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

Gene ID: 388795, updated on 8-Mar-2025

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, Mar 2025]
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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See EFCAB8 in Genome Data Viewer
Location:
20q11.21
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32858923..32961845)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34585603..34688526)
RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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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)

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_2024_08

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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