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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	3508
Gene name	Immunoglobulin mu DNA binding protein 2
Gene symbol	IGHMBP2
Synonyms (NCBI Gene)	CATF1CMT2SHCSAHMN6HMNR1SMARD1SMUBP2ZFAND7
Chromosome	11
Chromosome location	11q13.3
Summary	This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

Show/Hide all (84)

SNP ID	Visualize variation	Clinical significance	Consequence
rs7122089	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs35193202	C>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs61731907	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs76707931	C>T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, synonymous variant
rs117061430	C>G,T	Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, stop gained
rs137852665	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs137852666	A>G	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs137852667	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, 3 prime UTR variant, non coding transcript variant
rs137852668	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs137852669	T>G	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs137852670	C>G,T	Pathogenic	Synonymous variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs139207271	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, intron variant, upstream transcript variant
rs139926138	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs140221316	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs141594765	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs142062146	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs145226920	C>A,T	Pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs147409148	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs147674615	T>A,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs147918962	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs148157556	C>T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs149824485	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs151079750	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs199839840	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs200089714	C>G,T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, stop gained, coding sequence variant, genic upstream transcript variant
rs201060167	T>C	Uncertain-significance, pathogenic	Upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201147313	G>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs201692151	G>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201970407	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs368775789	C>A,T	Likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant, synonymous variant
rs372000714	T>A	Uncertain-significance, pathogenic	Stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs372181708	C>G,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs373001247	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs556292818	G>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs557416644	C>G,T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs724159958	T>G	Pathogenic, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs724159959	T>A,G	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs724159960	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs724159994	AG>-	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs746581714	AAGAA>-	Pathogenic, uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs750024353	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs750994603	G>-	Pathogenic, uncertain-significance	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs751549678	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs754465226	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs756985703	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs759641927	T>C	Uncertain-significance, pathogenic-likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, upstream transcript variant
rs761789207	C>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs770111639	G>A	Likely-pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs773242930	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs773690764	C>T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs777575504	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs780594709	C>T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs786205089	T>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs786205090	G>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs797044802	G>A,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Splice donor variant, genic upstream transcript variant
rs797044803	G>T	Conflicting-interpretations-of-pathogenicity	Splice donor variant, genic downstream transcript variant
rs863224880	G>A	Pathogenic, likely-pathogenic	Stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs863224881	A>C	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs879253865	T>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs879253886	T>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs879253887	C>T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs886042313	ATAGTGG>CA	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs886043773	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886043774	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs991227431	C>T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1000091588	C>T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant
rs1057518588	G>A	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs1057518943	G>A,C	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1131691657	GGCAGTCAGCTG>ATGCT	Pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1160978570	G>C,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1202430946	C>A,T	Pathogenic	3 prime UTR variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1249076926	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs1303837541	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1324667543	C>T	Pathogenic, uncertain-significance	Genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1373247548	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs1555243325	C>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1555247732	->A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1566424655	A>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1566430156	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1566439723	A>G	Pathogenic	Coding sequence variant, missense variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1566443170	->T	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1566445029	A>G	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1594415353	G>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1594427410	C>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant

Show/Hide all (56)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028922	hsa-miR-26b-5p	Microarray	19088304
MIRT052253	hsa-let-7b-5p	CLASH	23622248
MIRT050680	hsa-miR-18a-5p	CLASH	23622248
MIRT040925	hsa-miR-18a-3p	CLASH	23622248
MIRT037182	hsa-miR-877-3p	CLASH	23622248
MIRT1062366	hsa-miR-2467-5p	CLIP-seq
MIRT1062367	hsa-miR-3151	CLIP-seq
MIRT1062368	hsa-miR-3188	CLIP-seq
MIRT1062369	hsa-miR-3975	CLIP-seq
MIRT1062370	hsa-miR-4447	CLIP-seq
MIRT1062371	hsa-miR-4472	CLIP-seq
MIRT1062372	hsa-miR-4532	CLIP-seq
MIRT1062373	hsa-miR-4649-3p	CLIP-seq
MIRT1062374	hsa-miR-4663	CLIP-seq
MIRT1062375	hsa-miR-4699-5p	CLIP-seq
MIRT1062376	hsa-miR-4728-3p	CLIP-seq
MIRT1062377	hsa-miR-485-5p	CLIP-seq
MIRT1062378	hsa-miR-486-3p	CLIP-seq
MIRT1062379	hsa-miR-491-5p	CLIP-seq
MIRT2014757	hsa-miR-3176	CLIP-seq
MIRT2014758	hsa-miR-3922-3p	CLIP-seq
MIRT2014759	hsa-miR-4701-5p	CLIP-seq
MIRT2014760	hsa-miR-588	CLIP-seq
MIRT2247034	hsa-miR-2355-5p	CLIP-seq
MIRT2247035	hsa-miR-299-3p	CLIP-seq
MIRT2247036	hsa-miR-3199	CLIP-seq
MIRT2247037	hsa-miR-4505	CLIP-seq
MIRT2247038	hsa-miR-4515	CLIP-seq
MIRT2247039	hsa-miR-4661-3p	CLIP-seq
MIRT2247040	hsa-miR-4764-5p	CLIP-seq
MIRT1062377	hsa-miR-485-5p	CLIP-seq
MIRT2247041	hsa-miR-520a-5p	CLIP-seq
MIRT2247042	hsa-miR-525-5p	CLIP-seq
MIRT2247043	hsa-miR-629	CLIP-seq
MIRT2550614	hsa-miR-1972	CLIP-seq
MIRT2550615	hsa-miR-4269	CLIP-seq
MIRT2550616	hsa-miR-4645-5p	CLIP-seq
MIRT2550617	hsa-miR-4673	CLIP-seq
MIRT2550618	hsa-miR-4755-3p	CLIP-seq
MIRT2682691	hsa-miR-1225-3p	CLIP-seq
MIRT2682692	hsa-miR-141	CLIP-seq
MIRT2682693	hsa-miR-200a	CLIP-seq
MIRT2682694	hsa-miR-3150b-3p	CLIP-seq
MIRT2682695	hsa-miR-4418	CLIP-seq
MIRT2682696	hsa-miR-4689	CLIP-seq
MIRT2682697	hsa-miR-4704-3p	CLIP-seq
MIRT2682698	hsa-miR-4710	CLIP-seq
MIRT2682699	hsa-miR-4716-3p	CLIP-seq
MIRT2682700	hsa-miR-4779	CLIP-seq
MIRT2682701	hsa-miR-4784	CLIP-seq
MIRT2682702	hsa-miR-4792	CLIP-seq
MIRT2682703	hsa-miR-509-3-5p	CLIP-seq
MIRT2682704	hsa-miR-509-5p	CLIP-seq
MIRT2682705	hsa-miR-513a-5p	CLIP-seq
MIRT2682706	hsa-miR-625	CLIP-seq
MIRT2682707	hsa-miR-765	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	19299493
GO:0000049	Function	TRNA binding	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IDA	19158098
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	TAS	8349627
GO:0003697	Function	Single-stranded DNA binding	IDA	30218034
GO:0003697	Function	Single-stranded DNA binding	TAS	8349627, 8493094
GO:0003723	Function	RNA binding	IDA	19158098
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IEA
GO:0003727	Function	Single-stranded RNA binding	IDA	22965130
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	19299493
GO:0005524	Function	ATP binding	IDA	19158098
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19299493
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19299493
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	19158098
GO:0008186	Function	ATP-dependent activity, acting on RNA	IDA	19158098
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	22965130, 30218034
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030426	Component	Growth cone	ISS
GO:0032574	Function	5'-3' RNA helicase activity	IDA	19158098
GO:0036121	Function	Double-stranded DNA helicase activity	IDA	30218034
GO:0042802	Function	Identical protein binding	IPI	19299493
GO:0042995	Component	Cell projection	IEA
GO:0043022	Function	Ribosome binding	IDA	19158098
GO:0043139	Function	5'-3' DNA helicase activity	IBA
GO:0043139	Function	5'-3' DNA helicase activity	IDA	19158098
GO:0046872	Function	Metal ion binding	IEA
GO:0140296	Function	General transcription initiation factor binding	IPI	19299493
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:1990904	Component	Ribonucleoprotein complex	ISS

