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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23524
Gene name	Serine/arginine repetitive matrix 2
Gene symbol	SRRM2
Synonyms (NCBI Gene)	300-KDCWF21Cwc21HSPC075MRD72SRL300SRm300
Chromosome	16
Chromosome location	16p13.3

220

Show/Hide all (220)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025333	hsa-miR-34a-5p	Proteomics	21566225
MIRT025333	hsa-miR-34a-5p	Proteomics	21566225
MIRT025333	hsa-miR-34a-5p	Proteomics	21566225
MIRT029360	hsa-miR-26b-5p	Microarray	19088304
MIRT050213	hsa-miR-25-3p	CLASH	23622248
MIRT049895	hsa-miR-31-5p	CLASH	23622248
MIRT047263	hsa-miR-181b-5p	CLASH	23622248
MIRT046785	hsa-miR-222-3p	CLASH	23622248
MIRT045978	hsa-miR-125b-5p	CLASH	23622248
MIRT045088	hsa-miR-186-5p	CLASH	23622248
MIRT044591	hsa-miR-320a	CLASH	23622248
MIRT043382	hsa-miR-331-3p	CLASH	23622248
MIRT042938	hsa-miR-324-3p	CLASH	23622248
MIRT041079	hsa-miR-504-5p	CLASH	23622248
MIRT040916	hsa-miR-18a-3p	CLASH	23622248
MIRT040335	hsa-miR-615-3p	CLASH	23622248
MIRT039202	hsa-miR-769-5p	CLASH	23622248
MIRT039116	hsa-miR-769-3p	CLASH	23622248
MIRT037946	hsa-miR-505-5p	CLASH	23622248
MIRT037831	hsa-miR-455-3p	CLASH	23622248
MIRT037385	hsa-miR-744-5p	CLASH	23622248
MIRT037385	hsa-miR-744-5p	CLASH	23622248
MIRT037298	hsa-miR-877-5p	CLASH	23622248
MIRT1389844	hsa-miR-1262	CLIP-seq
MIRT1389845	hsa-miR-1275	CLIP-seq
MIRT1389846	hsa-miR-2110	CLIP-seq
MIRT1389847	hsa-miR-27a	CLIP-seq
MIRT1389848	hsa-miR-27b	CLIP-seq
MIRT1389849	hsa-miR-3143	CLIP-seq
MIRT1389850	hsa-miR-3153	CLIP-seq
MIRT1389851	hsa-miR-3154	CLIP-seq
MIRT1389852	hsa-miR-3165	CLIP-seq
MIRT1389853	hsa-miR-3166	CLIP-seq
MIRT1389854	hsa-miR-3185	CLIP-seq
MIRT1389855	hsa-miR-3194-3p	CLIP-seq
MIRT1389856	hsa-miR-361-3p	CLIP-seq
MIRT1389857	hsa-miR-3653	CLIP-seq
MIRT1389858	hsa-miR-3658	CLIP-seq
MIRT1389859	hsa-miR-4259	CLIP-seq
MIRT1389860	hsa-miR-4271	CLIP-seq
MIRT1389861	hsa-miR-4455	CLIP-seq
MIRT1389862	hsa-miR-4474-3p	CLIP-seq
MIRT1389863	hsa-miR-4475	CLIP-seq
MIRT1389864	hsa-miR-4511	CLIP-seq
MIRT1389865	hsa-miR-4643	CLIP-seq
MIRT1389866	hsa-miR-4665-5p	CLIP-seq
MIRT1389867	hsa-miR-4667-5p	CLIP-seq
MIRT1389868	hsa-miR-4700-5p	CLIP-seq
MIRT1389869	hsa-miR-4701-3p	CLIP-seq
MIRT1389870	hsa-miR-4723-5p	CLIP-seq
MIRT1389871	hsa-miR-4725-3p	CLIP-seq
MIRT1389872	hsa-miR-4728-5p	CLIP-seq
MIRT1389873	hsa-miR-4731-5p	CLIP-seq
MIRT1389874	hsa-miR-4798-3p	CLIP-seq
MIRT1389875	hsa-miR-483-3p	CLIP-seq
MIRT1389876	hsa-miR-494	CLIP-seq
MIRT1389877	hsa-miR-513a-5p	CLIP-seq
MIRT1389878	hsa-miR-520a-5p	CLIP-seq
MIRT1389879	hsa-miR-525-5p	CLIP-seq
MIRT1389880	hsa-miR-532-3p	CLIP-seq
MIRT1389881	hsa-miR-532-5p	CLIP-seq
MIRT1389882	hsa-miR-543	CLIP-seq
MIRT1389883	hsa-miR-609	CLIP-seq
MIRT1389884	hsa-miR-662	CLIP-seq
MIRT1389885	hsa-miR-760	CLIP-seq
MIRT1389886	hsa-miR-873	CLIP-seq
MIRT1389844	hsa-miR-1262	CLIP-seq
MIRT1389845	hsa-miR-1275	CLIP-seq
MIRT2116778	hsa-miR-2278	CLIP-seq
MIRT2116779	hsa-miR-300	CLIP-seq
