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    EFCAB10 EF-hand calcium binding domain 10 [ Homo sapiens (human) ]

    Gene ID: 100130771, updated on 28-Oct-2024

    Summary

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    Official Symbol
    EFCAB10provided by HGNC
    Official Full Name
    EF-hand calcium binding domain 10provided by HGNC
    Primary source
    HGNC:HGNC:34531
    See related
    Ensembl:ENSG00000185055 AllianceGenome:HGNC:34531
    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, Oct 2024]
    Expression
    Broad expression in testis (RPKM 12.0), esophagus (RPKM 5.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EFCAB10 in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (105565124..105581493, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (106879330..106895701, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (105205571..105221940, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105107997-105108545 Neighboring gene pseudouridine synthase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105160613-105161230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105161545-105162199 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105163483-105163983 Neighboring gene ring finger protein 181 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26463 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105172266-105172843 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105172844-105173420 Neighboring gene RAD50 interactor 1 Neighboring gene EFCAB10 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105221332-105221844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105221845-105222355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26467 Neighboring gene Sharpr-MPRA regulatory region 14983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105241179-105241956 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105255907-105256408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105256409-105256908 Neighboring gene Y-box binding protein 1 pseudogene 2 Neighboring gene ataxin 7 like 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105279303-105279964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105281471-105282438 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:105288402-105288618 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:105288629-105289828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105293127-105293850 Neighboring gene Sharpr-MPRA regulatory region 7350 Neighboring gene Sharpr-MPRA regulatory region 5075 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105316356-105316856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105319379-105320318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105321123-105321622 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105329021-105329696 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105329697-105330372 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105330373-105331048 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:105331049-105331724 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105331725-105332400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105335755-105336518 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:105337283-105338044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26470 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105409403-105409904 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105409905-105410404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105412749-105413248 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:105416274-105417473 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:105423855-105424084 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105428411-105428946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105432252-105432810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105432811-105433367 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:105434917-105436116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105437186-105437686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26475 Neighboring gene ribosomal protein L13a pseudogene 16

    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 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. Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. Winham SJ, et al. Mol Psychiatry, 2014 Sep. PMID 24322204
    2. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    EF-hand calcium-binding domain-containing protein 10
    Names
    EF-hand domain-containing protein

    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_001355526.2 → NP_001342455.1  EF-hand calcium-binding domain-containing protein 10 isoform 1

      Status: VALIDATED

      Source sequence(s)
      BC105284, BE502251
      Consensus CDS
      CCDS87537.1
      UniProtKB/Swiss-Prot
      A6NFE3
      Related
      ENSP00000418678.1, ENST00000480514.6
      Conserved Domains (1) summary
      cd22976
      Location:7 → 53
      DD_EFCAB10; dimerization/docking (D/D) domain found in EF-hand calcium-binding domain-containing protein 10 (EFCAB10) and similar proteins

    2. NM_001355527.2 → NP_001342456.1  EF-hand calcium-binding domain-containing protein 10 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AI026823, BC062748
      Consensus CDS
      CCDS87536.1
      UniProtKB/TrEMBL
      J3KR48
      Related
      ENSP00000417484.1, ENST00000486180.5

    3. NM_001355529.2 → NP_001342458.1  EF-hand calcium-binding domain-containing protein 10 isoform 3

      Status: VALIDATED

      Source sequence(s)
      BC062748, DA101957
      Consensus CDS
      CCDS87535.1
      UniProtKB/TrEMBL
      C9J654
      Related
      ENSP00000418425.1, ENST00000460135.1

    4. NM_001355530.2 → NP_001342459.1  EF-hand calcium-binding domain-containing protein 10 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC073073
      Consensus CDS
      CCDS87538.1
      UniProtKB/TrEMBL
      J3KR52
      Related
      ENSP00000417841.1, ENST00000485614.5

    5. NM_001355531.2 → NP_001342460.1  EF-hand calcium-binding domain-containing protein 10 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC073073
      Conserved Domains (1) summary
      cl08302
      Location:70 → 118
      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 ...

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      105565124..105581493 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      106879330..106895701 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NFE3.2 GenPept UniProtKB/Swiss-Prot:A6NFE3

    Gene LinkOut

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

    Chemical Information
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