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TMEM240 transmembrane protein 240 [ Homo sapiens (human) ]

Gene ID: 339453, updated on 23-May-2018

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; Vega:OTTHUMG00000042193
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

Genomic context

See TMEM240 in Genome Data Viewer
Location:
1p36.33
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (1534778..1540360, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1470158..1475740, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATPase family, AAA domain containing 3B Neighboring gene ATPase family, AAA domain containing 3A Neighboring gene SSU72 homolog, RNA polymerase II CTD phosphatase Neighboring gene uncharacterized LOC105378586 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
synaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    5001..10583
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001114748.1NP_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
    Q5SV17
    Related
    ENSP00000368007.4, OTTHUMP00000039180, ENST00000378733.8, OTTHUMT00000100391
    Conserved Domains (1) summary
    pfam15207
    Location:1173
    TMEM240; TMEM240 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    1534778..1540360 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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