EFCAB9 EF-hand calcium binding domain 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EFCAB9provided by HGNC
Official Full Name: EF-hand calcium binding domain 9provided by HGNC
Primary source: HGNC:HGNC:34530
See related: Ensembl:ENSG00000214360 MIM:618520; AllianceGenome:HGNC:34530
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a canonical twelve-residue sequence that coordinates a calcium molecule with pentagonal bipyramidal symmetry. [provided by RefSeq, Jul 2017]
Expression: Biased expression in testis (RPKM 2.8), spleen (RPKM 2.1) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (172194172..172203454)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (172734472..172743747)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (171621176..171630458)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Submit: New GeneRIF Correction

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)

General gene information

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Markers

RH93379 (e-PCR)
- UniSTS:90378

SHGC-58952 (e-PCR)
- UniSTS:94489

WI-22520 (e-PCR)
- UniSTS:24273

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion sensor activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion sensor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in flagellated sperm motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in sperm capacitation	IBA Inferred from Biological aspect of Ancestor more info
involved_in sperm capacitation	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of CatSper complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sperm principal piece	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm principal piece	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: EF-hand calcium-binding domain-containing protein 9

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_001171183.2 → NP_001164654.1 EF-hand calcium-binding domain-containing protein 9

See identical proteins and their annotated locations for NP_001164654.1

Status: REVIEWED

Source sequence(s)

AC024561, AI024830, CN445899

Consensus CDS

CCDS54946.1

UniProtKB/Swiss-Prot

A8MZ26

Related

ENSP00000381247.4, ENST00000398186.5

Conserved Domains (2) summary

pfam13499
Location:108 → 162

EF-hand_7; EF-hand domain pair

cl08302
Location:110 → 161

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 ...