Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55858
Gene name Gene Name - the full gene name approved by the HGNC.	Transmembrane protein 165
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TMEM165
Synonyms (NCBI Gene) Gene synonyms aliases	CDG2K, FT27, GDT1, SLC64A1, TMPT27, TPARL
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CDG2K
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this ge

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907221	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs793888506	G>A	Pathogenic	Intron variant
rs886037631	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs1560383746	C>T	Likely-pathogenic	5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant

Show/Hide all(108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028789	hsa-miR-26b-5p	Microarray	19088304
MIRT052436	hsa-let-7a-5p	CLASH	23622248
MIRT051768	hsa-let-7c-5p	CLASH	23622248
MIRT050801	hsa-miR-17-5p	CLASH	23622248
MIRT039158	hsa-miR-769-5p	CLASH	23622248
MIRT1432062	hsa-miR-101	CLIP-seq
MIRT1432063	hsa-miR-1227	CLIP-seq
MIRT1432064	hsa-miR-1283	CLIP-seq
MIRT1432065	hsa-miR-1298	CLIP-seq
MIRT1432066	hsa-miR-1324	CLIP-seq
MIRT1432067	hsa-miR-144	CLIP-seq
MIRT1432068	hsa-miR-148a	CLIP-seq
MIRT1432069	hsa-miR-148b	CLIP-seq
MIRT1432070	hsa-miR-152	CLIP-seq
MIRT1432071	hsa-miR-2054	CLIP-seq
MIRT1432072	hsa-miR-221	CLIP-seq
MIRT1432073	hsa-miR-222	CLIP-seq
MIRT1432074	hsa-miR-2355-5p	CLIP-seq
MIRT1432075	hsa-miR-30a	CLIP-seq
MIRT1432076	hsa-miR-30b	CLIP-seq
MIRT1432077	hsa-miR-30c	CLIP-seq
MIRT1432078	hsa-miR-30d	CLIP-seq
MIRT1432079	hsa-miR-30e	CLIP-seq
MIRT1432080	hsa-miR-3120-3p	CLIP-seq
MIRT1432081	hsa-miR-3124-3p	CLIP-seq
MIRT1432082	hsa-miR-3166	CLIP-seq
MIRT1432083	hsa-miR-3661	CLIP-seq
MIRT1432084	hsa-miR-3679-3p	CLIP-seq
MIRT1432085	hsa-miR-3942-5p	CLIP-seq
MIRT1432086	hsa-miR-410	CLIP-seq
MIRT1432087	hsa-miR-4277	CLIP-seq
MIRT1432088	hsa-miR-4477b	CLIP-seq
MIRT1432089	hsa-miR-4659a-5p	CLIP-seq
MIRT1432090	hsa-miR-4659b-5p	CLIP-seq
MIRT1432091	hsa-miR-4703-5p	CLIP-seq
MIRT1432092	hsa-miR-4704-5p	CLIP-seq
MIRT1432093	hsa-miR-4716-5p	CLIP-seq
MIRT1432094	hsa-miR-4719	CLIP-seq
MIRT1432095	hsa-miR-4760-3p	CLIP-seq
MIRT1432096	hsa-miR-487a	CLIP-seq
MIRT1432097	hsa-miR-548ae	CLIP-seq
MIRT1432098	hsa-miR-548ag	CLIP-seq
MIRT1432099	hsa-miR-548ai	CLIP-seq
MIRT1432100	hsa-miR-548aj	CLIP-seq
MIRT1432101	hsa-miR-548am	CLIP-seq
MIRT1432102	hsa-miR-548v	CLIP-seq
MIRT1432103	hsa-miR-548x	CLIP-seq
MIRT1432104	hsa-miR-578	CLIP-seq
MIRT1432105	hsa-miR-587	CLIP-seq
MIRT1432106	hsa-miR-631	CLIP-seq
MIRT1432107	hsa-miR-664	CLIP-seq
MIRT1432068	hsa-miR-148a	CLIP-seq
MIRT1432069	hsa-miR-148b	CLIP-seq
MIRT1432070	hsa-miR-152	CLIP-seq
MIRT1554893	hsa-miR-3647-3p	CLIP-seq
MIRT1554894	hsa-miR-3936	CLIP-seq
MIRT1554895	hsa-miR-4697-3p	CLIP-seq
MIRT1554896	hsa-miR-4766-5p	CLIP-seq
