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Protein

Transmembrane 4 L6 family member 20

Gene

TM4SF20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane 4 L6 family member 20
Gene namesi
Name:TM4SF20
ORF Names:UNQ518/PRO994
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:26230. TM4SF20.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1414CytoplasmicSequence analysisAdd
BLAST
Transmembranei15 – 3521HelicalSequence analysisAdd
BLAST
Topological domaini36 – 449ExtracellularSequence analysis
Transmembranei45 – 6521HelicalSequence analysisAdd
BLAST
Topological domaini66 – 8318CytoplasmicSequence analysisAdd
BLAST
Transmembranei84 – 10421HelicalSequence analysisAdd
BLAST
Topological domaini105 – 18581ExtracellularSequence analysisAdd
BLAST
Transmembranei186 – 20621HelicalSequence analysisAdd
BLAST
Topological domaini207 – 22923CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Specific language impairment 5 (SLI5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by a delay in early speech acquisition. It is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable.
See also OMIM:615432

Keywords - Diseasei

Autism spectrum disorder

Organism-specific databases

MalaCardsiTM4SF20.
MIMi615432. phenotype.
PharmGKBiPA142670803.

Polymorphism and mutation databases

BioMutaiTM4SF20.
DMDMi74726514.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 229229Transmembrane 4 L6 family member 20PRO_0000251228Add
BLAST

Proteomic databases

MaxQBiQ53R12.
PaxDbiQ53R12.
PRIDEiQ53R12.

Expressioni

Tissue specificityi

Expressed in the brain, with high levels in the parietal lobe, hippocampus, pons, white matter and cerebellum.1 Publication

Gene expression databases

BgeeiQ53R12.
CleanExiHS_TM4SF20.
ExpressionAtlasiQ53R12. baseline and differential.
GenevisibleiQ53R12. HS.

Interactioni

Protein-protein interaction databases

BioGridi122943. 11 interactions.
IntActiQ53R12. 1 interaction.
STRINGi9606.ENSP00000303028.

Structurei

3D structure databases

ProteinModelPortaliQ53R12.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the L6 tetraspanin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IH9I. Eukaryota.
ENOG410YJG8. LUCA.
GeneTreeiENSGT00640000091587.
HOGENOMiHOG000154492.
HOVERGENiHBG094021.
InParanoidiQ53R12.
OMAiGCLCGVS.
OrthoDBiEOG7JX35M.
PhylomeDBiQ53R12.
TreeFamiTF331371.

Family and domain databases

InterProiIPR008661. L6_membrane.
[Graphical view]
PfamiPF05805. L6_membrane. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q53R12-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTCCEGWTSC NGFSLLVLLL LGVVLNAIPL IVSLVEEDQF SQNPISCFEW
60 70 80 90 100
WFPGIIGAGL MAIPATTMSL TARKRACCNN RTGMFLSSLF SVITVIGALY
110 120 130 140 150
CMLISIQALL KGPLMCNSPS NSNANCEFSL KNISDIHPES FNLQWFFNDS
160 170 180 190 200
CAPPTGFNKP TSNDTMASGW RASSFHFDSE ENKHRLIHFS VFLGLLLVGI
210 220
LEVLFGLSQI VIGFLGCLCG VSKRRSQIV
Length:229
Mass (Da):25,075
Last modified:May 24, 2005 - v1
Checksum:i1718E0594997A1A1
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti89 – 891L → F in AAQ89034 (PubMed:12975309).Curated
Sequence conflicti89 – 891L → F in AAH35754 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271A → V.2 Publications
Corresponds to variant rs7574414 [ dbSNP | Ensembl ].
VAR_027673

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358671 mRNA. Translation: AAQ89034.1.
AK026453 mRNA. Translation: BAB15488.1.
AC097662 Genomic DNA. Translation: AAY24253.1.
BC035754 mRNA. Translation: AAH35754.1.
BC137256 mRNA. Translation: AAI37257.1.
BC137257 mRNA. Translation: AAI37258.1.
CCDSiCCDS2466.1.
RefSeqiNP_079071.2. NM_024795.3.
UniGeneiHs.156652.

