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

Gene ID: 80258, updated on 23-Nov-2021

Summary

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
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
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Genomic context

See EFHC2 in Genome Data Viewer
Location:
Xp11.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (44146254..44343672, complement)
105.20201022 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 NDP antisense RNA 1 Neighboring gene norrin cystine knot growth factor NDP Neighboring gene RBM39 pseudogene 1 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

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22601, FLJ22843, DKFZp686G08235

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 cilium-dependent cell motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitotic cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitotic spindle organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
is_active_in mitotic spindle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
EF-hand domain-containing family member C2
Names
EF-hand domain (C-terminal) containing 2
mental retardation, X-linked 74

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.

Genomic

  1. NG_021391.1 RefSeqGene

    Range
    5001..200797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_025184.4NP_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
    Related
    ENSP00000404232.2, ENST00000420999.2
    Conserved Domains (2) summary
    smart00676
    Location:75182
    DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
    pfam06565
    Location:419530
    DUF1126; DUF1126 PH-like domain

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_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    44146254..44343672 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452453.1XP_024308221.1  EF-hand domain-containing family member C2 isoform X1

    Conserved Domains (2) summary
    smart00676
    Location:43150
    DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
    pfam06565
    Location:387498
    DUF1126; DUF1126 PH-like domain
  2. XM_006724562.2XP_006724625.1  EF-hand domain-containing family member C2 isoform X2

    Conserved Domains (2) summary
    smart00676
    Location:236342
    DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
    pfam06565
    Location:258290
    DUF1126; Repeat of unknown function (DUF1126)

RNA

  1. XR_949019.1 RNA Sequence

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