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    EFCAB8 EF-hand calcium binding domain 8 [ Homo sapiens (human) ]

    Gene ID: 388795, updated on 5-Mar-2024

    Summary

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    Official Symbol
    EFCAB8provided by HGNC
    Official Full Name
    EF-hand calcium binding domain 8provided by HGNC
    Primary source
    HGNC:HGNC:34532
    See related
    Ensembl:ENSG00000215529 AllianceGenome:HGNC:34532
    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, Apr 2022]
    Expression
    Biased expression in testis (RPKM 1.1), urinary bladder (RPKM 0.1) and 5 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    20q11.21
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32858923..32961845)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34585603..34688526)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31446729..31549651)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31408139-31408808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31408809-31409478 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31420386-31420886 Neighboring gene microtubule associated protein RP/EB family member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31428835-31429334 Neighboring gene uncharacterized LOC119746555 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31446596-31447408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31462588-31463558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31463559-31464528 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60089 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31467763-31467940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31474801-31475642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31479663-31480402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31480940-31481452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31481453-31481964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31481965-31482476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31482477-31482988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31494551-31495051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31505783-31506299 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:31538047-31538855 Neighboring gene uncharacterized LOC124904887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31557307-31558259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31558260-31559211 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31559855-31560362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31560363-31560871 Neighboring gene VISTA enhancer hs2101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31588518-31589018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31589019-31589519 Neighboring gene Sad1 and UNC84 domain containing 5

    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. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    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 8
    Names
    EF-hand domain-containing protein ENSP00000383366

    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_001143967.2 → NP_001137439.1  EF-hand calcium-binding domain-containing protein 8

      Status: VALIDATED

      Source sequence(s)
      AL035071, AL139826, AL390298
      UniProtKB/TrEMBL
      A0A096LNH2
      Related
      ENSP00000383366.5, ENST00000400522.9
      Conserved Domains (4) summary
      COG2319
      Location:815 → 982
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:373 → 411
      7WD40; WD40 repeat [structural motif]
      pfam13499
      Location:56 → 117
      EF-hand_7; EF-hand domain pair
      cl25539
      Location:322 → 592
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      32858923..32961845
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451883.2 → XP_024307651.1  EF-hand calcium-binding domain-containing protein 8 isoform X3

      Conserved Domains (3) summary
      sd00039
      Location:373 → 411
      7WD40; WD40 repeat [structural motif]
      pfam13499
      Location:56 → 117
      EF-hand_7; EF-hand domain pair
      cl25539
      Location:322 → 592
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. XM_024451882.2 → XP_024307650.1  EF-hand calcium-binding domain-containing protein 8 isoform X2

      Conserved Domains (3) summary
      sd00039
      Location:373 → 411
      7WD40; WD40 repeat [structural motif]
      pfam13499
      Location:56 → 117
      EF-hand_7; EF-hand domain pair
      cl25539
      Location:322 → 592
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. XM_047440146.1 → XP_047296102.1  EF-hand calcium-binding domain-containing protein 8 isoform X4

    4. XM_024451885.2 → XP_024307653.1  EF-hand calcium-binding domain-containing protein 8 isoform X6

      Conserved Domains (3) summary
      sd00039
      Location:329 → 369
      7WD40; WD40 repeat [structural motif]
      pfam13499
      Location:56 → 117
      EF-hand_7; EF-hand domain pair
      cl25539
      Location:322 → 592
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. XM_047440147.1 → XP_047296103.1  EF-hand calcium-binding domain-containing protein 8 isoform X6

    6. XM_024451881.1 → XP_024307649.1  EF-hand calcium-binding domain-containing protein 8 isoform X1

      Conserved Domains (3) summary
      COG2319
      Location:631 → 798
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:145 → 185
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:138 → 408
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    7. XM_024451886.1 → XP_024307654.1  EF-hand calcium-binding domain-containing protein 8 isoform X7

      Conserved Domains (1) summary
      COG2319
      Location:173 → 340
      WD40; WD40 repeat [General function prediction only]

    8. XM_024451884.2 → XP_024307652.1  EF-hand calcium-binding domain-containing protein 8 isoform X5

      Conserved Domains (1) summary
      COG2319
      Location:214 → 381
      WD40; WD40 repeat [General function prediction only]

    9. XM_024451887.1 → XP_024307655.1  EF-hand calcium-binding domain-containing protein 8 isoform X7

      Conserved Domains (1) summary
      COG2319
      Location:173 → 340
      WD40; WD40 repeat [General function prediction only]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      34585603..34688526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323435.1 → XP_054179410.1  EF-hand calcium-binding domain-containing protein 8 isoform X3

    2. XM_054323434.1 → XP_054179409.1  EF-hand calcium-binding domain-containing protein 8 isoform X2

    3. XM_054323436.1 → XP_054179411.1  EF-hand calcium-binding domain-containing protein 8 isoform X4

    4. XM_054323438.1 → XP_054179413.1  EF-hand calcium-binding domain-containing protein 8 isoform X6

    5. XM_054323439.1 → XP_054179414.1  EF-hand calcium-binding domain-containing protein 8 isoform X6

    6. XM_054323433.1 → XP_054179408.1  EF-hand calcium-binding domain-containing protein 8 isoform X1

    7. XM_054323440.1 → XP_054179415.1  EF-hand calcium-binding domain-containing protein 8 isoform X7

    8. XM_054323437.1 → XP_054179412.1  EF-hand calcium-binding domain-containing protein 8 isoform X5

    9. XM_054323441.1 → XP_054179416.1  EF-hand calcium-binding domain-containing protein 8 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MWE9.2 GenPept UniProtKB/Swiss-Prot:A8MWE9

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