Tmem216 MGI Mouse Gene Detail - MGI:1920020

Symbol

Tmem216
Name

transmembrane protein 216
Synonyms

1110017C22Rik, 2810441K11Rik, 4921533J23Rik, A930021F15Rik

Feature Type

protein coding gene
IDs

MGI:1920020
NCBI Gene: 68642
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr19:10516690-10533663 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 6.60 cM
Mapping Data

2 experiments

SNPs within 2kb

440 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1920020	protein coding gene	Chr19:10511229-10533663 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024848	protein coding gene	Chr19:7881035-7902865 (-)
A/J	MGP_AJ_G0024816	protein coding gene	Chr19:7342769-7365478 (-)
AKR/J	MGP_AKRJ_G0024791	protein coding gene	Chr19:7633064-7655461 (-)
BALB/cJ	MGP_BALBcJ_G0024816	protein coding gene	Chr19:7386904-7409852 (-)
C3H/HeJ	MGP_C3HHeJ_G0024582	protein coding gene	Chr19:7518641-7540502 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025264	protein coding gene	Chr19:8237419-8261497 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022691	protein coding gene	Chr19:7761566-7785519 (-)
CAST/EiJ	MGP_CASTEiJ_G0024055	protein coding gene	Chr19:7172207-7195512 (-)
CBA/J	MGP_CBAJ_G0024556	protein coding gene	Chr19:8282768-8305278 (-)
DBA/2J	MGP_DBA2J_G0024683	protein coding gene	Chr19:7354409-7377367 (-)
FVB/NJ	MGP_FVBNJ_G0024650	protein coding gene	Chr19:7397939-7421520 (-)
LP/J	MGP_LPJ_G0024770	protein coding gene	Chr19:7844342-7867927 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024677	protein coding gene	Chr19:8173270-8209421 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025312	protein coding gene	Chr19:7651837-7675502 (-)
PWK/PhJ	MGP_PWKPhJ_G0023800	protein coding gene	Chr19:6796829-6820044 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023605	protein coding gene	Chr19:6831267-6855487 (-)
WSB/EiJ	MGP_WSBEiJ_G0024117	protein coding gene	Chr19:7533224-7557217 (-)

Human Ortholog

TMEM216, transmembrane protein 216

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TMEM216, transmembrane protein 216
Synonyms

HSPC244, RP98
Links

HGNC:25018

NCBI Gene ID: 51259

neXtProt AC: NX_Q9P0N5

UniProt: Q9P0N5
Chr Location

11q12.2; chr11:61392393-61398866 (+) GRCh38

MGI Vertebrate Homology

Tmem216 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TMEM216
Gene Tree

Tmem216

Diseases

3 with human TMEM216 associations

				Human Disease	Mouse Models
				Joubert syndrome IDs Joubert syndrome DOID:0050777 ICD10CM:Q04.3 OMIM:PS213300 ORDO:475
				Joubert syndrome 2 IDs Joubert syndrome 2 DOID:0110988 MESH:C536294 OMIM:608091
				Meckel syndrome 2 IDs Meckel syndrome 2 DOID:0070116 ICD10CM:Q61.9 OMIM:603194

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

15 phenotypes from 1 allele in 1 genetic background
8 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Endonuclease-mediated

4
Gene trapped

1
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

13 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele display postnatal lethality with multiple abnormalities arising from ciliary defects.

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All GO Annotations

12
GO References

6

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

719
Tissues

4
cDNA Data

40
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tmem216

ZFIN tmem216

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All Sequences

56
RefSeq

12
UniProt

1
CCDS

CCDS37913.1, CCDS70934.1

Ensembl

ENSMUSG00000024667 (Evidence)
NCBI Gene

68642

			Length	Strain/Species	Flank
genomic	68642	NCBI Gene Model \| MGI Sequence Detail	16974	C57BL/6J	± kb
transcript	NM_026798	RefSeq \| MGI Sequence Detail	1101	C57BL/6
polypeptide	Q9CQC4	UniProt \| EBI \| MGI Sequence Detail	141	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000030393 transmembrane protein 216

(term hierarchy)
InterPro Domains

IPR019184 Uncharacterised protein family, transmembrane-17

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All nucleic 44

cDNA 43

Primer pair 1

Microarray probesets 4

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MGI:1915892, MGI:1918182, MGI:1924512, MGI:2147568

Summaries

All 35

Developmental Gene Expression 1

Gene Ontology 6

Phenotypes 8
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:345410 Wang Y, et al., TMEM216 promotes primary ciliogenesis and Hedgehog signaling through the SUFU-GLI2/GLI3 axis. Sci Signal. 2024 Jan 23;17(820):eabo0465

TSS for Tmem216:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr158194	Chr19:10533562-10533639 (-)	62 bp
Tssr158193	Chr19:10533172-10533178 (-)	488 bp
Tssr5444	Chr19:10533126-10533146 (-)	527 bp
Tssr158192	Chr19:10533088-10533125 (-)	556 bp
Tssr158191	Chr19:10532154-10532198 (-)	1,487 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24