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	9375
Gene name	Transmembrane 9 superfamily member 2
Gene symbol	TM9SF2
Synonyms (NCBI Gene)	Lnc-PCIRP76
Chromosome	13
Chromosome location	13q32.3
Summary	This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane dom

Show/Hide all (82)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040243	hsa-miR-615-3p	CLASH	23622248
MIRT712125	hsa-miR-205-5p	HITS-CLIP	19536157
MIRT712124	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT712123	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT712122	hsa-miR-15b-3p	HITS-CLIP	19536157
MIRT727028	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT727027	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT727026	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT727025	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT712125	hsa-miR-205-5p	HITS-CLIP	19536157
MIRT712124	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT712123	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT712122	hsa-miR-15b-3p	HITS-CLIP	19536157
MIRT1427447	hsa-miR-105	CLIP-seq
MIRT1427448	hsa-miR-1252	CLIP-seq
MIRT1427449	hsa-miR-1275	CLIP-seq
MIRT1427450	hsa-miR-146a	CLIP-seq
MIRT1427451	hsa-miR-146b-5p	CLIP-seq
MIRT1427452	hsa-miR-3115	CLIP-seq
MIRT1427453	hsa-miR-3153	CLIP-seq
MIRT1427454	hsa-miR-3159	CLIP-seq
MIRT1427455	hsa-miR-3675-5p	CLIP-seq
MIRT1427456	hsa-miR-4255	CLIP-seq
MIRT1427457	hsa-miR-4461	CLIP-seq
MIRT1427458	hsa-miR-4525	CLIP-seq
MIRT1427459	hsa-miR-4665-5p	CLIP-seq
MIRT1427460	hsa-miR-4709-3p	CLIP-seq
MIRT1427461	hsa-miR-4723-5p	CLIP-seq
MIRT1427462	hsa-miR-4747-5p	CLIP-seq
MIRT1427463	hsa-miR-4762-3p	CLIP-seq
MIRT1427464	hsa-miR-4762-5p	CLIP-seq
MIRT1427465	hsa-miR-580	CLIP-seq
MIRT1427466	hsa-miR-589	CLIP-seq
MIRT1427467	hsa-miR-625	CLIP-seq
MIRT1427468	hsa-miR-642b	CLIP-seq
MIRT1427469	hsa-miR-653	CLIP-seq
MIRT1427448	hsa-miR-1252	CLIP-seq
MIRT1427449	hsa-miR-1275	CLIP-seq
MIRT2128011	hsa-miR-2682	CLIP-seq
MIRT1427452	hsa-miR-3115	CLIP-seq
MIRT1427453	hsa-miR-3153	CLIP-seq
MIRT1427454	hsa-miR-3159	CLIP-seq
MIRT1427455	hsa-miR-3675-5p	CLIP-seq
MIRT2128012	hsa-miR-3714	CLIP-seq
MIRT2128013	hsa-miR-3922-5p	CLIP-seq
MIRT2128014	hsa-miR-449c	CLIP-seq
MIRT1427458	hsa-miR-4525	CLIP-seq
MIRT1427459	hsa-miR-4665-5p	CLIP-seq
MIRT2128015	hsa-miR-4704-3p	CLIP-seq
MIRT1427460	hsa-miR-4709-3p	CLIP-seq
MIRT2128016	hsa-miR-4719	CLIP-seq
MIRT1427461	hsa-miR-4723-5p	CLIP-seq
MIRT1427462	hsa-miR-4747-5p	CLIP-seq
MIRT1427463	hsa-miR-4762-3p	CLIP-seq
MIRT2128017	hsa-miR-4775	CLIP-seq
MIRT1427467	hsa-miR-625	CLIP-seq
MIRT1427468	hsa-miR-642b	CLIP-seq
MIRT1427469	hsa-miR-653	CLIP-seq
MIRT1427447	hsa-miR-105	CLIP-seq
MIRT1427448	hsa-miR-1252	CLIP-seq
MIRT1427449	hsa-miR-1275	CLIP-seq
MIRT2128011	hsa-miR-2682	CLIP-seq
MIRT1427452	hsa-miR-3115	CLIP-seq
MIRT1427453	hsa-miR-3153	CLIP-seq
MIRT1427454	hsa-miR-3159	CLIP-seq
MIRT1427455	hsa-miR-3675-5p	CLIP-seq
MIRT2128012	hsa-miR-3714	CLIP-seq
MIRT2128013	hsa-miR-3922-5p	CLIP-seq
MIRT1427456	hsa-miR-4255	CLIP-seq
MIRT2128014	hsa-miR-449c	CLIP-seq
MIRT1427458	hsa-miR-4525	CLIP-seq
MIRT1427459	hsa-miR-4665-5p	CLIP-seq
MIRT2128015	hsa-miR-4704-3p	CLIP-seq
MIRT1427460	hsa-miR-4709-3p	CLIP-seq
MIRT2128016	hsa-miR-4719	CLIP-seq
MIRT1427461	hsa-miR-4723-5p	CLIP-seq
MIRT1427463	hsa-miR-4762-3p	CLIP-seq
MIRT1427464	hsa-miR-4762-5p	CLIP-seq
MIRT2128017	hsa-miR-4775	CLIP-seq
MIRT1427467	hsa-miR-625	CLIP-seq
MIRT1427468	hsa-miR-642b	CLIP-seq
MIRT1427469	hsa-miR-653	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	TAS	9729438
GO:0005794	Component	Golgi apparatus	IDA	28404855, 30481169
GO:0005794	Component	Golgi apparatus	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	TAS	9729438
GO:0006672	Process	Ceramide metabolic process	IMP	30660999
GO:0006688	Process	Glycosphingolipid biosynthetic process	IMP	30660999
GO:0010008	Component	Endosome membrane	IEA
GO:0010908	Process	Regulation of heparan sulfate proteoglycan biosynthetic process	IMP	28404855
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0072657	Process	Protein localization to membrane	IBA