MIRT2116780	hsa-miR-3140-5p	CLIP-seq
MIRT1389851	hsa-miR-3154	CLIP-seq
MIRT1389852	hsa-miR-3165	CLIP-seq
MIRT1389853	hsa-miR-3166	CLIP-seq
MIRT2116781	hsa-miR-345	CLIP-seq
MIRT2116782	hsa-miR-3545-3p	CLIP-seq
MIRT1389856	hsa-miR-361-3p	CLIP-seq
MIRT1389857	hsa-miR-3653	CLIP-seq
MIRT1389858	hsa-miR-3658	CLIP-seq
MIRT2116783	hsa-miR-3713	CLIP-seq
MIRT2116784	hsa-miR-381	CLIP-seq
MIRT1389859	hsa-miR-4259	CLIP-seq
MIRT2116785	hsa-miR-4428	CLIP-seq
MIRT2116786	hsa-miR-4446-3p	CLIP-seq
MIRT1389861	hsa-miR-4455	CLIP-seq
MIRT2116787	hsa-miR-4468	CLIP-seq
MIRT1389862	hsa-miR-4474-3p	CLIP-seq
MIRT1389863	hsa-miR-4475	CLIP-seq
MIRT2116788	hsa-miR-4480	CLIP-seq
MIRT2116789	hsa-miR-4505	CLIP-seq
MIRT2116790	hsa-miR-4539	CLIP-seq
MIRT2116791	hsa-miR-4645-5p	CLIP-seq
MIRT1389866	hsa-miR-4665-5p	CLIP-seq
MIRT2116792	hsa-miR-4666-3p	CLIP-seq
MIRT2116793	hsa-miR-4673	CLIP-seq
MIRT1389869	hsa-miR-4701-3p	CLIP-seq
MIRT2116794	hsa-miR-4718	CLIP-seq
MIRT1389870	hsa-miR-4723-5p	CLIP-seq
MIRT1389872	hsa-miR-4728-5p	CLIP-seq
MIRT1389873	hsa-miR-4731-5p	CLIP-seq
MIRT2116795	hsa-miR-4789-5p	CLIP-seq
MIRT1389875	hsa-miR-483-3p	CLIP-seq
MIRT1389876	hsa-miR-494	CLIP-seq
MIRT2116796	hsa-miR-508-5p	CLIP-seq
MIRT2116797	hsa-miR-513b	CLIP-seq
MIRT1389878	hsa-miR-520a-5p	CLIP-seq
MIRT1389879	hsa-miR-525-5p	CLIP-seq
MIRT1389880	hsa-miR-532-3p	CLIP-seq
MIRT1389881	hsa-miR-532-5p	CLIP-seq
MIRT1389883	hsa-miR-609	CLIP-seq
MIRT1389845	hsa-miR-1275	CLIP-seq
MIRT2339186	hsa-miR-1292	CLIP-seq
MIRT2339187	hsa-miR-1299	CLIP-seq
MIRT1389846	hsa-miR-2110	CLIP-seq
MIRT2116779	hsa-miR-300	CLIP-seq
MIRT1389851	hsa-miR-3154	CLIP-seq
MIRT1389854	hsa-miR-3185	CLIP-seq
MIRT1389855	hsa-miR-3194-3p	CLIP-seq
MIRT2339188	hsa-miR-3667-3p	CLIP-seq
MIRT2116784	hsa-miR-381	CLIP-seq
MIRT2339189	hsa-miR-3925-3p	CLIP-seq
MIRT1389860	hsa-miR-4271	CLIP-seq
MIRT2339190	hsa-miR-4292	CLIP-seq
MIRT2339191	hsa-miR-4471	CLIP-seq
MIRT1389862	hsa-miR-4474-3p	CLIP-seq
MIRT1389863	hsa-miR-4475	CLIP-seq
MIRT1389864	hsa-miR-4511	CLIP-seq
MIRT2339192	hsa-miR-4525	CLIP-seq
MIRT2339193	hsa-miR-4645-3p	CLIP-seq
MIRT2339194	hsa-miR-4646-5p	CLIP-seq
MIRT1389866	hsa-miR-4665-5p	CLIP-seq
MIRT2116792	hsa-miR-4666-3p	CLIP-seq
MIRT1389867	hsa-miR-4667-5p	CLIP-seq
MIRT1389868	hsa-miR-4700-5p	CLIP-seq
MIRT2339195	hsa-miR-4705	CLIP-seq
MIRT1389870	hsa-miR-4723-5p	CLIP-seq
MIRT1389871	hsa-miR-4725-3p	CLIP-seq
MIRT1389872	hsa-miR-4728-5p	CLIP-seq
MIRT1389873	hsa-miR-4731-5p	CLIP-seq
MIRT2339196	hsa-miR-4782-5p	CLIP-seq
MIRT2116795	hsa-miR-4789-5p	CLIP-seq
MIRT1389874	hsa-miR-4798-3p	CLIP-seq
MIRT1389875	hsa-miR-483-3p	CLIP-seq
MIRT2116797	hsa-miR-513b	CLIP-seq
MIRT2339197	hsa-miR-516b	CLIP-seq
MIRT1389878	hsa-miR-520a-5p	CLIP-seq
MIRT1389879	hsa-miR-525-5p	CLIP-seq
MIRT1389880	hsa-miR-532-3p	CLIP-seq
MIRT2339198	hsa-miR-625	CLIP-seq
MIRT1389884	hsa-miR-662	CLIP-seq
MIRT1389885	hsa-miR-760	CLIP-seq
MIRT2116780	hsa-miR-3140-5p	CLIP-seq
MIRT2116782	hsa-miR-3545-3p	CLIP-seq
MIRT2116789	hsa-miR-4505	CLIP-seq
