TMEM216 transmembrane protein 216 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:25018
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]
Annotation information: Annotation category: suggests misassembly
Expression: Ubiquitous expression in ovary (RPKM 7.5), testis (RPKM 4.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (61392587..61398846)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (61381482..61387743)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (61160059..61166318)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region
Title: Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Data show that a single G218T mutation (R73L in the protein) was identified in all cases of Ashkenazi Jewish descent.
Title: Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
a TMEM216 mutation may have a role in Joubert syndrome 2 (JBTS2) in Ashkenazi Jews
Title: Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Joubert syndrome 2 MedGen: C1842577 OMIM: 608091 GeneReviews: Joubert Syndrome	Compare labs
Meckel syndrome, type 2 MedGen: C1864148 OMIM: 603194 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2319E (e-PCR)
- UniSTS:41268

A006Z26 (e-PCR)
- UniSTS:33622

WI-22101 (e-PCR)
- UniSTS:58202

RH12213 (e-PCR)
- UniSTS:58203

A004X06 (e-PCR)
- UniSTS:58998

D11S1313 (e-PCR)
- UniSTS:35522

D11S906 (e-PCR), detects polymorphism
- UniSTS:14062

D11S911 (e-PCR)
- UniSTS:40182

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

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
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 membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transmembrane protein 216

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.