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

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: mouse all
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Genomic context

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance.
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.
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.

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS8197 (e-PCR)
- UniSTS:10262

DXS8210 (e-PCR)
- UniSTS:57648

RH70847 (e-PCR)
- UniSTS:67889

U23913 (e-PCR)
- UniSTS:75360

AL035132 (e-PCR)
- UniSTS:94642

RRM2_8603 (e-PCR)
- UniSTS:468662

EFHC2 (e-PCR)
- UniSTS:506564

DXS7952 (e-PCR)
- UniSTS:154363

AF020178 (e-PCR)
- UniSTS:43775

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

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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

NG_021391.2 RefSeqGene

Range

5000..200800

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

44147872..44343672 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442535.1 → XP_047298491.1 EF-hand domain-containing family member C2 isoform X1
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)
XM_047442536.1 → XP_047298492.1 EF-hand domain-containing family member C2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

43554179..43750009 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054327916.1 → XP_054183891.1 EF-hand domain-containing family member C2 isoform X1
XM_054327918.1 → XP_054183893.1 EF-hand domain-containing family member C2 isoform X3
XM_054327917.1 → XP_054183892.1 EF-hand domain-containing family member C2 isoform X2