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CLMN calmin [ Homo sapiens (human) ]

Gene ID: 79789, updated on 3-Apr-2024

Summary

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Official Symbol
CLMNprovided by HGNC
Official Full Name
calminprovided by HGNC
Primary source
HGNC:HGNC:19972
See related
Ensembl:ENSG00000165959 MIM:611121; AllianceGenome:HGNC:19972
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
Summary
Predicted to enable actin filament binding activity. Predicted to be involved in negative regulation of cell population proliferation and nuclear migration. Predicted to act upstream of or within neuron projection development. Predicted to be integral component of membrane. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in cytoplasm and nuclear outer membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 7.5), kidney (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

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See CLMN in Genome Data Viewer
Location:
14q32.13
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (95181940..95319908, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (89412156..89550109, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (95648277..95786245, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene dicer 1, ribonuclease III Neighboring gene microRNA 3173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8948 Neighboring gene DICER1 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:95662653-95662819 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:95665195-95666123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:95719574-95720500 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:95720501-95721426 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:95721427-95722352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:95725084-95725755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:95725756-95726426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:95727628-95728254 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:95731514-95732713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:95769323-95769824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6045 Neighboring gene uncharacterized LOC105370637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8956 Neighboring gene uncharacterized LOC124903371 Neighboring gene long intergenic non-protein coding RNA 2292

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Calmin, a protein with calponin homology and transmembrane domains expressed in maturing spermatogenic cells. Ishisaki Z, et al. Genomics, 2001 Jun 1. PMID 11386753
  2. Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. Adkins DE, et al. Mol Psychiatry, 2011 Mar. PMID 20195266, Free PMC Article
  3. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. Sherva R, et al. Alzheimers Dement, 2014 Jan. PMID 23535033, Free PMC Article
  4. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. Seki N, et al. DNA Res, 1997 Oct 31. PMID 9455484
  5. Protein phosphatase 1γ isoforms linked interactions in the brain. Esteves SL, et al. J Mol Neurosci, 2013 May. PMID 23080069

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

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
Genetic variants associated with breast size also influence breast cancer risk.
EBI GWAS Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
EBI GWAS Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
EBI GWAS Catalog
Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of calmin (CLMN) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12383, FLJ43048, KIAA0500, KIAA1188

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in negative regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuron projection development IEA
Inferred from Electronic Annotation
more info
  
involved_in nuclear migration IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of meiotic nuclear membrane microtubule tethering complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nuclear outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
calmin
Names
calmin (calponin-like, transmembrane)
calponin-like transmembrane domain protein

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)

  1. NM_024734.4 → NP_079010.2  calmin

    See identical proteins and their annotated locations for NP_079010.2

    Status: VALIDATED

    Source sequence(s)
    AB007969, AB047979, AL356017, BC068482, CB155696
    Consensus CDS
    CCDS9933.1
    UniProtKB/Swiss-Prot
    B2RAR7, Q96JQ2, Q9H713, Q9HA23, Q9HA57, Q9UFP4, Q9ULN2
    UniProtKB/TrEMBL
    Q6NUQ2
    Related
    ENSP00000298912.3, ENST00000298912.9
    Conserved Domains (1) summary
    pfam00307
    Location:33 → 134
    CH; Calponin homology (CH) domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    95181940..95319908 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537158.2 → XP_011535460.1  calmin isoform X1

    UniProtKB/TrEMBL
    Q6NUQ2
    Conserved Domains (1) summary
    pfam00307
    Location:33 → 134
    CH; Calponin homology (CH) domain

  2. XM_017021646.2 → XP_016877135.1  calmin isoform X2

    UniProtKB/TrEMBL
    Q6NUQ2

  3. XM_011537159.3 → XP_011535461.1  calmin isoform X3

    UniProtKB/TrEMBL
    Q6NUQ2
    Conserved Domains (1) summary
    pfam00307
    Location:33 → 134
    CH; Calponin homology (CH) domain

  4. XM_047431774.1 → XP_047287730.1  calmin isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    89412156..89550109 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376718.1 → XP_054232693.1  calmin isoform X1

  2. XM_054376719.1 → XP_054232694.1  calmin isoform X2

  3. XM_054376721.1 → XP_054232696.1  calmin isoform X3

  4. XM_054376722.1 → XP_054232697.1  calmin isoform X4

  5. XM_054376720.1 → XP_054232695.1  calmin isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96JQ2.1 GenPept UniProtKB/Swiss-Prot:Q96JQ2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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