MIRT2116790	hsa-miR-4539	CLIP-seq
MIRT2116791	hsa-miR-4645-5p	CLIP-seq
MIRT2116793	hsa-miR-4673	CLIP-seq
MIRT1389873	hsa-miR-4731-5p	CLIP-seq
MIRT2116796	hsa-miR-508-5p	CLIP-seq
MIRT2632995	hsa-miR-1224-3p	CLIP-seq
MIRT2632996	hsa-miR-1260	CLIP-seq
MIRT2632997	hsa-miR-1260b	CLIP-seq
MIRT1389845	hsa-miR-1275	CLIP-seq
MIRT2632998	hsa-miR-1280	CLIP-seq
MIRT2632999	hsa-miR-1470	CLIP-seq
MIRT2116780	hsa-miR-3140-5p	CLIP-seq
MIRT2116782	hsa-miR-3545-3p	CLIP-seq
MIRT1389856	hsa-miR-361-3p	CLIP-seq
MIRT1389857	hsa-miR-3653	CLIP-seq
MIRT1389858	hsa-miR-3658	CLIP-seq
MIRT2116783	hsa-miR-3713	CLIP-seq
MIRT2633000	hsa-miR-3938	CLIP-seq
MIRT1389859	hsa-miR-4259	CLIP-seq
MIRT2116789	hsa-miR-4505	CLIP-seq
MIRT1389864	hsa-miR-4511	CLIP-seq
MIRT2116790	hsa-miR-4539	CLIP-seq
MIRT1389865	hsa-miR-4643	CLIP-seq
MIRT2116791	hsa-miR-4645-5p	CLIP-seq
MIRT1389866	hsa-miR-4665-5p	CLIP-seq
MIRT2633001	hsa-miR-4667-3p	CLIP-seq
MIRT2116793	hsa-miR-4673	CLIP-seq
MIRT2633002	hsa-miR-4698	CLIP-seq
MIRT2116794	hsa-miR-4718	CLIP-seq
MIRT1389870	hsa-miR-4723-5p	CLIP-seq
MIRT1389872	hsa-miR-4728-5p	CLIP-seq
MIRT1389873	hsa-miR-4731-5p	CLIP-seq
MIRT1389876	hsa-miR-494	CLIP-seq
MIRT2116796	hsa-miR-508-5p	CLIP-seq
MIRT2116797	hsa-miR-513b	CLIP-seq
MIRT1389880	hsa-miR-532-3p	CLIP-seq
MIRT1389881	hsa-miR-532-5p	CLIP-seq
MIRT2633003	hsa-miR-548aa	CLIP-seq
MIRT2633004	hsa-miR-548ac	CLIP-seq
MIRT2633005	hsa-miR-548d-3p	CLIP-seq
MIRT2633006	hsa-miR-548z	CLIP-seq
MIRT2633007	hsa-miR-642a	CLIP-seq
MIRT2632995	hsa-miR-1224-3p	CLIP-seq
MIRT2632996	hsa-miR-1260	CLIP-seq
MIRT2632997	hsa-miR-1260b	CLIP-seq
MIRT1389845	hsa-miR-1275	CLIP-seq
MIRT2632998	hsa-miR-1280	CLIP-seq
MIRT2632999	hsa-miR-1470	CLIP-seq
MIRT2116780	hsa-miR-3140-5p	CLIP-seq
MIRT2116782	hsa-miR-3545-3p	CLIP-seq
MIRT1389856	hsa-miR-361-3p	CLIP-seq
MIRT2116783	hsa-miR-3713	CLIP-seq
MIRT2633000	hsa-miR-3938	CLIP-seq
MIRT1389859	hsa-miR-4259	CLIP-seq
MIRT2116789	hsa-miR-4505	CLIP-seq
MIRT2116790	hsa-miR-4539	CLIP-seq
MIRT2116791	hsa-miR-4645-5p	CLIP-seq
MIRT1389866	hsa-miR-4665-5p	CLIP-seq
MIRT2633001	hsa-miR-4667-3p	CLIP-seq
MIRT2116793	hsa-miR-4673	CLIP-seq
MIRT1389870	hsa-miR-4723-5p	CLIP-seq
MIRT1389872	hsa-miR-4728-5p	CLIP-seq
MIRT1389873	hsa-miR-4731-5p	CLIP-seq
MIRT2116796	hsa-miR-508-5p	CLIP-seq
MIRT1389880	hsa-miR-532-3p	CLIP-seq
MIRT2633007	hsa-miR-642a	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28076346
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	17577209, 22365833, 25852190, 28514442, 32707033, 33961781
GO:0005634	Component	Nucleus	IDA	28062851, 28076346
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IDA	17577209
GO:0016607	Component	Nuclear speck	IDA	17577209
GO:0016607	Component	Nuclear speck	IEA
GO:0070742	Function	C2H2 zinc finger domain binding	IDA	17577209
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	29361316
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IDA	28076346
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

