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

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

Summary

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

See EFCAB8 in Genome Data Viewer
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

Expression

  • 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

General protein information

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_001143967.2NP_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:815982
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:373411
    7WD40; WD40 repeat [structural motif]
    pfam13499
    Location:56117
    EF-hand_7; EF-hand domain pair
    cl25539
    Location:322592
    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_024451883.2XP_024307651.1  EF-hand calcium-binding domain-containing protein 8 isoform X3

    Conserved Domains (3) summary
    sd00039
    Location:373411
    7WD40; WD40 repeat [structural motif]
    pfam13499
    Location:56117
    EF-hand_7; EF-hand domain pair
    cl25539
    Location:322592
    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_024451882.2XP_024307650.1  EF-hand calcium-binding domain-containing protein 8 isoform X2

    Conserved Domains (3) summary
    sd00039
    Location:373411
    7WD40; WD40 repeat [structural motif]
    pfam13499
    Location:56117
    EF-hand_7; EF-hand domain pair
    cl25539
    Location:322592
    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_047440146.1XP_047296102.1  EF-hand calcium-binding domain-containing protein 8 isoform X4

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

    Conserved Domains (3) summary
    sd00039
    Location:329369
    7WD40; WD40 repeat [structural motif]
    pfam13499
    Location:56117
    EF-hand_7; EF-hand domain pair
    cl25539
    Location:322592
    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_047440147.1XP_047296103.1  EF-hand calcium-binding domain-containing protein 8 isoform X6

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

    Conserved Domains (3) summary
    COG2319
    Location:631798
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:145185
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:138408
    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_024451886.1XP_024307654.1  EF-hand calcium-binding domain-containing protein 8 isoform X7

    Conserved Domains (1) summary
    COG2319
    Location:173340
    WD40; WD40 repeat [General function prediction only]
  8. XM_024451884.2XP_024307652.1  EF-hand calcium-binding domain-containing protein 8 isoform X5

    Conserved Domains (1) summary
    COG2319
    Location:214381
    WD40; WD40 repeat [General function prediction only]
  9. XM_024451887.1XP_024307655.1  EF-hand calcium-binding domain-containing protein 8 isoform X7

    Conserved Domains (1) summary
    COG2319
    Location:173340
    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_054323435.1XP_054179410.1  EF-hand calcium-binding domain-containing protein 8 isoform X3

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

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

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

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

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

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

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

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