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	114784
Gene name	CUB and Sushi multiple domains 2
Gene symbol	CSMD2
Synonyms (NCBI Gene)	dJ1007G16.1dJ1007G16.2dJ947L8.1
Chromosome	1
Chromosome location	1p35.1
Summary	The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by

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miRTarBase ID	miRNA	Experiments	Reference
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610437	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT629118	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610437	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT635355	hsa-miR-1972	HITS-CLIP	23824327
MIRT635354	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT629118	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610437	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610437	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610437	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT629118	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610437	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT635355	hsa-miR-1972	HITS-CLIP	23824327
MIRT635354	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT629118	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610437	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610441	hsa-miR-8485	HITS-CLIP	23824327
MIRT610440	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT610439	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT610438	hsa-miR-603	HITS-CLIP	23824327
MIRT610437	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT610436	hsa-miR-3941	HITS-CLIP	23824327
MIRT911985	hsa-miR-1207-3p	CLIP-seq
MIRT911986	hsa-miR-1252	CLIP-seq
MIRT911987	hsa-miR-1324	CLIP-seq
MIRT911988	hsa-miR-216b	CLIP-seq
MIRT911989	hsa-miR-3130-3p	CLIP-seq
MIRT911990	hsa-miR-3143	CLIP-seq
MIRT911991	hsa-miR-3166	CLIP-seq
MIRT911992	hsa-miR-338-3p	CLIP-seq
MIRT911993	hsa-miR-3650	CLIP-seq
MIRT911994	hsa-miR-3921	CLIP-seq
MIRT911995	hsa-miR-3944-5p	CLIP-seq
MIRT911996	hsa-miR-4428	CLIP-seq
MIRT911997	hsa-miR-4649-3p	CLIP-seq
MIRT911998	hsa-miR-4653-5p	CLIP-seq
MIRT911999	hsa-miR-4704-3p	CLIP-seq
MIRT912000	hsa-miR-4793-3p	CLIP-seq
MIRT912001	hsa-miR-490-5p	CLIP-seq
MIRT912002	hsa-miR-544	CLIP-seq
MIRT912003	hsa-miR-624	CLIP-seq
MIRT912004	hsa-miR-922	CLIP-seq
MIRT1970317	hsa-miR-1183	CLIP-seq
MIRT1970318	hsa-miR-1287	CLIP-seq
MIRT1970319	hsa-miR-28-5p	CLIP-seq
MIRT1970320	hsa-miR-3135b	CLIP-seq
MIRT1970321	hsa-miR-3139	CLIP-seq
MIRT911990	hsa-miR-3143	CLIP-seq
MIRT1970322	hsa-miR-3160-5p	CLIP-seq
MIRT1970323	hsa-miR-3180-5p	CLIP-seq
MIRT1970324	hsa-miR-346	CLIP-seq
MIRT1970325	hsa-miR-3671	CLIP-seq
MIRT1970326	hsa-miR-4288	CLIP-seq
MIRT1970327	hsa-miR-4487	CLIP-seq
MIRT1970328	hsa-miR-4694-3p	CLIP-seq
MIRT911999	hsa-miR-4704-3p	CLIP-seq
MIRT1970329	hsa-miR-548k	CLIP-seq
MIRT1970330	hsa-miR-607	CLIP-seq
MIRT1970331	hsa-miR-632	CLIP-seq
MIRT1970332	hsa-miR-708	CLIP-seq
MIRT1970333	hsa-miR-873	CLIP-seq
MIRT1970334	hsa-miR-875-3p	CLIP-seq
MIRT2206267	hsa-miR-1236	CLIP-seq
MIRT2206268	hsa-miR-223	CLIP-seq
MIRT2206269	hsa-miR-2277-3p	CLIP-seq
MIRT2206270	hsa-miR-3074-5p	CLIP-seq
MIRT911991	hsa-miR-3166	CLIP-seq
MIRT2206271	hsa-miR-3182	CLIP-seq
MIRT2206272	hsa-miR-3202	CLIP-seq
MIRT2206273	hsa-miR-4271	CLIP-seq
MIRT911996	hsa-miR-4428	CLIP-seq
MIRT2206274	hsa-miR-4652-3p	CLIP-seq
MIRT2206275	hsa-miR-4697-3p	CLIP-seq
MIRT2206276	hsa-miR-4716-3p	CLIP-seq
MIRT2206277	hsa-miR-4725-3p	CLIP-seq
MIRT2206278	hsa-miR-4742-5p	CLIP-seq
MIRT2206279	hsa-miR-4747-5p	CLIP-seq
MIRT2206280	hsa-miR-4771	CLIP-seq
MIRT2206281	hsa-miR-499a-5p	CLIP-seq
MIRT2206282	hsa-miR-625	CLIP-seq
MIRT2206267	hsa-miR-1236	CLIP-seq
MIRT2386515	hsa-miR-1587	CLIP-seq
MIRT2386516	hsa-miR-192	CLIP-seq
MIRT2386517	hsa-miR-215	CLIP-seq
MIRT1970319	hsa-miR-28-5p	CLIP-seq
MIRT1970320	hsa-miR-3135b	CLIP-seq
MIRT1970321	hsa-miR-3139	CLIP-seq
MIRT2386518	hsa-miR-3189-3p	CLIP-seq
MIRT2386519	hsa-miR-3909	CLIP-seq
MIRT2386520	hsa-miR-4437	CLIP-seq
MIRT1970327	hsa-miR-4487	CLIP-seq
MIRT2386521	hsa-miR-4674	CLIP-seq
MIRT2206281	hsa-miR-499a-5p	CLIP-seq
MIRT2386522	hsa-miR-635	CLIP-seq
MIRT1970332	hsa-miR-708	CLIP-seq
MIRT1970318	hsa-miR-1287	CLIP-seq
MIRT2509569	hsa-miR-1908	CLIP-seq
MIRT1970320	hsa-miR-3135b	CLIP-seq
MIRT2509570	hsa-miR-3612	CLIP-seq
MIRT2509571	hsa-miR-3615	CLIP-seq
MIRT2509572	hsa-miR-4283	CLIP-seq
MIRT2509573	hsa-miR-4443	CLIP-seq
MIRT2509574	hsa-miR-4508	CLIP-seq
MIRT2509575	hsa-miR-650	CLIP-seq
MIRT2509576	hsa-miR-663	CLIP-seq
MIRT2509577	hsa-miR-744	CLIP-seq