MIM	HGNC	e!Ensembl
606032	16639	ENSG00000167978

Q9UQ35

Protein name

Serine/arginine repetitive matrix protein 2 (300 kDa nuclear matrix antigen) (Serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa) (SR-related nuclear matrix protein of 300 kDa) (Ser/Arg-related nuclear matrix protein of 300 kDa

Protein function

Required for pre-mRNA splicing as component of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). {ECO:0000269|PubMed:19854871, ECO:0000269|PubMed:28076346, ECO:0000269

PDB

5MQF , 5XJC , 5YZG , 5Z56 , 5Z57 , 6FF4 , 6FF7 , 6ICZ , 6QDV , 6ZYM , 7A5P , 7DVQ , 7QTT , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8I0W , 9FMD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08312	cwf21	58 → 101	cwf21 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in liver, placenta, and white blood cells. {ECO:0000269|PubMed:11004489}.

Sequence

MYNGIGLPTPRGSGTNGYVQRNLSLVRGRRGERPDYKGEEELRRLEAALVKRPNPDILDH
ERKRRVELRCLELEEMMEEQGYEEQQIQEKVATFRLMLLEKDVNPGGKEETPGQRPAVTE
THQLAELNEKKNERLRAAFGISDSYVDGSSFDPQRRAREAKQPAPEPPKPYSLVRESSSS
RSPTPKQKKKKKKKDRGRRSESSSPRRERKKSSKKKKHRSESESKKRKHRSPTPKSKRKS
KDKKRKRSRSTTPAPKSRRAHRSTSADSASSSDTSRSRSRSAAAKTHTTALAGRSPSPAS
GRRGEGDAPFSEPGTTSTQRPSSPETATKQPSSPYEDKDKDKKEKSATRPSPSPERSSTG
PEPPAPTPLLAERHGGSPQPLATTPLSQEPVNPPSEASPTRDRSPPKSPEKLPQSSSSES
SPPSPQPTKVSRHASSSPESPKPAPAPGSHREISSSPTSKNRSHGRAKRDKSHSHTPSRR
MGRSRSPATAKRGRSRSRTPTKRGHSRSRSPQWRRSRSAQRWGRSRSPQRRGRSRSPQRP
GWSRSRNTQRRGRSRSARRGRSHSRSPATRGRSRSRTPARRGRSRSRTPARRRSRSRTPT
RRRSRSRTPARRGRSRSRTPARRRSRTRSPVRRRSRSRSPARRSGRSRSRTPARRGRSRS
RTPARRGRSRSRTPARRSGRSRSRTPARRGRSRSRTPRRGRSRSRSLVRRGRSHSRTPQR
RGRSGSSSERKNKSRTSQRRSRSNSSPEMKKSRISSRRSRSLSSPRSKAKSRLSLRRSLS
GSSPCPKQKSQTPPRRSRSGSSQPKAKSRTPPRRSRSSSSPPPKQKSKTPSRQSHSSSSP
HPKVKSGTPPRQGSITSPQANEQSVTPQRRSCFESSPDPELKSRTPSRHSCSGSSPPRVK
SSTPPRQSPSRSSSPQPKVKAIISPRQRSHSGSSSPSPSRVTSRTTPRRSRSVSPCSNVE