MIM	HGNC	e!Ensembl
604678	11865	ENSG00000125304

Q99805

Protein name

Transmembrane 9 superfamily member 2 (p76)

Protein function

In the intracellular compartments, may function as a channel or small molecule transporter.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02990	EMP70	75 → 620	Endomembrane protein 70	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Especially abundant in pancreas, highly expressed in kidney, lower levels in heart, brain, skeletal muscle and placenta. Lowest expression in lung and liver. {ECO:0000269|PubMed:9729438}.

Sequence

MSARLPVLSPPRWPRLLLLSLLLLGAVPGPRRSGAFYLPGLAPVNFCDEEKKSDECKAEI
ELFVNRLDSVESVLPYEYTAFDFCQASEGKRPSENLGQVLFGERIEPSPYKFTFNKKETC
KLVCTKTYHTEKAEDKQKLEFLKKSMLLNYQHHWIVDNMPVTWCYDVEDGQRFCNPGFPI
GCYITDKGHAKDACVISSDFHERDTFYIFNHVDIKIYYHVVETGSMGARLVAAKLEPKSF
KHTHIDKPDCSGPPMDISNKASGEIKIAYTYSVSFEEDDKIRWASRWDYILESMPHTHIQ
WFSIMNSLVIVLFLSGMVAMIMLRTLHKDIARYNQMDSTEDAQEEFGWKLVHGDIFRPPR
KGMLLSVFLGSGTQILIMTFVTLFFACLGFLSPANRGALMTCAVVLWVLLGTPAGYVAAR
FYKSFGGEKWKTNVLLTSFLCPGIVFADFFIMNLILWGEGSSAAIPFGTLVAILALWFCI
SVPLTFIGAYFGFKKNAIEHPVRTNQIPRQIPEQSFYTKPLPGIIMGGILPFGCIFIQLF
FILNSIWSHQMYYMFGFLFLVFIILVITCSEATILLCYFHLCAEDYHWQWRSFLTSGFTA
VYFLIYAVHYFFSKLQITGTASTILYFGYTMIMVLIFFLFTGTIGFFACFWFVTKIYSVV
KVD

Sequence length

663

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 (7)

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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Associate	21083371	★★★★★ ★☆☆☆☆ Found in Text Mining only
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	24803180	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Stimulate	38218914	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	31541081	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precancerous Conditions	Associate	31541081	★★★★★ ★☆☆☆☆ Found in Text Mining only

TM9SF2 (transmembrane 9 superfamily member 2)