Show/Hide all (6)

GO ID	Ontology	Definition	Evidence
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0097107	Process	Postsynaptic density assembly	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099562	Process	Maintenance of postsynaptic density structure	IEA

MIM	HGNC	e!Ensembl
608398	19290	ENSG00000121904

Q7Z408

Protein name

CUB and sushi domain-containing protein 2 (CUB and sushi multiple domains protein 2)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00431	CUB	26 → 131	CUB domain	Domain
PF00084	Sushi	139 → 196	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	202 → 303	CUB domain	Domain
PF00084	Sushi	343 → 400	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	405 → 513	CUB domain	Domain
PF00084	Sushi	521 → 574	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	578 → 683	CUB domain	Domain
PF00084	Sushi	691 → 748	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	752 → 857	CUB domain	Domain
PF00084	Sushi	867 → 920	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	924 → 1031	CUB domain	Domain
PF00084	Sushi	1039 → 1094	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	1098 → 1203	CUB domain	Domain
PF00084	Sushi	1211 → 1267	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	1271 → 1377	CUB domain	Domain
PF00084	Sushi	1385 → 1441	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	1445 → 1550	CUB domain	Domain
PF00084	Sushi	1558 → 1615	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	1619 → 1724	CUB domain	Domain
PF00084	Sushi	1735 → 1792	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	1796 → 1901	CUB domain	Domain
PF00084	Sushi	1909 → 1964	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	1968 → 2073	CUB domain	Domain
PF00084	Sushi	2123 → 2178	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	2182 → 2286	CUB domain	Domain
PF00084	Sushi	2294 → 2351	Sushi repeat (SCR repeat)	Domain
PF00431	CUB	2355 → 2463	CUB domain	Domain
PF00084	Sushi	2531 → 2588	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	2591 → 2653	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	2658 → 2711	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	2716 → 2769	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	2774 → 2827	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	2835 → 2888	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	2893 → 2947	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	2952 → 3007	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	3012 → 3065	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	3070 → 3123	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	3131 → 3185	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	3190 → 3245	Sushi repeat (SCR repeat)	Domain

Tissue specificity

TISSUE SPECIFICITY: Weakly expressed in most tissues, except in brain. Expressed at intermediate level in brain, including cerebellum, substantia nigra, hippocampus and fetal brain. Overexpressed in some head and neck cancer cell lines. {ECO:0000269|PubMe

