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    KANTR KANTR integral membrane protein [ Homo sapiens (human) ]

    Gene ID: 102723508, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KANTRprovided by HGNC
    Official Full Name
    KANTR integral membrane proteinprovided by HGNC
    Primary source
    HGNC:HGNC:49510
    See related
    Ensembl:ENSG00000232593 MIM:301019; AllianceGenome:HGNC:49510
    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
    Spasm; LINC01155
    Summary
    This gene is thought to produce a functional long non-coding RNA. Mutation of this locus in mouse causes tremors and spastic movements, suggesting a role for this gene in neurological development or function. [provided by RefSeq, Feb 2015]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See KANTR in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (53094142..53147921)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (52380378..52434199)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (53123324..53177103)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:53100667-53101168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20854 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:53122416-53123240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20855 Neighboring gene TSPY like 2 Neighboring gene RNA, U7 small nuclear 37 pseudogene Neighboring gene actin gamma 1 pseudogene 10 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:53192545-53193079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29655 Neighboring gene lysine demethylase 5C Neighboring gene microRNA 6895 Neighboring gene microRNA 6894

    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 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. High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing. Lagarde J, et al. Nat Genet, 2017 Dec. PMID 29106417, Free PMC Article
    2. Multiple knockout mouse models reveal lincRNAs are required for life and brain development. Sauvageau M, et al. Elife, 2013 Dec 31. PMID 24381249, Free PMC Article
    3. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • DKFZp313M1330

    General protein information

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    Preferred Names
    KDM5C adjacent transcript
    Names
    KDM5C adjacent non-coding transcript
    long intergenic non-protein coding RNA 1155

    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_001397448.1 → NP_001384377.1  KDM5C adjacent transcript

      Status: VALIDATED

      Source sequence(s)
      AL139396, AL591212
      Consensus CDS
      CCDS94609.1
      UniProtKB/Swiss-Prot
      A0A1W2PQU2
      Related
      ENSP00000492284.1, ENST00000604062.7

    2. NM_001397450.1 → NP_001384379.1  KDM5C adjacent transcript

      Status: VALIDATED

      Source sequence(s)
      AL139396, AL591212
      Consensus CDS
      CCDS94609.1
      UniProtKB/Swiss-Prot
      A0A1W2PQU2

    3. NM_001397451.1 → NP_001384380.1  KDM5C adjacent transcript

      Status: VALIDATED

      Source sequence(s)
      AL139396, AL591212
      Consensus CDS
      CCDS94609.1
      UniProtKB/Swiss-Prot
      A0A1W2PQU2

    4. NM_001397452.1 → NP_001384381.1  KDM5C adjacent transcript

      Status: VALIDATED

      Source sequence(s)
      AL139396, AL591212
      Consensus CDS
      CCDS94609.1
      UniProtKB/Swiss-Prot
      A0A1W2PQU2

    5. NM_001397453.1 → NP_001384382.1  KDM5C adjacent transcript

      Status: VALIDATED

      Source sequence(s)
      AL139396, AL591212
      Consensus CDS
      CCDS94609.1
      UniProtKB/Swiss-Prot
      A0A1W2PQU2

    RNA

    1. NR_110456.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL139396, AL591212

    2. NR_145973.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL139396, AL591212

    3. NR_145974.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL139396, AL591212

    4. NR_145975.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL139396, AL591212

    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

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      53094142..53147921
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      52380378..52434199
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_145976.1: Suppressed sequence

      Description
      NR_145976.1: This RefSeq was removed because it is now thought that this gene does encode a protein.

    2. NR_145977.1: Suppressed sequence

      Description
      NR_145977.1: This RefSeq was removed because it is now thought that this gene does encode a protein.

    3. NR_145978.1: Suppressed sequence

      Description
      NR_145978.1: This RefSeq was removed because it is now thought that this gene does encode a protein.

    4. NR_145979.1: Suppressed sequence

      Description
      NR_145979.1: This RefSeq was removed because it is now thought that this gene does encode a protein.

    5. NR_145980.1: Suppressed sequence

      Description
      NR_145980.1: This RefSeq was removed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version

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