MIM	HGNC	e!Ensembl
600502	5542	ENSG00000132740

P38935

Protein name

DNA-binding protein SMUBP-2 (EC 3.6.4.12) (EC 3.6.4.13) (ATP-dependent helicase IGHMBP2) (Glial factor 1) (GF-1) (Immunoglobulin mu-binding protein 2)

Protein function

5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction (PubMed:19158098, PubMed:22999958, PubMed:30218034). Specific to 5'-phosphorylated single-stranded guanine-rich sequences (PubMed:22999958, PubMed:8349627). May pla

PDB

1MSZ , 2LRR , 4B3F , 4B3G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13086	AAA_11	191 → 411	AAA domain	Domain
PF13087	AAA_12	418 → 615	AAA domain	Domain
PF01424	R3H	726 → 784	R3H domain	Domain
PF01428	zf-AN1	897 → 937	AN1-like Zinc finger	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues examined. Expressed in the developing and adult human brain, with highest expression in the cerebellum. Moderately expressed in fibroblasts. {ECO:0000269|PubMed:25439726}.

Sequence

MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLY
GRLLVTFEPRRYGSAAALPSNSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDE
SHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHSGPASSLIEVLFGRSAPSPAS
EIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLC
CAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDI
DQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGP
LKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGDHKQLPPTTVSHKAALAGLSL
SLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAA
TEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSP
YNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVA
VTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSS
HAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGV
ESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFI
TVSKRAPRPRAALGPPAGTGGPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQR
VRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFA
KCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGS
LDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT

Sequence length

993

Interactions

View interactions

2717

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive distal spinal muscular atrophy 1	Likely pathogenic; Pathogenic	rs1483165002, rs1015531394, rs2154007211, rs1424522130, rs2154009273, rs2154008646, rs1178427226, rs2154006724, rs773543257, rs2154006948, rs2154008651, rs777570288, rs2154008712, rs2154008654, rs2495942854 View all (109 more)	RCV001377632 RCV001389576 RCV001383330 RCV001530179 RCV002032700 RCV001837045 RCV001968794 RCV001912495 RCV002035238 RCV001879091 RCV001929258 RCV001891992 RCV002249080 RCV002267553 RCV002285091 RCV000550952 RCV000552806 RCV003078163 RCV002680749 RCV003765161 RCV001852432 RCV002711010 RCV002881604 RCV003765465 RCV002518403 RCV000240656 RCV000240663 RCV000240667 RCV003052120 RCV001059408 RCV000235082 RCV000235071 RCV001095539 RCV000535929 RCV000009685 RCV000009686 RCV000009687 RCV000009688 RCV000009689 RCV000235043 RCV000544728 RCV001244709 RCV001332102 RCV001859559 RCV000819925 RCV001218954 RCV003335903 RCV003778310 RCV003784265 RCV003781884 RCV003783580 RCV003789520 RCV003790012 RCV003795413 RCV003782585 RCV003785161 RCV003793983 RCV003806056 RCV003806758 RCV003791071 RCV003791302 RCV003805877 RCV003803758 RCV003801590 RCV003804102 RCV003803118 RCV003803316 RCV003797023 RCV003808457 RCV003800684 RCV003808913 RCV003817864 RCV003810076 RCV003807426 RCV003815213 RCV003810502 RCV003807259 RCV003990389 RCV004547195 RCV000754569 RCV003987526 RCV001332103 RCV000542958 RCV000541500 RCV000677234 RCV000642633 RCV000795152 RCV000806942 RCV000625148 RCV003767835 RCV000677267 RCV000642630 RCV000680011 RCV000705582 RCV000704215 RCV000692478 RCV000706919 RCV000695581 RCV000696268 RCV000695071 RCV000685957 RCV001383707 RCV000791593 RCV002536921 RCV001221389 RCV001869221 RCV003768476 RCV001856233 RCV001390624 RCV003768475 RCV000806743 RCV002535816 RCV004800584 RCV001376977 RCV000800244 RCV000985181 RCV001227491 RCV001390623 RCV001869234 RCV000793544 RCV000825531 RCV001038862 RCV001067255 RCV001036717 RCV001209897 RCV001204582 RCV001244728 RCV001227492 RCV001243549
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs724159994, rs797044803, rs746581714, rs145226920, rs201060167, rs773690764, rs991227431, rs1000091588, rs1303837541, rs1594451999, rs199839840, rs1859177429	RCV000192260 RCV000192264 RCV000856966 RCV001172566 RCV001027460 RCV000789659 RCV000856975 RCV000856973 RCV000789974 RCV000789350 RCV000856977 RCV001173327
Charcot-Marie-Tooth disease axonal type 2S	Likely pathogenic; Pathogenic	rs1483165002, rs1015531394, rs2154007211, rs1424522130, rs2154009273, rs2154008646, rs1178427226, rs2154006724, rs773543257, rs2154006948, rs2154008651, rs777570288, rs372000714, rs724159994, rs724159959 View all (102 more)	RCV001377632 RCV001389576 RCV001383330 RCV003771640 RCV002051592 RCV001837045 RCV001968794 RCV001912495 RCV002035238 RCV001879091 RCV001929258 RCV001891992 RCV000149574 RCV000149575 RCV000149577 RCV003078163 RCV002680749 RCV000240669 RCV001852432 RCV002711010 RCV002881604 RCV003765465 RCV002518403 RCV000810966 RCV000240655 RCV000240662 RCV003052120 RCV001059408 RCV000539394 RCV004799738 RCV000664227 RCV000535929 RCV003764542 RCV002288478 RCV001807723 RCV000528403 RCV003152883 RCV000544728 RCV001244709 RCV003765468 RCV001859559 RCV000819925 RCV001218954 RCV003777431 RCV003778310 RCV003784265 RCV003781884 RCV003783580 RCV003789520 RCV003790012 RCV003795413 RCV003782585 RCV003785161 RCV003793983 RCV003806056 RCV003806758 RCV003791071 RCV003791302 RCV003805877 RCV003803758 RCV003801590 RCV003804102 RCV003803118 RCV003803316 RCV003797023 RCV003808457 RCV003800684 RCV003808913 RCV003817864 RCV003810076 RCV003807426 RCV003815213 RCV003810502 RCV003807259 RCV000642629 RCV002521458 RCV005010410 RCV000542958 RCV000541500 RCV000642633 RCV000795152 RCV000806942 RCV003767833 RCV000626052 RCV000642630 RCV001218953 RCV000705582 RCV000704215 RCV000692478 RCV000706919 RCV000695581 RCV000696268 RCV000695071 RCV000685957 RCV001383707 RCV000791593 RCV000768428 RCV002536921 RCV001221389 RCV001869221 RCV003768476 RCV001856233 RCV001390624 RCV003768475 RCV000806743 RCV002535816 RCV001376977 RCV000800244 RCV001869220 RCV001227491 RCV001390623 RCV001869234 RCV000793544 RCV001038862 RCV001067255 RCV001036717 RCV001209897 RCV001204582 RCV001244728 RCV001227492 RCV001243549
Difficulty walking	Likely pathogenic; Pathogenic	rs773690764	RCV000415032
Distal spinal muscular atrophy	Pathogenic; Likely pathogenic	rs372000714, rs724159994, rs200089714, rs201060167, rs991227431, rs557416644, rs1000091588, rs770111639, rs759641927, rs372181708, rs1332319177, rs1479493690, rs779716706, rs776730737, rs750994603, rs1366461184 View all (1 more)	RCV000790277 RCV000664248 RCV000221711 RCV000790269 RCV000790272 RCV000789658 RCV000790274 RCV000790283 RCV000790271 RCV000826144 RCV000790273 RCV000790281 RCV000789654 RCV000789645 RCV000790284 RCV000790268
Hammertoe	Likely pathogenic; Pathogenic	rs773690764	RCV000415032
IGHMBP2-related disorder	Pathogenic; Likely pathogenic	rs773543257, rs746581714, rs200089714, rs145226920, rs767630646, rs797044802	RCV004741165 RCV003335195 RCV003335233 RCV004739623 RCV004552598 RCV004740380
Inability to walk	Likely pathogenic; Pathogenic	rs773690764	RCV000415032
Lower limb muscle weakness	Likely pathogenic; Pathogenic	rs773690764	RCV000415032
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2154008611, rs145226920	RCV002277709 RCV002277579
Neuronopathy, distal hereditary motor, autosomal dominant	Likely pathogenic; Pathogenic	rs797044802, rs746581714, rs780594709, rs786205090, rs1324667543, rs372181708, rs972425138, rs1594427564, rs1594445698, rs1594453111, rs1337346956, rs1240319744, rs199839840, rs754422011, rs774079947	RCV000789355 RCV000789980 RCV000789340 RCV000789975 RCV000789338 RCV000789344 RCV000789337 RCV000789347 RCV000789339 RCV000790330 RCV000789345 RCV000789679 RCV000789336 RCV000789354 RCV000789346
Neuronopathy, distal hereditary motor, autosomal dominant 1	Likely pathogenic; Pathogenic	rs1566443170	RCV001813800
Peripheral neuropathy	Pathogenic; Likely pathogenic	rs372000714, rs137852667	RCV001814070 RCV001813969
Progressive muscle weakness	Likely pathogenic; Pathogenic	rs773690764	RCV000415032
See cases	Likely pathogenic; Pathogenic	rs199839840	RCV002252236
Spinal muscular atrophy	Likely pathogenic; Pathogenic	rs972425138, rs1858067021	RCV001267649 RCV001267659