Sequence

MRLISIAPGPRWQVQSHHPRSAGQNCTFQLHGPNGTVESPGFPYGYPNYANCTWTITAEE
QHRIQLVFQSFALEEDFDVLSVFDGPPQPENLRTRLTGFQLPATIVSAATTLSLRLISDY
AVSAQGFHATYEVLPSHTCGNPGRLPNGIQQGSTFNLGDKVRYSCNLGFFLEGHAVLTCH
AGSENSATWDFPLPSCRADDACGGTLRGQSGIISSPHFPSEYHNNADCTWTILAELGDTI
ALVFIDFQLEDGYDFLEVTGTEGSSLWFTGASLPAPVISSKNWLRLHFTSDGNHRQRGFS
AQYQVKKQIELKSRGVKLMPSKDNSQKTSVLTQVGVSQGHNMCPDPGIPERGKRLGSDFR
LGSSVQFTCNEGYDLQGSKRITCMKVSDMFAAWSDHRPVCRARMCDAHLRGPSGIITSPN
FPIQYDNNAHCVWIITALNPSKVIKLAFEEFDLERGYDTLTVGDGGQDGDQKTVLYILTG
TSVPDLIVSTNHQMWLLFQTDGSGSSLGFKASYEEIEQGSCGDPGIPAYGRREGSRFHHG
DTLKFECQPAFELVGQKAITCQKNNQWSAKKPGCVFSCFFNFTSPSGVVLSPNYPEDYGN
HLHCVWLILARPESRIHLAFNDIDVEPQFDFLVIKDGATAEAPVLGTFSGNQLPSSITSS
GHVARLEFQTDHSTGKRGFNITFTTFRHNECPDPGVPVNGKRFGDSLQLGSSISFLCDEG
FLGTQGSETITCVLKEGSVVWNSAVLRCEAPCGGHLTSPSGTILSPGWPGFYKDALSCAW
VIEAQPGYPIKITFDRFKTEVNYDTLEVRDGRTYSAPLIGVYHGTQVPQFLISTSNYLYL
LFSTDKSHSDIGFQLRYETITLQSDHCLDPGIPVNGQRHGNDFYVGALVTFSCDSGYTLS
DGEPLECEPNFQWSRALPSCEALCGGFIQGSSGTILSPGFPDFYPNNLNCTWIIETSHGK
GVFFTFHTFHLESGHDYLLITENGSFTQPLRQLTGSRLPAPISAGLYGNFTAQVRFISDF
SMSYEGFNITFSEYDLEPCEEPEVPAYSIRKGLQFGVGDTLTFSCFPGYRLEGTARITCL
GGRRRLWSSPLPRCVAECGNSVTGTQGTLLSPNFPVNYNNNHECIYSIQTQPGKGIQLKA
RAFELSEGDVLKVYDGNNNSARLLGVFSHSEMMGVTLNSTSSSLWLDFITDAENTSKGFE
LHFSSFELIKCEDPGTPKFGYKVHDEGHFAGSSVSFSCDPGYSLRGSEELLCLSGERRTW
DRPLPTCVAECGGTVRGEVSGQVLSPGYPAPYEHNLNCIWTIEAEAGCTIGLHFLVFDTE
EVHDVLRIWDGPVESGVLLKELSGPALPKDLHSTFNSVVLQFSTDFFTSKQGFAIQFSVS
TATSCNDPGIPQNGSRSGDSWEAGDSTVFQCDPGYALQGSAEISCVKIENRFFWQPSPPT
CIAPCGGDLTGPSGVILSPNYPEPYPPGKECDWKVTVSPDYVIALVFNIFNLEPGYDFLH
IYDGRDSLSPLIGSFYGSQLPGRIESSSNSLFLAFRSDASVSNAGFVIDYTENPRESCFD
PGSIKNGTRVGSDLKLGSSVTYYCHGGYEVEGTSTLSCILGPDGKPVWNNPRPVCTAPCG
GQYVGSDGVVLSPNYPQNYTSGQICLYFVTVPKDYVVFGQFAFFHTALNDVVEVHDGHSQ
HSRLLSSLSGSHTGESLPLATSNQVLIKFSAKGLAPARGFHFVYQAVPRTSATQCSSVPE
PRYGKRLGSDFSVGAIVRFECNSGYALQGSPEIECLPVPGALAQWNVSAPTCVVPCGGNL
TERRGTILSPGFPEPYLNSLNCVWKIVVPEGAGIQIQVVSFVTEQNWDSLEVFDGADNTV
TMLGSFSGTTVPALLNSTSNQLYLHFYSDISVSAAGFHLEYKTVGLSSCPEPAVPSNGVK
TGERYLVNDVVSFQCEPGYALQGHAHISCMPGTVRRWNYPPPLCIAQCGGTVEEMEGVIL
SPGFPGNYPSNMDCSWKIALPVGFGAHIQFLNFSTEPNHDYIEIRNGPYETSRMMGRFSG
SELPSSLLSTSHETTVYFHSDHSQNRPGFKLEYQDLTYSHQISSFLRGFDLSELERTNST
PPVAASYVWDLDPGCEAYELQECPDPEPFANGIVRGAGYNVGQSVTFECLPGYQLTGHPV
LTCQHGTNRNWDHPLPKCEVPCGGNITSSNGTVYSPGFPSPYSSSQDCVWLITVPIGHGV
RLNLSLLQTEPSGDFITIWDGPQQTAPRLGVFTRSMAKKTVQSSSNQVLLKFHRDAATGG
IFAIAFSAYPLTKCPPPTILPNAEVVTENEEFNIGDIVRYRCLPGFTLVGNEILTCKLGT
YLQFEGPPPICEVHCPTNELLTDSTGVILSQSYPGSYPQFQTCSWLVRVEPDYNISLTVE
YFLSEKQYDEFEIFDGPSGQSPLLKALSGNYSAPLIVTSSSNSVYLRWSSDHAYNRKGFK
IRYSAPYCSLPRAPLHGFILGQTSTQPGGSIHFGCNAGYRLVGHSMAICTRHPQGYHLWS
EAIPLCQALSCGLPEAPKNGMVFGKEYTVGTKAMYSCSEGYHLQAGAEATAECLDTGLWS
NRNVPPQCVPVTCPDVSSISVEHGRWRLIFETQYQFQAQLMLICDPGYYYTGQRVIRCQA
NGKWSLGDSTPTCRIISCGELPIPPNGHRIGTLSVYGATAIFSCNSGYTLVGSRVRECMA
NGLWSGSEVRCLAGHCGTPEPIVNGHINGENYSYRGSVVYQCNAGFRLIGMSVRICQQDH
HWSGKTPFCVLVSCGHPGSPPHSQMSGDSYTVGAVVRYSCIGKRTLVGNSTRMCGLDGHW
TGSLPHCSGTSVGVCGDPGIPAHGIRLGDSFDPGTVMRFSCEAGHVLRGSSERTCQANGS
WSGSQPECGVISCGNPGTPSNARVVFSDGLVFSSSIVYECREGYYATGLLSRHCSVNGTW
