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

Gene ID: 100130771, updated on 8-Mar-2024

Summary

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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 AllianceGenome:HGNC:34531
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
Broad expression in testis (RPKM 12.0), esophagus (RPKM 5.0) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See EFCAB10 in Genome Data Viewer
Location:
7q22.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (105565124..105581493, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (106879330..106895701, complement)
105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105107997-105108545 Neighboring gene pseudouridine synthase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105160613-105161230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105161545-105162199 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105163483-105163983 Neighboring gene ring finger protein 181 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26463 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105172266-105172843 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105172844-105173420 Neighboring gene RAD50 interactor 1 Neighboring gene EFCAB10 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105221332-105221844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105221845-105222355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26467 Neighboring gene Sharpr-MPRA regulatory region 14983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105241179-105241956 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105255907-105256408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105256409-105256908 Neighboring gene Y-box binding protein 1 pseudogene 2 Neighboring gene ataxin 7 like 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105279303-105279964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105281471-105282438 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:105288402-105288618 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:105288629-105289828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105293127-105293850 Neighboring gene Sharpr-MPRA regulatory region 7350 Neighboring gene Sharpr-MPRA regulatory region 5075 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105316356-105316856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105319379-105320318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105321123-105321622 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105329021-105329696 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105329697-105330372 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105330373-105331048 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:105331049-105331724 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105331725-105332400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105335755-105336518 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:105337283-105338044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26470 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105409403-105409904 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105409905-105410404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105412749-105413248 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:105416274-105417473 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:105423855-105424084 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105428411-105428946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105432252-105432810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105432811-105433367 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:105434917-105436116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105437186-105437686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26475 Neighboring gene ribosomal protein L13a pseudogene 16

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. Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. Winham SJ, et al. Mol Psychiatry, 2014 Sep. PMID 24322204
  2. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
EBI GWAS Catalog

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

    Status: VALIDATED

    Source sequence(s)
    BC105284, BE502251
    Consensus CDS
    CCDS87537.1
    UniProtKB/Swiss-Prot
    A6NFE3
    Related
    ENSP00000418678.1, ENST00000480514.6
    Conserved Domains (1) summary
    cd22976
    Location:7 → 53
    DD_EFCAB10; dimerization/docking (D/D) domain found in EF-hand calcium-binding domain-containing protein 10 (EFCAB10) and similar proteins

  2. NM_001355527.2 → NP_001342456.1  EF-hand calcium-binding domain-containing protein 10 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AI026823, BC062748
    Consensus CDS
    CCDS87536.1
    UniProtKB/TrEMBL
    J3KR48
    Related
    ENSP00000417484.1, ENST00000486180.5

  3. NM_001355529.2 → NP_001342458.1  EF-hand calcium-binding domain-containing protein 10 isoform 3

    Status: VALIDATED

    Source sequence(s)
    BC062748, DA101957
    Consensus CDS
    CCDS87535.1
    UniProtKB/TrEMBL
    C9J654
    Related
    ENSP00000418425.1, ENST00000460135.1

  4. NM_001355530.2 → NP_001342459.1  EF-hand calcium-binding domain-containing protein 10 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC073073
    Consensus CDS
    CCDS87538.1
    UniProtKB/TrEMBL
    J3KR52
    Related
    ENSP00000417841.1, ENST00000485614.5

  5. NM_001355531.2 → NP_001342460.1  EF-hand calcium-binding domain-containing protein 10 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC073073
    Conserved Domains (1) summary
    cl08302
    Location:70 → 118
    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: 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_000007.14 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    106879330..106895701 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NFE3.2 GenPept UniProtKB/Swiss-Prot:A6NFE3

Gene LinkOut

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