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TMEM216 transmembrane protein 216 [ Homo sapiens (human) ]

Gene ID: 51259, updated on 5-Aug-2018

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; Vega:OTTHUMG00000168146
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

Genomic context

See TMEM216 in Genome Data Viewer
Location:
11q12.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (61391982..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 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
MKS complex ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

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_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

    Source sequence(s)
    AA022661, AK303687, AP003108
    Consensus CDS
    CCDS53640.1
    UniProtKB/Swiss-Prot
    Q9P0N5
    Related
    ENSP00000440638.1, OTTHUMP00000238092, ENST00000515837.6, OTTHUMT00000398430
    Conserved Domains (1) summary
    pfam09799
    Location:25128
    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

    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_001330285.1NP_001317214.1  transmembrane protein 216 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK303687, 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_016499.5NP_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 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_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    61391982..61398863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274039.4XP_005274096.1  transmembrane protein 216 isoform X1

    See identical proteins and their annotated locations for XP_005274096.1

    UniProtKB/Swiss-Prot
    Q9P0N5
    Conserved Domains (1) summary
    pfam09799
    Location:167
    Transmemb_17; Predicted membrane protein
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