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    TMEM240 transmembrane protein 240 [ Homo sapiens (human) ]

    Gene ID: 339453, updated on 17-Jun-2024

    Summary

    Official Symbol
    TMEM240provided by HGNC
    Official Full Name
    transmembrane protein 240provided by HGNC
    Primary source
    HGNC:HGNC:25186
    See related
    Ensembl:ENSG00000205090 MIM:616101; AllianceGenome:HGNC:25186
    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
    Also known as
    SCA21; C1orf70
    Summary
    This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]
    Expression
    Biased expression in brain (RPKM 2.8), endometrium (RPKM 1.2) and 13 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TMEM240 in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1534778..1540624, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (969282..975128, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1470158..1476004, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 75 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1409130-1409976 Neighboring gene ATPase family AAA domain containing 3B Neighboring gene MPRA-validated peak11 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1443749-1444392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1444393-1445034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 76 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 77 Neighboring gene ATPase family AAA domain containing 3A Neighboring gene Sharpr-MPRA regulatory region 185 Neighboring gene SSU72 homolog, RNA polymerase II CTD phosphatase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1505865-1506366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 78 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 79 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1511866-1512035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1512434-1512976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1529354-1530202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 80 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1534010-1534668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1534669-1535328 Neighboring gene uncharacterized LOC105378586 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1535329-1535988 Neighboring gene fibronectin type III domain containing 10

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in TMEM240-body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    transmembrane protein 240
    Names
    transmembrane protein C1orf70

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_041807.1 RefSeqGene

      Range
      4737..10583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001114748.2NP_001108220.1  transmembrane protein 240

      See identical proteins and their annotated locations for NP_001108220.1

      Status: REVIEWED

      Source sequence(s)
      AL645728, BF446167, BU929336, EG328560
      Consensus CDS
      CCDS44040.1
      UniProtKB/Swiss-Prot
      B9EJG7, Q5SV17
      Related
      ENSP00000368007.4, ENST00000378733.9
      Conserved Domains (1) summary
      pfam15207
      Location:1173
      TMEM240; TMEM240 family

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      1534778..1540624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      969282..975128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)