U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Protein

    • Showing Current items.

    EFHC2 EF-hand domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 80258, updated on 5-May-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    EFHC2provided by HGNC
    Official Full Name
    EF-hand domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:26233
    See related
    Ensembl:ENSG00000183690 MIM:300817; AllianceGenome:HGNC:26233
    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
    MRX74; dJ1158H2.1
    Summary
    This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in testis (RPKM 3.2), endometrium (RPKM 1.6) and 19 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    Xp11.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (44147872..44343672, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (43554179..43750009, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (44007118..44202918, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:43808655-43809172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:43809173-43809689 Neighboring gene NDP antisense RNA 1 Neighboring gene norrin cystine knot growth factor NDP Neighboring gene RBM39 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20782 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:44111858-44112711 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:44112712-44113564 Neighboring gene Sharpr-MPRA regulatory region 13194 Neighboring gene TatD DNase domain containing 2 pseudogene 1 Neighboring gene ribonucleotide reductase M2 polypeptide pseudogene 3 Neighboring gene ubinuclein 1 pseudogene Neighboring gene farnesyl diphosphate synthase pseudogene 5

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy. Berrin T, et al. Afr Health Sci, 2015 Dec. PMID 26958022, Free PMC Article
    2. Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males. Startin CM, et al. PLoS One, 2015. PMID 26107779, Free PMC Article
    3. Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance. Blaya C, et al. Neurosci Lett, 2009 Mar 6. PMID 19429002
    4. EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome. Zinn AR, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Jun 5. PMID 17948898
    5. Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome. Weiss LA, et al. Hum Mol Genet, 2007 Jan 1. PMID 17164267

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our observations provide new information on the genotype-phenotype relations of MAOA/B and EFHC2 genes involved in the contiguous deletions of Norrie disease.Based on the case of our observation, contiguous deletion with only one of the MAO genes (MAOB) may not cause psychomotor disability, and deletion of EFHC2may not contribute to epilepsy.
      Title: A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.
    2. In our series of 96 IGE patients and 96 healthy controls, there was no relation between S430Y polymorphism in EFHC2 gene and IGE presence.
      Title: No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy.
    3. EFHC2 variation at SNP rs7055196 is associated with social cognitive abilities in males
      Title: Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males.
    4. This study found that the association between a variant in EFHC2 with the processing of fear and social threat and harm reduction.
      Title: Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance.
    5. no evidence of an association between rs7055196 genotype and fear recognition
      Title: EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance.
    7. An association with the gonosomal gene EFHC2 would be in accordance with the observed preponderance of maternal inheritance in juvenile myoclonic epilepsy maternal inheritance of juvenile myoclonic epilepsy.
      Title: A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.
    8. EFHC2 shows genealogy and extended LD consistent with directional selection. This novel QTL may influence social cognition in the general population and in autism.
      Title: Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

    Go to the top of the page Help

    Replication interactions

    Interaction Pubs
    Knockdown of EF-hand domain (C-terminal) containing 2 (EFHC2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ22601, FLJ22843, DKFZp686G08235

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in axonemal A tubule inner sheath IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    EF-hand domain-containing family member C2
    Names
    EF-hand domain (C-terminal) containing 2

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_021391.2 RefSeqGene

      Range
      5000..200800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025184.4 → NP_079460.2  EF-hand domain-containing family member C2

      See identical proteins and their annotated locations for NP_079460.2

      Status: VALIDATED

      Source sequence(s)
      AC018719, AL133344, AL359744
      Consensus CDS
      CCDS55405.1
      UniProtKB/Swiss-Prot
      Q5JST6, Q5JST8, Q68DK4, Q8NEI0, Q9H653
      UniProtKB/TrEMBL
      A8K572
      Related
      ENSP00000404232.2, ENST00000420999.2
      Conserved Domains (2) summary
      smart00676
      Location:75 → 182
      DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
      pfam06565
      Location:419 → 530
      DUF1126; DUF1126 PH-like domain

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      44147872..44343672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442535.1 → XP_047298491.1  EF-hand domain-containing family member C2 isoform X1

    2. XM_006724562.3 → XP_006724625.1  EF-hand domain-containing family member C2 isoform X3

      Conserved Domains (2) summary
      smart00676
      Location:236 → 342
      DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
      pfam06565
      Location:258 → 290
      DUF1126; Repeat of unknown function (DUF1126)

    3. XM_047442536.1 → XP_047298492.1  EF-hand domain-containing family member C2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      43554179..43750009 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327916.1 → XP_054183891.1  EF-hand domain-containing family member C2 isoform X1

    2. XM_054327918.1 → XP_054183893.1  EF-hand domain-containing family member C2 isoform X3

    3. XM_054327917.1 → XP_054183892.1  EF-hand domain-containing family member C2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JST6.2 GenPept UniProtKB/Swiss-Prot:Q5JST6

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous