Prot
      J3KQM8, Q8N7B9

    2. XM_054315159.1 → XP_054171134.1  EF-hand calcium-binding domain-containing protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N7B9.1 GenPept UniProtKB/Swiss-Prot:Q8N7B9

    Gene LinkOut

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

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