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

Gene ID: 100130771, updated on 23-Nov-2021

Summary

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
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
Expression
Broad expression in testis (RPKM 12.0), esophagus (RPKM 5.0) and 24 other tissues See more
Orthologs
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Genomic context

See EFCAB10 in Genome Data Viewer
Location:
7q22.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (105565124..105581493, complement)
105.20201022 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 pseudouridine synthase 7 Neighboring gene ring finger protein 181 pseudogene Neighboring gene RAD50 interactor 1 Neighboring gene Y-box binding protein 1 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 12225

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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
GeneReviews: Not available

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

    Status: VALIDATED

    Source sequence(s)
    BC105284, BE502251
    Consensus CDS
    CCDS87537.1
    Related
    ENSP00000418678.1, ENST00000480514.6
  2. NM_001355527.2NP_001342456.1  EF-hand calcium-binding domain-containing protein 10 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AI026823, BC062748
    Consensus CDS
    CCDS87536.1
    Related
    ENSP00000417484.1, ENST00000486180.5
  3. NM_001355529.2NP_001342458.1  EF-hand calcium-binding domain-containing protein 10 isoform 3

    Status: VALIDATED

    Source sequence(s)
    BC062748, DA101957
    Consensus CDS
    CCDS87535.1
    Related
    ENSP00000418425.1, ENST00000460135.1
  4. NM_001355530.2NP_001342459.1  EF-hand calcium-binding domain-containing protein 10 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC073073
    Consensus CDS
    CCDS87538.1
    Related
    ENSP00000417841.1, ENST00000485614.5
  5. NM_001355531.2NP_001342460.1  EF-hand calcium-binding domain-containing protein 10 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC073073
    Conserved Domains (1) summary
    cl08302
    Location:70118
    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: 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_000007.14 Reference GRCh38.p13 Primary Assembly

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