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

Gene ID: 388795, updated on 25-Jan-2022

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, Nov 2021]
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:
30
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (32853904..32961845)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31446729..31549415)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene DNA methyltransferase 3 beta Neighboring gene microtubule associated protein RP/EB family member 1 Neighboring gene uncharacterized LOC119746555 Neighboring gene VISTA enhancer hs2101 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 gene information

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

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
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    32853904..32961845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451883.1XP_024307651.1  EF-hand calcium-binding domain-containing protein 8 isoform X4

    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_024451882.1XP_024307650.1  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 ...
  3. XM_024451885.1XP_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 ...
  4. XM_011529121.1XP_011527423.1  EF-hand calcium-binding domain-containing protein 8 isoform X1

    UniProtKB/TrEMBL
    A0A096LNH2
    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 ...
  5. XM_024451881.1XP_024307649.1  EF-hand calcium-binding domain-containing protein 8 isoform X2

    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 ...
  6. 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]
  7. XM_024451884.1XP_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]
  8. 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]
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