MIRT1554897	hsa-miR-512-3p	CLIP-seq
MIRT1432065	hsa-miR-1298	CLIP-seq
MIRT2129515	hsa-miR-200b	CLIP-seq
MIRT2129516	hsa-miR-200c	CLIP-seq
MIRT1432071	hsa-miR-2054	CLIP-seq
MIRT1432074	hsa-miR-2355-5p	CLIP-seq
MIRT1432081	hsa-miR-3124-3p	CLIP-seq
MIRT2129517	hsa-miR-3529	CLIP-seq
MIRT1432084	hsa-miR-3679-3p	CLIP-seq
MIRT2129518	hsa-miR-3692	CLIP-seq
MIRT2129519	hsa-miR-369-3p	CLIP-seq
MIRT2129520	hsa-miR-379	CLIP-seq
MIRT2129521	hsa-miR-4286	CLIP-seq
MIRT2129522	hsa-miR-429	CLIP-seq
MIRT2129523	hsa-miR-4451	CLIP-seq
MIRT2129524	hsa-miR-4650-3p	CLIP-seq
MIRT1432092	hsa-miR-4704-5p	CLIP-seq
MIRT1432095	hsa-miR-4760-3p	CLIP-seq
MIRT1432107	hsa-miR-664	CLIP-seq
MIRT1432062	hsa-miR-101	CLIP-seq
MIRT1432064	hsa-miR-1283	CLIP-seq
MIRT1432066	hsa-miR-1324	CLIP-seq
MIRT1432067	hsa-miR-144	CLIP-seq
MIRT1432068	hsa-miR-148a	CLIP-seq
MIRT1432069	hsa-miR-148b	CLIP-seq
MIRT1432070	hsa-miR-152	CLIP-seq
MIRT1432071	hsa-miR-2054	CLIP-seq
MIRT1432072	hsa-miR-221	CLIP-seq
MIRT1432073	hsa-miR-222	CLIP-seq
MIRT2129518	hsa-miR-3692	CLIP-seq
MIRT2351098	hsa-miR-4330	CLIP-seq
MIRT2351099	hsa-miR-4506	CLIP-seq
MIRT1432092	hsa-miR-4704-5p	CLIP-seq
MIRT2351100	hsa-miR-4775	CLIP-seq
MIRT1432102	hsa-miR-548v	CLIP-seq
MIRT1432062	hsa-miR-101	CLIP-seq
MIRT1432067	hsa-miR-144	CLIP-seq
MIRT1432062	hsa-miR-101	CLIP-seq
MIRT1432064	hsa-miR-1283	CLIP-seq
MIRT1432067	hsa-miR-144	CLIP-seq
MIRT1432068	hsa-miR-148a	CLIP-seq
MIRT1432069	hsa-miR-148b	CLIP-seq
MIRT1432070	hsa-miR-152	CLIP-seq
MIRT1432072	hsa-miR-221	CLIP-seq
MIRT1432073	hsa-miR-222	CLIP-seq
MIRT1432094	hsa-miR-4719	CLIP-seq
MIRT1432102	hsa-miR-548v	CLIP-seq
MIRT1432105	hsa-miR-587	CLIP-seq
MIRT1432071	hsa-miR-2054	CLIP-seq
MIRT1432105	hsa-miR-587	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005384	Function	Manganese ion transmembrane transporter activity	IBA	21873635
GO:0005765	Component	Lysosomal membrane	IDA	23575229
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	22683087
GO:0006487	Process	Protein N-linked glycosylation	IMP	22683087
GO:0006874	Process	Cellular calcium ion homeostasis	IGI	23569283
GO:0010008	Component	Endosome membrane	IDA	23575229
GO:0015085	Function	Calcium ion transmembrane transporter activity	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0032468	Process	Golgi calcium ion homeostasis	IBA	21873635
GO:0032472	Process	Golgi calcium ion transport	IBA	21873635
GO:0032472	Process	Golgi calcium ion transport	IDA	23569283
GO:0032588	Component	Trans-Golgi network membrane	IDA	23575229
GO:0035751	Process	Regulation of lysosomal lumen pH	IMP	23569283
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0046873	Function	Metal ion transmembrane transporter activity	IBA	21873635
GO:0070588	Process	Calcium ion transmembrane transport	IBA	21873635
GO:0071421	Process	Manganese ion transmembrane transport	IBA	21873635

