Gene

tmem216

ID

ZDB-GENE-100818-1

Name

transmembrane protein 216

Symbol

tmem216 Nomenclature History

Previous Names

si:rp71-1d10.5

Type

protein_coding_gene

Location

Chr: 14 Mapping Details/Browsers

Description

Involved in cilium assembly. Acts upstream of or within convergent extension involved in gastrulation and photoreceptor cell outer segment organization. Predicted to be located in several cellular components, including cell projection; cytoplasm; and cytoskeleton. Predicted to be active in ciliary transition zone. Is expressed in brain; eye; liver; muscle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Joubert syndrome; Joubert syndrome 2; and Meckel syndrome 2. Orthologous to human TMEM216 (transmembrane protein 216).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Liu et al., 2020

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 14 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With tmem216 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Joubert syndrome 2	Alliance	Joubert syndrome 2	608091
Meckel syndrome 2	Alliance	Meckel syndrome 2	603194
		Retinitis pigmentosa 98	620996

Associated With tmem216 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR019184	Uncharacterised protein family, transmembrane-17

Domain Details Per Protein

Protein	Length	Uncharacterised protein family, transmembrane-17
UniProtKB:E7EYQ9 InterPro
UniProtKB:A0A8M1P9Z5 InterPro	143

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	si:rp71-1d10.5-201 (1) Ensembl	Ensembl	710 nt	Select Tool ZFIN BLAST
mRNA	tmem216-201 (1) Ensembl	Ensembl	710 nt	Select Tool ZFIN BLAST
mRNA	tmem216-202 (1) Ensembl	Ensembl	860 nt	Select Tool ZFIN BLAST
mRNA	tmem216-203 (1) Ensembl	Ensembl	617 nt	Select Tool ZFIN BLAST
ncRNA	tmem216-204 (1) Ensembl	Ensembl	672 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations