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    TMEM216 transmembrane protein 216 [ Homo sapiens (human) ]

    Gene ID: 51259, updated on 5-Jul-2015
    Official Symbol
    TMEM216provided by HGNC
    Official Full Name
    transmembrane protein 216provided by HGNC
    Primary source
    HGNC:HGNC:25018
    See related
    Ensembl:ENSG00000187049; HPRD:14439; 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]
    Orthologs
    See TMEM216 in Epigenomics, MapViewer
    Location:
    11q13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (61391687..61398863)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61159832..61166335)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene damage-specific DNA binding protein 1, 127kDa Neighboring gene triokinase/FMN cyclase Neighboring gene cytochrome b561 family, member A3 Neighboring gene transmembrane protein 138 Neighboring gene cleavage and polyadenylation specific factor 7, 59kDa Neighboring gene succinate dehydrogenase complex assembly factor 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC13379

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cilium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    organelle organization TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    TCTN-B9D complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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
      5001..11505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001167461.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and initiates translation at an upstream start codon compared to variant 1. This variant also uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) has a longer N-terminus and lacks a short segment in the C-terminus, compared to isoform 1.
      Source sequence(s)
      AA022661, AK303687, AP003108
      Consensus CDS
      CCDS53640.1
      UniProtKB/Swiss-Prot
      Q9P0N5
      Related
      ENSP00000334844, ENST00000334888
      Conserved Domains (1) summary
      pfam09799
      Location:22127
      Transmemb_17; Predicted membrane protein
    2. NM_001173991.2NP_001167462.1  transmembrane protein 216 isoform 3

      See identical proteins and their annotated locations for NP_001167462.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site and initiates translation at an upstream start codon, compared to variant 1. The resulting isoform (3) has a longer N-terminus, compared to isoform 1.
      Source sequence(s)
      AA022661, AK303687, AP003108, DN998400
      UniProtKB/Swiss-Prot
      Q9P0N5
      Conserved Domains (1) summary
      pfam09799
      Location:22127
      Transmemb_17; Predicted membrane protein
    3. NM_016499.5NP_057583.2  transmembrane protein 216 isoform 1

      See identical proteins and their annotated locations for NP_057583.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (1).
      Source sequence(s)
      AA022661, AP003108, BC011010, BG759319
      UniProtKB/Swiss-Prot
      Q9P0N5
      Conserved Domains (1) summary
      pfam09799
      Location:266
      Transmemb_17; Predicted membrane protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      61391687..61398863
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274039.3XP_005274096.1  

      See identical proteins and their annotated locations for XP_005274096.1

      UniProtKB/Swiss-Prot
      Q9P0N5
      Conserved Domains (1) summary
      pfam09799
      Location:266
      Transmemb_17; Predicted membrane protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      61042833..61049337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)