SRLLPRYSHSGSSSPDTKVKPETPPRQSHSGSISPYPKVKAQTPPGPSLSGSKSPCPQEK
SKDSLVQSCPGSLSLCAGVKSSTPPGESYFGVSSLQLKGQSQTSPDHRSDTSSPEVRQSH
SESPSLQSKSQTSPKGGRSRSSSPVTELASRSPIRQDRGEFSASPMLKSGMSPEQSRFQS
DSSSYPTVDSNSLLGQSRLETAESKEKMALPPQEDATASPPRQKDKFSPFPVQDRPESSL
VFKDTLRTPPRERSGAGSSPETKEQNSALPTSSQDEELMEVVEKSEEPAGQILSHLSSEL
KEMSTSNFESSPEVEERPAVSLTLDQSQSQASLEAVEVPSMASSWGGPHFSPEHKELSNS
PLRENSFGSPLEFRNSGPLGTEMNTGFSSEVKEDLNGPFLNQLETDPSLDMKEQSTRSSG
HSSSELSPDAVEKAGMSSNQSISSPVLDAVPRTPSRERSSSASSPEMKDGLPRTPSRRSR
SGSSPGLRDGSGTPSRHSLSGSSPGMKDIPRTPSRGRSECDSSPEPKALPQTPRPRSRSP
SSPELNNKCLTPQRERSGSESSVDQKTVARTPLGQRSRSGSSQELDVKPSASPQERSESD
SSPDSKAKTRTPLRQRSRSGSSPEVDSKSRLSPRRSRSGSSPEVKDKPRAAPRAQSGSDS
SPEPKAPAPRALPRRSRSGSSSKGRGPSPEGSSSTESSPEHPPKSRTARRGSRSSPEPKT
KSRTPPRRRSSRSSPELTRKARLSRRSRSASSSPETRSRTPPRHRRSPSVSSPEPAEKSR
SSRRRRSASSPRTKTTSRRGRSPSPKPRGLQRSRSRSRREKTRTTRRRDRSGSSQSTSRR
RQRSRSRSRVTRRRRGGSGYHSRSPARQESSRTSSRRRRGRSRTPPTSRKRSRSRTSPAP
WKRSRSRASPATHRRSRSRTPLISRRRSRSRTSPVSRRRSRSRTSVTRRRSRSRASPVSR
RRSRSRTPPVTRRRSRSRTPTTRRRSRSRTPPVTRRRSRSRTPPVTRRRSRSRTSPITRR
RSRSRTSPVTRRRSRSRTSPVTRRRSRSRTSPVTRRRSRSRTPPAIRRRSRSRTPLLPRK
RSRSRSPLAIRRRSRSRTPRTARGKRSLTRSPPAIRRRSASGSSSDRSRSATPPATRNHS
GSRTPPVALNSSRMSCFSRPSMSPTPLDRCRSPGMLEPLGSSRTPMSVLQQAGGSMMDGP
GPRIPDHQRTSVPENHAQSRIALALTAISLGTARPPPSMSAAGLAARMSQVPAPVPLMSL
RTAPAANLASRIPAASAAAMNLASARTPAIPTAVNLADSRTPAAAAAMNLASPRTAVAPS
AVNLADPRTPTAPAVNLAGARTPAALAALSLTGSGTPPTAANYPSSSRTPQAPASANLVG
PRSAHATAPVNIAGSRTAAALAPASLTSARMAPALSGANLTSPRVPLSAYERVSGRTSPP
LLDRARSRTPPSAPSQSRMTSERAPSPSSRMGQAPSQSLLPPAQDQPRSPVPSAFSDQSR
CLIAQTTPVAGSQSLSSGAVATTTSSAGDHNGMLSVPAPGVPHSDVGEPPASTGAQQPSA
LAALQPAKERRSSSSSSSSSSSSSSSSSSSSSSSSSGSSSSDSEGSSLPVQPEVALKRVP
SPTPAPKEAVREGRPPEPTPAKRKRRSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSS
SSSSSSSSPSPAKPGPQALPKPASPKKPPPGERRSRSPRKPIDSLRDSRSLSYSPVERRR
PSPQPSPRDQQSSSSERGSRRGQRGDSRSPSHKRRRETPSPRPMRHRSSRSP

