Protein-coding gene in humans
EFHC2 Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2Z13, 2Z14
Identifiers Aliases EFHC2 , MRX74, dJ1158H2.1, EF-hand domain containing 2External IDs OMIM: 300817; MGI: 1921655; HomoloGene: 11863; GeneCards: EFHC2; OMA:EFHC2 - orthologs Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.3 Start 44,147,872 bp[1] End 44,343,672 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A1.2 Start 16,998,288 bp[2] End 17,185,607 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell Epithelium of choroid plexus right uterine tube caput epididymis secondary oocyte olfactory zone of nasal mucosa mucosa of paranasal sinus optic nerve sperm testicle
Top expressed in spermatid zygote oocyte primary oocyte secondary oocyte seminiferous tubule Epithelium of choroid plexus spinal ganglia tail of embryo embryo
More reference expression data
BioGPS
Gene ontology Molecular function
protein binding
calcium ion binding Cellular component Biological process
cellular response to leukemia inhibitory factor
regulation of neuron projection development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez Ensembl UniProt RefSeq (mRNA) RefSeq (protein) Location (UCSC) Chr X: 44.15 – 44.34 Mb Chr X: 17 – 17.19 Mb PubMed search [3] [4]
Wikidata View/Edit Human View/Edit Mouse
EF-hand domain (C-terminal) containing 2 is a protein that in humans is encoded by the EFHC2 gene.[5] [6]
^ a b c GRCh38: Ensembl release 89: ENSG00000183690 – Ensembl, May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025038 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine . ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine . ^ "Entrez Gene: EF-hand domain (C-terminal) containing 2". Retrieved 2012-05-07 . ^ Cite error: The named reference Gu_2005 was invoked but never defined (see the help page).
Last Update: 2024-01-21T12:55:22Z
humans is encoded by the EFHC2 gene. EFHC2 is located on the negative strand (sense strand) of the X chromosome at p11.3. EFHC2 is one of a few, select...
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Last Update: 2024-04-30T21:05:12Z
Uncharacterized protein CXorf67 DACH2: encoding protein Dachshund homolog 2 EFHC2 : encoding protein EF-hand domain (C-terminal) containing 2 ERCC6L encoding...
Word Count : 3872
Last Update: 2023-12-24T05:09:54Z
shown to mutations in the genes GABRA1, CACNB4, CLCN2, GABRD2, EFHC1, and EFHC2 . This type of IGE can present at almost any age and is poorly characterized...
Word Count : 678
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