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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79853
Gene name	Transmembrane 4 L six family member 20
Gene symbol	TM4SF20
Synonyms (NCBI Gene)	PRO994SLI5TCCE518
Chromosome	2
Chromosome location	2q36.3
Summary	The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain

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Show/Hide all (186)

miRTarBase ID	miRNA	Experiments	Reference
MIRT648229	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT648228	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT648227	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT648226	hsa-miR-5193	HITS-CLIP	23824327
MIRT648225	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT648224	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT648223	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT648222	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT648221	hsa-miR-623	HITS-CLIP	23824327
MIRT648220	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT648219	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT648218	hsa-miR-4279	HITS-CLIP	23824327
MIRT648217	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT648216	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT648214	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT648215	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT648213	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT648212	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT614417	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT614416	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT614415	hsa-miR-6838-3p	HITS-CLIP	23824327
MIRT614414	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT614413	hsa-miR-486-5p	HITS-CLIP	23824327
MIRT641268	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT641267	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT641266	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT614412	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT614411	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT614410	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT614417	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT614416	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT614415	hsa-miR-6838-3p	HITS-CLIP	23824327
MIRT614414	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT614413	hsa-miR-486-5p	HITS-CLIP	23824327
MIRT614412	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT614411	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT614410	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT648229	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT648228	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT648227	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT648226	hsa-miR-5193	HITS-CLIP	23824327
MIRT648225	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT648224	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT648223	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT648222	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT648221	hsa-miR-623	HITS-CLIP	23824327
MIRT648220	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT648219	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT648218	hsa-miR-4279	HITS-CLIP	23824327
MIRT648217	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT648216	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT648214	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT648215	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT648213	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT648212	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT614417	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT614416	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT614415	hsa-miR-6838-3p	HITS-CLIP	23824327
MIRT614414	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT614413	hsa-miR-486-5p	HITS-CLIP	23824327
MIRT641268	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT641267	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT641266	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT614412	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT614411	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT614410	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT614417	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT614416	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT614415	hsa-miR-6838-3p	HITS-CLIP	23824327
MIRT614414	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT614413	hsa-miR-486-5p	HITS-CLIP	23824327
MIRT614412	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT614411	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT614410	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1427262	hsa-miR-1183	CLIP-seq
MIRT1427263	hsa-miR-1225-3p	CLIP-seq
MIRT1427264	hsa-miR-1233	CLIP-seq
MIRT1427265	hsa-miR-1304	CLIP-seq
MIRT1427266	hsa-miR-1827	CLIP-seq
MIRT1427267	hsa-miR-219-1-3p	CLIP-seq
MIRT1427268	hsa-miR-2276	CLIP-seq
MIRT1427269	hsa-miR-2467-5p	CLIP-seq
MIRT1427270	hsa-miR-3145-5p	CLIP-seq
MIRT1427271	hsa-miR-3188	CLIP-seq
MIRT1427272	hsa-miR-320e	CLIP-seq
MIRT1427273	hsa-miR-3607-5p	CLIP-seq
MIRT1427274	hsa-miR-3614-5p	CLIP-seq
MIRT1427275	hsa-miR-3622a-3p	CLIP-seq
MIRT1427276	hsa-miR-3622b-3p	CLIP-seq
MIRT1427277	hsa-miR-3929	CLIP-seq
MIRT1427278	hsa-miR-3934	CLIP-seq
MIRT1427279	hsa-miR-3973	CLIP-seq
MIRT1427280	hsa-miR-3975	CLIP-seq
MIRT1427281	hsa-miR-4251	CLIP-seq
MIRT1427282	hsa-miR-4255	CLIP-seq
MIRT1427283	hsa-miR-4266	CLIP-seq
MIRT1427284	hsa-miR-4282	CLIP-seq
MIRT1427285	hsa-miR-4419b	CLIP-seq
MIRT1427286	hsa-miR-4459	CLIP-seq
MIRT1427287	hsa-miR-4478	CLIP-seq
MIRT1427288	hsa-miR-4514	CLIP-seq
MIRT1427289	hsa-miR-4649-3p	CLIP-seq
MIRT1427290	hsa-miR-4692	CLIP-seq
MIRT1427291	hsa-miR-4695-5p	CLIP-seq
MIRT1427292	hsa-miR-4698	CLIP-seq
MIRT1427293	hsa-miR-4712-3p	CLIP-seq
MIRT1427294	hsa-miR-4779	CLIP-seq
MIRT1427295	hsa-miR-485-5p	CLIP-seq
MIRT1427296	hsa-miR-508-5p	CLIP-seq
MIRT1427297	hsa-miR-520g	CLIP-seq
MIRT1427298	hsa-miR-520h	CLIP-seq
MIRT1427299	hsa-miR-571	CLIP-seq
MIRT1427300	hsa-miR-580	CLIP-seq
MIRT1427301	hsa-miR-595	CLIP-seq
MIRT1427302	hsa-miR-627	CLIP-seq
MIRT1427303	hsa-miR-651	CLIP-seq
MIRT1427304	hsa-miR-665	CLIP-seq
MIRT1427305	hsa-miR-670	CLIP-seq
MIRT1427306	hsa-miR-766	CLIP-seq
MIRT1427307	hsa-miR-940	CLIP-seq
MIRT2127977	hsa-miR-3682-5p	CLIP-seq
MIRT2127978	hsa-miR-371-5p	CLIP-seq
MIRT2127979	hsa-miR-4760-3p	CLIP-seq
MIRT2127980	hsa-miR-513c	CLIP-seq
MIRT2127981	hsa-miR-514b-5p	CLIP-seq
MIRT1427265	hsa-miR-1304	CLIP-seq
MIRT2349645	hsa-miR-1321	CLIP-seq
MIRT1427266	hsa-miR-1827	CLIP-seq
MIRT2349646	hsa-miR-2114	CLIP-seq
MIRT1427269	hsa-miR-2467-5p	CLIP-seq
MIRT2349647	hsa-miR-3162-5p	CLIP-seq
MIRT1427271	hsa-miR-3188	CLIP-seq
MIRT1427272	hsa-miR-320e	CLIP-seq
MIRT1427274	hsa-miR-3614-5p	CLIP-seq
MIRT1427277	hsa-miR-3929	CLIP-seq
MIRT1427280	hsa-miR-3975	CLIP-seq
MIRT1427283	hsa-miR-4266	CLIP-seq
MIRT1427285	hsa-miR-4419b	CLIP-seq
MIRT1427287	hsa-miR-4478	CLIP-seq
MIRT1427288	hsa-miR-4514	CLIP-seq
MIRT1427289	hsa-miR-4649-3p	CLIP-seq
MIRT1427290	hsa-miR-4692	CLIP-seq
MIRT1427291	hsa-miR-4695-5p	CLIP-seq
MIRT2349648	hsa-miR-4739	CLIP-seq
MIRT2349649	hsa-miR-4756-5p	CLIP-seq
MIRT1427294	hsa-miR-4779	CLIP-seq
MIRT1427295	hsa-miR-485-5p	CLIP-seq
MIRT2349650	hsa-miR-564	CLIP-seq
MIRT1427303	hsa-miR-651	CLIP-seq
MIRT1427307	hsa-miR-940	CLIP-seq
MIRT2461526	hsa-miR-10a	CLIP-seq
MIRT2461527	hsa-miR-10b	CLIP-seq
MIRT2461528	hsa-miR-3148	CLIP-seq
MIRT2461529	hsa-miR-339-5p	CLIP-seq
MIRT2461530	hsa-miR-3591-3p	CLIP-seq
MIRT2461531	hsa-miR-3647-3p	CLIP-seq
MIRT2127978	hsa-miR-371-5p	CLIP-seq
MIRT2461532	hsa-miR-4421	CLIP-seq
MIRT2461533	hsa-miR-4725-5p	CLIP-seq
MIRT2461534	hsa-miR-4786-5p	CLIP-seq
MIRT2461535	hsa-miR-504	CLIP-seq
MIRT2461536	hsa-miR-587	CLIP-seq
MIRT2461537	hsa-miR-769-5p	CLIP-seq
MIRT1427263	hsa-miR-1225-3p	CLIP-seq
MIRT1427264	hsa-miR-1233	CLIP-seq
MIRT2643176	hsa-miR-1273f	CLIP-seq
MIRT2643177	hsa-miR-1285	CLIP-seq
MIRT2643178	hsa-miR-143	CLIP-seq
MIRT2461528	hsa-miR-3148	CLIP-seq
MIRT2643179	hsa-miR-3187-5p	CLIP-seq
MIRT1427275	hsa-miR-3622a-3p	CLIP-seq
MIRT1427276	hsa-miR-3622b-3p	CLIP-seq
MIRT2643180	hsa-miR-3675-3p	CLIP-seq
MIRT2643181	hsa-miR-3688-3p	CLIP-seq
MIRT1427283	hsa-miR-4266	CLIP-seq
MIRT2643182	hsa-miR-4453	CLIP-seq
MIRT2643183	hsa-miR-4538	CLIP-seq
MIRT2643184	hsa-miR-4642	CLIP-seq
MIRT1427291	hsa-miR-4695-5p	CLIP-seq
MIRT2643185	hsa-miR-4708-5p	CLIP-seq
MIRT2643186	hsa-miR-4770	CLIP-seq
MIRT1427294	hsa-miR-4779	CLIP-seq
MIRT2643187	hsa-miR-548c-3p	CLIP-seq
MIRT2643188	hsa-miR-612	CLIP-seq
MIRT1427303	hsa-miR-651	CLIP-seq
MIRT2643189	hsa-miR-661	CLIP-seq

Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	27499293
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005925	Component	Focal adhesion	IDA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0045861	Process	Negative regulation of proteolysis	IDA	25310401, 27499293

MIM	HGNC	e!Ensembl
615404	26230	ENSG00000168955

Q53R12

Protein name

Transmembrane 4 L6 family member 20

Protein function

Polytopic transmembrane protein that inhibits regulated intramembrane proteolysis (RIP) of CREB3L1, inhibiting its activation and the induction of collagen synthesis (PubMed:25310401, PubMed:27499293). In response to ceramide, which alters TM4SF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05805	L6_membrane	2 → 223	L6 membrane protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the brain, with high levels in the parietal lobe, hippocampus, pons, white matter and cerebellum. {ECO:0000269|PubMed:23810381}.

Sequence

MTCCEGWTSCNGFSLLVLLLLGVVLNAIPLIVSLVEEDQFSQNPISCFEWWFPGIIGAGL
MAIPATTMSLTARKRACCNNRTGMFLSSLFSVITVIGALYCMLISIQALLKGPLMCNSPS
NSNANCEFSLKNISDIHPESFNLQWFFNDSCAPPTGFNKPTSNDTMASGWRASSFHFDSE
ENKHRLIHFSVFLGLLLVGILEVLFGLSQIVIGFLGCLCGVSKRRSQIV

Sequence length

229

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT 4	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific language impairment 5	Likely benign; Uncertain significance	ClinVar CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TM4SF20-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	23810381	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPECIFIC LANGUAGE IMPAIRMENT 5	Specific Language Impairment	GENOMICS_ENGLAND_DG	23810381		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPECIFIC LANGUAGE IMPAIRMENT 5	Specific Language Impairment	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

TM4SF20 (transmembrane 4 L six family member 20)