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EFCAB14 EF-hand calcium binding domain 14 [ Homo sapiens (human) ]

Gene ID: 9813, updated on 19-Aug-2025
Official Symbol
EFCAB14provided by HGNC
Official Full Name
EF-hand calcium binding domain 14provided by HGNC
Primary source
HGNC:HGNC:29051
See related
Ensembl:ENSG00000159658 MIM:619559; AllianceGenome:HGNC:29051
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
Also known as
KIAA0494
Summary
Predicted to enable calcium ion binding activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
Expression
Ubiquitous expression in stomach (RPKM 36.1), fat (RPKM 35.6) and 25 other tissues See more
Orthologs
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See EFCAB14 in Genome Data Viewer
Location:
1p33
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46675159..46719114, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46552399..46596351, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47140831..47184786, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATP synthase mitochondrial F1 complex assembly factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47131482-47132011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47132012-47132540 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47133653-47133823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1007 Neighboring gene EFCAB14 antisense RNA 1 Neighboring gene neudesin neurotrophic factor pseudogene 1 Neighboring gene uncharacterized LOC105378698 Neighboring gene testis expressed 38 Neighboring gene Sharpr-MPRA regulatory region 7632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47193413-47194254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47194255-47195096 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47210608-47210835 Neighboring gene uncharacterized LOC105378699 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:47256389-47256889 Neighboring gene cytochrome P450 family 4 subfamily B member 1

Go to nucleotide: Graphics FASTA GenBank

  • 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

Related articles in PubMed

  1. Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. Lange CM, et al. Hepatology, 2012 Apr. PMID 22095909
  2. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. Seki N, et al. DNA Res, 1997 Oct 31. PMID 9455484
  3. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. Szafranski K, et al. Genome Biol, 2007. PMID 17672918, Free PMC Article
  4. Extracellular proximal interaction profiling by cell surface-targeted TurboID reveals LDLR as a partner of liganded EGFR. Al Mismar R, et al. Sci Signal, 2024 Nov 5. PMID 39499777
  5. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. So J, et al. Sci Signal, 2015 Apr 7. PMID 25852190

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. occurrence of an unusual TG 3' splice site in intron 1
    Title: Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
Submit: New GeneRIF Correction

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.
EBI GWAS Catalog

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0494

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
EF-hand calcium-binding domain-containing protein 14

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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_014774.3 → NP_055589.1  EF-hand calcium-binding domain-containing protein 14

    See identical proteins and their annotated locations for NP_055589.1

    Status: VALIDATED

    Source sequence(s)
    AA974135, AB007963, AL593856, BC002525
    Consensus CDS
    CCDS30706.1
    UniProtKB/Swiss-Prot
    D3DQ23, O75071, Q5SXB8
    UniProtKB/TrEMBL
    A0A804H3B5
    Related
    ENSP00000361001.3, ENST00000371933.8
    Conserved Domains (2) summary
    cl08302
    Location:438 → 489
    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 ...
    cl25732
    Location:98 → 387
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    46675159..46719114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    46552399..46596351 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75071.1 GenPept UniProtKB/Swiss-Prot:O75071

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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