efhc2 EF-hand domain (C-terminal) containing 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: efhc2provided by ZNC
Official Full Name: EF-hand domain (C-terminal) containing 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-031001-10
See related: Ensembl:ENSDARG00000004204 AllianceGenome:ZFIN:ZDB-GENE-031001-10
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: cb847; flj22843; zgc:152706
Summary: Predicted to enable alpha-tubulin binding activity. Acts upstream of or within multi-ciliated epithelial cell differentiation and specification of pronephric distal tubule identity. Predicted to be active in axoneme and mitotic spindle. Predicted to colocalize with microtubule. Is expressed in several structures, including forerunner cell group; intermediate mesoderm; notochord; sensory system; and tail bud. Orthologous to human EFHC2 (EF-hand domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 9

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	9	NC_007120.7 (33758720..33781851, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	9	NC_007120.6 (33949535..33972666, complement)

Chromosome 9 - NC_007120.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within multi-ciliated epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within specification of pronephric distal tubule identity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axoneme	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation 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

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_001309817.1 → NP_001296746.1 EF-hand domain-containing family member C2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.

Source sequence(s)

BX572627, EB931990

UniProtKB/Swiss-Prot

Q08CU1, Q32TF8

UniProtKB/TrEMBL

A0A8M1P7B7, B8A5Q4

Related

ENSDARP00000010992.7, ENSDART00000008737.9

Conserved Domains (4) summary

smart00676
Location:75 → 178

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

COG5126
Location:553 → 691

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

pfam06565
Location:451 → 483

DUF1126; Repeat of unknown function (DUF1126)

cl08302
Location:635 → 695

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RNA

NR_132140.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BX572627, EB931990

Related

ENSDART00000142788.3

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

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

Reference GRCz11 Primary Assembly

Genomic

NC_007120.7 Reference GRCz11 Primary Assembly

Range

33758720..33781851 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_009304807.2 → XP_009303082.1 EF-hand domain-containing family member C2 isoform X1

UniProtKB/TrEMBL

A0A8M3AW60

Conserved Domains (2) summary

smart00676
Location:75 → 178

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

pfam06565
Location:451 → 483

DUF1126; Repeat of unknown function (DUF1126)