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    TMEM216 transmembrane protein 216 [ Homo sapiens (human) ]

    Gene ID: 51259, updated on 8-Jul-2021

    Summary

    Official Symbol
    TMEM216provided by HGNC
    Official Full Name
    transmembrane protein 216provided by HGNC
    Primary source
    HGNC:HGNC:25018
    See related
    Ensembl:ENSG00000187049 MIM:613277
    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
    HSPC244
    Summary
    This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
    Expression
    Ubiquitous expression in ovary (RPKM 7.5), testis (RPKM 4.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TMEM216 in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (61392587..61398846)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61160059..61166318)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene triokinase and FMN cyclase Neighboring gene cytochrome b561 family member A3 Neighboring gene transmembrane protein 138 Neighboring gene cleavage and polyadenylation specific factor 7 Neighboring gene succinate dehydrogenase complex assembly factor 2 Neighboring gene RNA, 7SL, cytoplasmic 23, pseudogene

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC13379

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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_032976.1 RefSeqGene

      Range
      5228..11488
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_698

    mRNA and Protein(s)

    1. NM_001173990.3NP_001167461.1  transmembrane protein 216 isoform 2

      See identical proteins and their annotated locations for NP_001167461.1

      Status: REVIEWED

      Source sequence(s)
      AA022661, AK303687, AP003108
      Consensus CDS
      CCDS53640.1
      UniProtKB/Swiss-Prot
      Q9P0N5
      Related
      ENSP00000440638.1, ENST00000515837.7
      Conserved Domains (1) summary
      pfam09799
      Location:25128
      Transmemb_17; Predicted membrane protein
    2. NM_001173991.3NP_001167462.1  transmembrane protein 216 isoform 3

      See identical proteins and their annotated locations for NP_001167462.1

      Status: REVIEWED

      Source sequence(s)
      AA022661, AK303687, AP003108, DN998400
      Consensus CDS
      CCDS86205.1
      UniProtKB/Swiss-Prot
      Q9P0N5
      Related
      ENSP00000334844.5, ENST00000334888.9
      Conserved Domains (1) summary
      pfam09799
      Location:25128
      Transmemb_17; Predicted membrane protein
    3. NM_001330285.2NP_001317214.1  transmembrane protein 216 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP003108, KU159424
      Consensus CDS
      CCDS81570.1
      UniProtKB/Swiss-Prot
      Q9P0N5
      UniProtKB/TrEMBL
      J3QT25
      Related
      ENSP00000381950.3, ENST00000398979.7
      Conserved Domains (1) summary
      pfam09799
      Location:167
      Transmemb_17; Predicted membrane protein
    4. NM_016499.6NP_057583.2  transmembrane protein 216 isoform 1

      See identical proteins and their annotated locations for NP_057583.2

      Status: REVIEWED

      Source sequence(s)
      AA022661, AP003108, BC011010, BG759319
      UniProtKB/Swiss-Prot
      Q9P0N5
      Conserved Domains (1) summary
      pfam09799
      Location:167
      Transmemb_17; Predicted membrane protein

    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_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      61392587..61398846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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