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

Gene ID: 80258, updated on 10-Dec-2024

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; 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
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Genomic context

See EFHC2 in Genome Data Viewer
Location:
Xp11.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (44147872..44343672, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (43554179..43750009, complement)
RS_2024_09 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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in axonemal A tubule inner sheath ISS
Inferred from Sequence or Structural Similarity
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
 
is_active_in sperm flagellum ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
EF-hand domain-containing family member C2
Names
EF-hand domain (C-terminal) containing 2

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_021391.2 RefSeqGene

    Range
    5000..200800
    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, Q5JST8, Q68DK4, Q8NEI0, Q9H653
    UniProtKB/TrEMBL
    A8K572
    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: GCF_000001405.40-RS_2024_08

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_047442535.1XP_047298491.1  EF-hand domain-containing family member C2 isoform X1

    UniProtKB/TrEMBL
    A8K572
  2. XM_006724562.3XP_006724625.1  EF-hand domain-containing family member C2 isoform X3

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

    UniProtKB/TrEMBL
    A8K572

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_054327916.1XP_054183891.1  EF-hand domain-containing family member C2 isoform X1

    UniProtKB/TrEMBL
    A8K572
  2. XM_054327918.1XP_054183893.1  EF-hand domain-containing family member C2 isoform X3

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

    UniProtKB/TrEMBL
    A8K572