CALHM6 calcium homeostasis modulator family member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CALHM6provided by HGNC
Official Full Name: calcium homeostasis modulator family member 6provided by HGNC
Primary source: HGNC:HGNC:33391
See related: Ensembl:ENSG00000188820 MIM:617305; AllianceGenome:HGNC:33391
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: INAM; FAM26F; C6orf187; dJ93H18.5
Summary: Predicted to enable monoatomic cation channel activity. Predicted to be involved in ATP export; monoatomic cation transmembrane transport; and regulation of natural killer cell cytokine production. Predicted to be located in immunological synapse. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in spleen (RPKM 28.1), appendix (RPKM 12.4) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (116461375..116463771)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (117645096..117647492)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (116782538..116784934)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FAM26F: An Enigmatic Protein Having a Complex Role in the Immune System.
Title: FAM26F: An Enigmatic Protein Having a Complex Role in the Immune System.
Effect of oxidative stress and calcium deregulation on FAM26F (CALHM6) expression during hepatitis B virus infection.
Title: Effect of oxidative stress and calcium deregulation on FAM26F (CALHM6) expression during hepatitis B virus infection.
CALHM6 is implicated in regulating the immune response to infection and may have a role in typical triggering of Steroid-Sensitive Nephrotic Syndrome (SSNS) onset by infections
Title: Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
FAM26F is a conserved, signal peptide deprived transmembrane protein that is secreted through non-classical pathway.FAM26F has an immunoglobulin-like fold which emphasizes its role in immune responses.
Title: Structural and functional annotation of human FAM26F: A multifaceted protein having a critical role in the immune system.
FAM26Fwas found to be consistently and significantly overexpressed in ulcerative colitis patients.
Title: A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.

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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
A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif downregulates the expression of family with sequence similarity 26, member F (FAM26F) in Vif-expression T cells	PubMed

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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 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 channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ATP export	IEA Inferred from Electronic Annotation more info
involved_in monoatomic cation transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of natural killer cell cytokine production	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in immunological synapse	IEA Inferred from Electronic Annotation 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 6

Names: IFN regulatory factor 3-dependent NK-activating molecule; family with sequence similarity 26 member F; protein FAM26F

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_001010919.3 → NP_001010919.1 calcium homeostasis modulator protein 6 isoform 1

See identical proteins and their annotated locations for NP_001010919.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AF086130, AV734646, BM704529, DN997293

Consensus CDS

CCDS34519.1

UniProtKB/Swiss-Prot

B9EJB0, Q5R3K3, Q5R3K4

Related

ENSP00000357594.1, ENST00000368605.3

Conserved Domains (1) summary

pfam14798
Location:2 → 246

Ca_hom_mod; Calcium homeostasis modulator
NM_001276460.2 → NP_001263389.1 calcium homeostasis modulator protein 6 isoform 2

See identical proteins and their annotated locations for NP_001263389.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an internal exon, which results in an alternate upstream start codon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AF086130, AV734646

Consensus CDS

CCDS64506.1

UniProtKB/TrEMBL

Q5R3K2

Related

ENSP00000357595.3, ENST00000368606.7

Conserved Domains (1) summary

pfam14798
Location:20 → 74

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

116461375..116463771

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011535845.4 → XP_011534147.1 calcium homeostasis modulator protein 6 isoform X1

Conserved Domains (1) summary

pfam14798
Location:4 → 268

Ca_hom_mod; Calcium homeostasis modulator