Efhc2 EF-hand domain (C-terminal) containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Efhc2provided by MGI
Official Full Name: EF-hand domain (C-terminal) containing 2provided by MGI
Primary source: MGI:MGI:1921655
See related: Ensembl:ENSMUSG00000025038 AllianceGenome:MGI:1921655
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mRib72-2; 4933407D04Rik
Summary: Predicted to enable alpha-tubulin binding activity. Acts upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in ciliary basal body. Predicted to be active in axoneme and mitotic spindle. Predicted to colocalize with microtubule. Orthologous to human EFHC2 (EF-hand domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 2.7), placenta adult (RPKM 0.8) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: X; X A1.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (16998288..17186291, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (17132049..17320049, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-43f1 (e-PCR)
- UniSTS:257797

px-34d12 (e-PCR)
- UniSTS:258382

px-8f2 (e-PCR)
- UniSTS:258219

NoName (e-PCR)
- UniSTS:238009

Homology

Homologs of the Efhc2 gene: The Efhc2 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 470 organisms have orthologs with human gene Efhc2
Orthologs

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of neuron projection development	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
colocalizes_with microtubule	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: EF-hand domain-containing family member C2

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.

mRNA and Protein(s)

NM_028916.5 → NP_083192.2 EF-hand domain-containing family member C2

See identical proteins and their annotated locations for NP_083192.2

Status: VALIDATED

Source sequence(s)

AK016714, AK029501, BE956904, BX004977

Consensus CDS

CCDS40883.1

UniProtKB/Swiss-Prot

Q8CDV9, Q9D485

UniProtKB/TrEMBL

Q059K2

Related

ENSMUSP00000026014.8, ENSMUST00000026014.8

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:103 → 135

DUF1126; Repeat of unknown function (DUF1126)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

16998288..17186291 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527706.5 → XP_006527769.1 EF-hand domain-containing family member C2 isoform X1

Conserved Domains (2) summary

smart00676
Location:42 → 149

DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases

pfam06565
Location:186 → 327

DUF1126; DUF1126 PH-like domain
XM_017318631.3 → XP_017174120.1 EF-hand domain-containing family member C2 isoform X2

Conserved Domains (1) summary

pfam06565
Location:23 → 164

DUF1126; DUF1126 PH-like domain