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs201147313	RCV005895655
Autosomal dominant intermediate Charcot-Marie-Tooth disease	Uncertain significance	rs1413846126	RCV000856976
Cervical cancer	Conflicting classifications of pathogenicity; Benign	rs139207271, rs115320302	RCV005895093 RCV005892550
Charcot-Marie-Tooth disease type 4	Uncertain significance	rs1594453023	RCV000856972
Charcot-Marie-Tooth disease, type I	Uncertain significance	rs1555243999	RCV000856964
Cholangiocarcinoma	Benign	rs673821	RCV005905731
Clear cell carcinoma of kidney	Benign	rs4930624	RCV005892546
Gastric cancer	Conflicting classifications of pathogenicity; Benign	rs35193202, rs673821	RCV005895062 RCV005905730
Lung cancer	Benign	rs673821	RCV005905732
Malignant lymphoma, large B-cell, diffuse	Benign	rs4930624, rs115320302	RCV005892547 RCV005892551
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs35193202	RCV005895061
Melanoma	Conflicting classifications of pathogenicity; Benign	rs35193202, rs4930624	RCV005895066 RCV005892549
Neuronopathy, distal hereditary motor, type 2C	Conflicting classifications of pathogenicity	rs764900781	RCV005407677
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs35193202	RCV005895063
Sarcoma	Conflicting classifications of pathogenicity	rs139207271	RCV005895094
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs35193202	RCV005895065
Uterine carcinosarcoma	Conflicting classifications of pathogenicity; Benign	rs35193202, rs4930624	RCV005895064 RCV005892548
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	rs139207271, rs115320302	RCV005895095 RCV005892552

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autonomic Nervous System Diseases	Associate	30385095
Charcot Marie Tooth Disease	Associate	26556829, 31020813, 31827005, 34169998, 39973457
Epilepsy	Associate	35611426
Gastrointestinal Diseases	Associate	30385095
Hereditary Sensory and Motor Neuropathy	Associate	25439726
Inherited Peripheral Neuropathy	Associate	31020813
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	35611426
Muscle Weakness	Associate	22965130, 35611426
Muscular Atrophy Spinal	Associate	27450922
Nerve Degeneration	Associate	30863264
Neuromuscular Diseases	Associate	32154989, 38368610
Nystagmus Pathologic	Associate	35611426
Peripheral Nervous System Diseases	Associate	26556829, 30385095
Polyneuropathies	Associate	27450922
Respiratory Distress Syndrome	Associate	22965130, 35611426, 36480289
Respiratory Insufficiency	Associate	27450922, 39202358
Respiratory Paralysis	Associate	39202358
Sensorimotor neuropathy with ataxia autosomal dominant	Associate	27450922
Spastic Paraplegia Hereditary	Associate	26556829
Spinal Muscular Atrophies of Childhood	Associate	26709713
Spinal muscular atrophy with respiratory distress 1	Associate	21353777, 22965130, 25439726, 26709713, 27450922, 30385095, 30863264, 35611426, 36077311, 38368610, 39202358
Vocal Cord Paralysis	Associate	35611426

IGHMBP2 (immunoglobulin mu DNA binding protein 2)