Sequence length

2752

Interactions

View interactions

	Reactome
			mRNA Splicing - Major Pathway

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 Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Complex febrile seizure	Likely pathogenic	rs2505614378	RCV002286480	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder, autosomal dominant 72	Pathogenic; Likely pathogenic	rs2150776793, rs2150776534, rs2150777933, rs2150779172, rs747576963, rs760736029, rs2150776380, rs2505618143, rs2505609700, rs2505602121	RCV003238148 RCV003238149 RCV003238150 RCV003238151 RCV003238152 RCV003238153 RCV003238154 RCV004763624 RCV003494066 RCV003988707	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs2150776793, rs2150776534, rs2150777933, rs2150777403, rs2150776824, rs1464581573, rs2150778065, rs2150778293, rs2150778741, rs764663923, rs2150775947, rs2150779172, rs747576963, rs760736029, rs2150776380 View all (5 more)	RCV001780025 RCV001780026 RCV001807702 RCV001807703 RCV001807704 RCV001807705 RCV001807706 RCV001807707 RCV001807708 RCV001807709 RCV001807710 RCV001807711 RCV001807712 RCV001807713 RCV001807714 RCV001807715 RCV001807716 RCV001807717 RCV001807718 RCV004018272	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Likely pathogenic	rs2505614378	RCV002286480	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SRRM2-related disorder	Likely pathogenic	rs2505606471, rs2505591396, rs1188022140	RCV003400400 RCV003397365 RCV003420906	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Status epilepticus	Likely pathogenic	rs2505614378	RCV002286480	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

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.
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY, OVERWEIGHT, FACIAL DYSMORPHISM, BEHAVIORAL ABNORMALITIES SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY-OVERWEIGHT-FACIAL DYSMORPHISM-BEHAVIORAL ABNORMALITIES SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SRRM2-related Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Attention Deficit Disorder with Hyperactivity	Associate	35567594	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Associate	35567594	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome Aberrations	Associate	38289482	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	35567594, 37621647, 40225164	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disease	Associate	35567594	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Associate	35346324	★★★★★ ★☆☆☆☆ Found in Text Mining only
Genetic Diseases Inborn	Associate	37621647	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Associate	32938406	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Inhibit	35929045	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	35567594, 40225164	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Associate	35567594, 37621647	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	35929045	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Associate	29784880	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	38289482	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscle Hypotonia	Associate	35567594	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	38289482	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculodigitoesophagoduodenal syndrome	Associate	37621647	★★★★★ ★☆☆☆☆ Found in Text Mining only
Overweight	Associate	35567594	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Stimulate	20161708	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Inhibit	33171483	★★★★★ ★☆☆☆☆ Found in Text Mining only
Plaque Atherosclerotic	Associate	32938406	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rupture	Associate	32938406	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Stimulate	36914870	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thakker Donnai syndrome	Associate	35567594	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Associate	26135620	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Associate	27530615	★★★★★ ★☆☆☆☆ Found in Text Mining only

SRRM2 (serine/arginine repetitive matrix 2)