TMEM216
Sign in to saveAlso known as HSPC244, transmembrane protein 216
Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.
Gene data
TMEM216- Name
- transmembrane protein 216
- Type
- protein-coding
- Aliases
- HSPC244, RP98
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].
via MyGene.info
Gene · Ensembl
transmembrane protein 216
- Symbol
- TMEM216
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 11:61,392,393-61,400,408
- Strand
- Forward (+)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 9541
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/51259
- chromosome
- human chromosome 11
- genomic start
- 61392393
- genomic end
- 61398866
- cytogenetic location
- 11q12.2
- genetic association
- Joubert syndrome
- expressed in
- granulocyte
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- Clinical significance
- See also
- References
- Further reading
Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.
== Clinical significance ==
Excerpted from Wikipedia’s “TMEM216” article, available under the CC BY-SA 4.0 licence.