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TMEM240 transmembrane protein 240 [ Homo sapiens (human) ]

Gene ID: 339453, updated on 10-Dec-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
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Genomic context

See TMEM240 in Genome Data Viewer
Location:
1p36.33
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1534778..1540624, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (969282..975128, complement)
RS_2024_09 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
 
located_in cerebellar climbing fiber to Purkinje cell synapse IEA
Inferred from Electronic Annotation
more info
 
located_in parallel fiber to Purkinje cell synapse IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic density membrane 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)

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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.

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_2024_08

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)