BBC Russian

TMEM216

Identifiers

TMEM216, HSPC244, transmembrane protein 216

External IDs

OMIM: 613277 MGI: 1920020 HomoloGene: 9541 GeneCards: TMEM216

Gene location (Human)

Chr.	Chromosome 11 (human)^[1]

Band	11q12.2	Start	61,392,393 bp^[1]
Band	11q12.2	End	61,398,866 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 19 (mouse)^[2]

Band	19\|19 A	Start	10,511,229 bp^[2]
Band	19\|19 A	End	10,533,602 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

anterior pituitary

right uterine tube

oocyte

secondary oocyte

canal of the cervix

body of pancreas

left uterine tube

islet of Langerhans

pancreatic ductal cell

bronchial epithelial cell

Top expressed in

neural tube

otic placode

proximal tubule

white adipose tissue

secondary oocyte

brown adipose tissue

olfactory epithelium

lens

saccule

adrenal gland

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	protein binding
Cellular component	cytoplasm integral component of membrane cytosol cell projection MKS complex cilium ciliary transition zone cytoskeleton membrane
Biological process	cell projection organization cilium assembly ciliary basal body-plasma membrane docking non-motile cilium assembly
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


51259


68642

Ensembl


ENSG00000187049


ENSMUSG00000024667

UniProt


Q9P0N5


Q9CQC4

RefSeq (mRNA)


NM_001173990 NM_001173991 NM_016499 NM_001330285


NM_001277860 NM_001277861 NM_026798

RefSeq (protein)


NP_001167461 NP_001167462 NP_001317214 NP_057583


NP_001264789 NP_001264790 NP_081074

Location (UCSC)

Chr 11: 61.39 – 61.4 Mb

Chr 19: 10.51 – 10.53 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.^[5]

Clinical significance

Mutations in this gene may be associated with Meckel syndrome or Joubert syndrome.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000187049 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024667 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: transmembrane protein 216".
^ Wang A (September 2010). "TMEM216 joins its ciliary cousins in ciliopathies". Clin Genet. 79 (1): 45–7. doi:10.1111/j.1399-0004.2010.01556_2.x. PMID 21029074. S2CID 948228.

Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
Valente EM, Salpietro DC, Brancati F, et al. (2003). "Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation". Am. J. Hum. Genet. 73 (3): 663–70. doi:10.1086/378241. PMC 1180692. PMID 12908130.
Edvardson S, Shaag A, Zenvirt S, et al. (2010). "Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation". Am. J. Hum. Genet. 86 (1): 93–7. doi:10.1016/j.ajhg.2009.12.007. PMC 2801745. PMID 20036350.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Roume J, Genin E, Cormier-Daire V, et al. (1998). "A gene for Meckel syndrome maps to chromosome 11q13". Am. J. Hum. Genet. 63 (4): 1095–101. doi:10.1086/302062. PMC 1377494. PMID 9758620.
Keeler LC, Marsh SE, Leeflang EP, et al. (2003). "Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3". Am. J. Hum. Genet. 73 (3): 656–62. doi:10.1086/378206. PMC 1180691. PMID 12917796.
Valente EM, Logan CV, Mougou-Zerelli S, et al. (2010). "Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes". Nat. Genet. 42 (7): 619–25. doi:10.1038/ng.594. PMC 2894012. PMID 20512146.
Hillier LD, Lennon G, Becker M, et al. (1996). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
Zhang QH, Ye M, Wu XY, et al. (2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 4 March 2023, at 00:53

TMEM216

From Wikipedia, the free encyclopedia

Clinical significance

See also

References

Further reading