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TMEM250 transmembrane protein 250 [ Homo sapiens (human) ]

Gene ID: 90120, updated on 4-Jul-2021

Summary

Official Symbol
TMEM250provided by HGNC
Official Full Name
transmembrane protein 250provided by HGNC
Primary source
HGNC:HGNC:31009
See related
Ensembl:ENSG00000238227
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
C9orf69
Expression
Ubiquitous expression in colon (RPKM 10.3), skin (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

See TMEM250 in Genome Data Viewer
Location:
9q34.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (136114581..136118875, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139006435..139010721, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376322 Neighboring gene NACC family member 2 Neighboring gene long intergenic non-protein coding RNA 2846 Neighboring gene uncharacterized LOC107987142 Neighboring gene LIM homeobox 3 Neighboring gene quiescin sulfhydryl oxidase 2

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of viral process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in cell division site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of septin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in septin ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
transmembrane protein 250
Names
herpes virus UL25-binding protein
protein C9orf69

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_001256526.2NP_001243455.1  transmembrane protein 250

    See identical proteins and their annotated locations for NP_001243455.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL138781
    Consensus CDS
    CCDS59155.1
    UniProtKB/Swiss-Prot
    H0YL14
    Related
    ENSP00000452750.2, ENST00000561457.2
    Conserved Domains (1) summary
    pfam17685
    Location:1139
    DUF5533; Family of unknown function (DUF5533)
  2. NM_152833.3NP_690046.3  transmembrane protein 250

    See identical proteins and their annotated locations for NP_690046.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC014304, DA685158
    Consensus CDS
    CCDS59155.1
    UniProtKB/Swiss-Prot
    H0YL14
    Related
    ENSP00000453019.1, ENST00000418388.6
    Conserved Domains (1) summary
    pfam17685
    Location:1139
    DUF5533; Family of unknown function (DUF5533)

RNA

  1. NR_134506.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL138781, BC021231, BC092490, DA203953

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    136114581..136118875 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447712.1XP_024303480.1  transmembrane protein 250 isoform X1

    Conserved Domains (1) summary
    pfam17685
    Location:1139
    DUF5533; Family of unknown function (DUF5533)
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