CALHM3 calcium homeostasis modulator 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CALHM3provided by HGNC
Official Full Name: calcium homeostasis modulator 3provided by HGNC
Primary source: HGNC:HGNC:23458
See related: Ensembl:ENSG00000183128 MIM:618263; AllianceGenome:HGNC:23458
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: FAM26A; bA225H22.7
Summary: Predicted to enable monoatomic cation channel activity and voltage-gated monoatomic ion channel activity. Predicted to be involved in ATP transport; protein heterooligomerization; and sensory perception of taste. Predicted to be located in basolateral plasma membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 10q24.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (103472804..103479240, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (104360104..104366544, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (105232561..105238997, complement)

Chromosome 10 - NC_000010.11 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: 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?

This study failed to show an association between theeight SNPs of the CALHM3 genes and alzheimer disease.
Title: Genetic association between CALHM1, 2, and 3 polymorphisms and Alzheimer's disease in a Japanese population.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Genetic association between CALHM1, 2, and 3 polymorphisms and Alzheimer's disease in a Japanese population.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

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

EBI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	IEA Inferred from Electronic Annotation more info
enables monoatomic cation channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated monoatomic ion channel activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in ATP export	IEA Inferred from Electronic Annotation more info
involved_in ATP transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in protein heterooligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in sensory perception of taste	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: calcium homeostasis modulator protein 3

Names: family with sequence similarity 26, member A; protein A

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_001129742.2 → NP_001123214.1 calcium homeostasis modulator protein 3

See identical proteins and their annotated locations for NP_001123214.1

Status: VALIDATED

Source sequence(s)

AL139339, BC039499, BC043367

Consensus CDS

CCDS44476.1

UniProtKB/Swiss-Prot

Q5W090, Q86XJ0, Q8IXR2

Related

ENSP00000358798.4, ENST00000369783.4

Conserved Domains (1) summary

pfam14798
Location:4 → 251

Ca_hom_mod; Calcium homeostasis modulator

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_000010.11 Reference GRCh38.p14 Primary Assembly

Range

103472804..103479240 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

104360104..104366544 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_182494.1: Suppressed sequence

Description

NM_182494.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.