Genome annotation databases

EnsembliENST00000304568; ENSP00000303028; ENSG00000168955.
GeneIDi79853.
KEGGihsa:79853.
UCSCiuc002vpb.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358671 mRNA. Translation: AAQ89034.1.
AK026453 mRNA. Translation: BAB15488.1.
AC097662 Genomic DNA. Translation: AAY24253.1.
BC035754 mRNA. Translation: AAH35754.1.
BC137256 mRNA. Translation: AAI37257.1.
BC137257 mRNA. Translation: AAI37258.1.
CCDSiCCDS2466.1.
RefSeqiNP_079071.2. NM_024795.3.
UniGeneiHs.156652.

3D structure databases

ProteinModelPortaliQ53R12.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122943. 11 interactions.
IntActiQ53R12. 1 interaction.
STRINGi9606.ENSP00000303028.

Polymorphism and mutation databases

BioMutaiTM4SF20.
DMDMi74726514.

Proteomic databases

MaxQBiQ53R12.
PaxDbiQ53R12.
PRIDEiQ53R12.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304568; ENSP00000303028; ENSG00000168955.
GeneIDi79853.
KEGGihsa:79853.
UCSCiuc002vpb.3. human.

Organism-specific databases

CTDi79853.
GeneCardsiTM4SF20.
H-InvDBHIX0002895.
HGNCiHGNC:26230. TM4SF20.
MalaCardsiTM4SF20.
MIMi615404. gene.
615432. phenotype.
neXtProtiNX_Q53R12.
PharmGKBiPA142670803.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH9I. Eukaryota.
ENOG410YJG8. LUCA.
GeneTreeiENSGT00640000091587.
HOGENOMiHOG000154492.
HOVERGENiHBG094021.
InParanoidiQ53R12.
OMAiGCLCGVS.
OrthoDBiEOG7JX35M.
PhylomeDBiQ53R12.
TreeFamiTF331371.

Miscellaneous databases

GenomeRNAii79853.
NextBioi69567.
PROiQ53R12.
SOURCEiSearch...

Gene expression databases

BgeeiQ53R12.
CleanExiHS_TM4SF20.
ExpressionAtlasiQ53R12. baseline and differential.
GenevisibleiQ53R12. HS.

Family and domain databases

InterProiIPR008661. L6_membrane.
[Graphical view]
PfamiPF05805. L6_membrane. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-27.
    Tissue: Ileal mucosa.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-27.
    Tissue: Colon.
  5. "TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities."
    Wiszniewski W., Hunter J.V., Hanchard N.A., Willer J.R., Shaw C., Tian Q., Illner A., Wang X., Cheung S.W., Patel A., Campbell I.M., Hixson P., Ester A.R., Azamian M.S., Potocki L., Zapata G., Hernandez P.P., Ramocki M.B.
    , Santos-Cortez R.L., Wang G., York M.K., Justice M.J., Chu Z.D., Bader P.I., Omo-Griffith L., Madduri N.S., Scharer G., Crawford H.P., Yanatatsaneejit P., Eifert A., Kerr J., Bacino C.A., Franklin A.I., Goin-Kochel R.P., Simpson G., Immken L., Haque M.E., Stosic M., Williams M.D., Morgan T.M., Pruthi S., Omary R., Boyadjiev S.A., Win K.K., Thida A., Hurles M., Hibberd M.L., Khor C.C., Van Vinh Chau N., Gallagher T.E., Mutirangura A., Stankiewicz P., Beaudet A.L., Maletic-Savatic M., Rosenfeld J.A., Shaffer L.G., Davis E.E., Belmont J.W., Dunstan S., Simmons C.P., Bonnen P.E., Leal S.M., Katsanis N., Lupski J.R., Lalani S.R.
    Am. J. Hum. Genet. 93:197-210(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN SLI5.

Entry informationi

Entry nameiT4S20_HUMAN
AccessioniPrimary (citable) accession number: Q53R12
Secondary accession number(s): B2RP42
, Q5U609, Q6UWS1, Q9H5X9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: May 24, 2005
Last modified: March 16, 2016
This is version 77 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.