TGSDPECLVINCGDPGIPANGLRLGNDFRYNKTVTYQCVPGYMMESHRVSVLSCTKDRTW
NGTKPVCKALMCKPPPLIPNGKVVGSDFMWGSSVTYACLEGYQLSLPAVFTCEGNGSWTG
ELPQCFPVFCGDPGVPSRGRREDRGFSYRSSVSFSCHPPLVLVGSPRRFCQSDGTWSGTQ
PSCIDPTLTTCADPGVPQFGIQNNSQGYQVGSTVLFRCQKGYLLQGSTTRTCLPNLTWSG
TPPDCVPHHCRQPETPTHANVGALDLPSMGYTLIYSCQEGFSLKGGSEHRTCKADGSWTG
KPPICLEVRPSGRPINTAREPPLTQALIPGDVFAKNSLWKGAYEYQGKKQPAMLRVTGFQ
VANSKVNATMIDHSGVELHLAGTYKKEDFHLLLQVYQITGPVEIFMNKFKDDHWALDGHV
SSESSGATFIYQGSVKGQGFGQFGFQRLDLRLLESDPESIGRHFASNSSSVAAAILVPFI
ALIIAGFVLYLYKHRRRPKVPFNGYAGHENTNVRATFENPMYDRNIQPTDIMASEAEFTV
STVCTAV

Sequence length

3487

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 (25)

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.
ANORECTAL MALFORMATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autism	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	28332277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	18839057		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	18839057		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	26806518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32190687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24408017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24408017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27890662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	22064162		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	22064162	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Gestational	Gestational diabetes	Pubtator	35721735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	GWASCAT_DG	30093612		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	12906867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27890662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	25897834		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	12906867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21723258		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24718909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	22064162		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	12906867, 24408017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	27890662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37800791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	12906867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21723258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27890662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	27890662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21439553, 27890662		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21439553		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	27890662	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32065787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32190687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37800791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	12906867		★★★★★ ★☆☆☆☆ Found in Text Mining only

CSMD2 (CUB and Sushi multiple domains 2)