MIM	HGNC	e!Ensembl
614726	30760	ENSG00000134851

Protein

UniProt ID

Q9HC07

Protein name

Putative divalent cation/proton antiporter TMEM165 (Transmembrane protein 165) (Transmembrane protein PT27) (Transmembrane protein TPARL)

Protein function

Putative divalent cation:proton antiporter that exchanges calcium or manganese ions for protons across the Golgi membrane. Mediates the reversible transport of calcium or manganese to the Golgi lumen driven by the proton gradient and possibly th

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01169	UPF0016	98 → 171	Uncharacterized protein family UPF0016	Family
PF01169	UPF0016	238 → 312	Uncharacterized protein family UPF0016	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:22683087}.

Sequence

MAAAAPGNGRASAPRLLLLFLVPLLWAPAAVRAGPDEDLSHRNKEPPAPAQQLQPQPVAV
QGPEPARVEKIFTPAAPVHTNKEDPATQTNLGFIHAFVAAISVIIVSELGDKTFFIAAIM
AMRYNRLTVLAGAMLALGLMTCLSVLFGYATTVIPRVYTYYVSTVLFAIFGIRMLREGLK
MSPDEGQEELEEVQAELKKKDEEFQRTKLLNGPGDVETGTSITVPQKKWLHFISPIFVQA
LTLTFLAEWGDRSQLTTIVLAAREDPYGVAVGGTVGHCLCTGLAVIGGRMIAQKISVRTV
TIIGGIVFLAFAFSALFISPDSGF

Sequence length

324

Interactions

View interactions

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Amelogenesis imperfecta	Amelogenesis Imperfecta	rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489 View all (70 more)	22683087
Congenital disorder of glycosylation	Carbohydrate deficient glycoprotein syndrome type 2k, TMEM165-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406 View all (80 more)	27604308, 22683087, 23575229, 23430531
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diaphyseal dysplasia	Camurati-Engelmann Syndrome, Diaphyseal dysplasia	rs104894719, rs104894720, rs104894721, rs111033611, rs104894722, rs1599893542
Epiphyseal dysplasia	Epiphyseal dysplasia	rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Pyle metaphyseal dysplasia	Pyle metaphyseal dysplasia	rs879255603, rs755007671, rs879253778

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Coronary artery disease	Coronary artery disease			GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
Attention Deficit Disorder with Hyperactivity	Associate	30696097
Bipolar Disorder	Associate	18228528
Carcinoma Hepatocellular	Stimulate	30015898
Congenital disorder of glycosylation type II	Associate	22683087, 30307768
Congenital Disorders of Glycosylation	Associate	22683087, 27008884, 28323990, 30015898, 31415112
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	31351090
Endocrine System Diseases	Associate	28323990
Immunologic Deficiency Syndromes	Inhibit	22683087
Metabolic Diseases	Associate	30015898
Neoplasm Invasiveness	Associate	30015898
Neoplasms	Associate	30015898
Pyle disease	Associate	22683087
Signs and Symptoms Digestive	Associate	38013006

TMEM165 (transmembrane protein 165)