• Gene id: 3508

Gene Summary

• Gene Symbol: IGHMBP2   Gene   UCSC   Ensembl
• Aliases: CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7
• Gene name: immunoglobulin mu DNA binding protein 2
• Alternate names: DNA-binding protein SMUBP-2, ATP-dependent helicase IGHMBP2, GF-1, cardiac transcription factor 1, glial factor 1, immunoglobulin mu binding protein 2, zinc finger, AN1-type domain 7,
• Gene location: 11q13.3 (68903854: 68940600)     Exons: 19     NC_000011.10
• Gene summary(Entrez): 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]
• OMIM: 614092

Protein Summary

• Protein general information: P38935  
  • 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)
  • Length: 993  
  • Mass: 109149
  • 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
• Sequence:

  MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPRRYGSA
  AALPSNSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLANDVTYRRLKK
  ALIALKKYHSGPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVV
  EIILQAVKQGLKVLCCAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDI
  DQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGPLKLLPESYFDVVVID
  ECAQALEASCWIPLLKARKCILAGDHKQLPPTTVSHKAALAGLSLSLMERLAEEYGARVVRTLTVQYRMHQAIMR
  WASDTMYLGQLTAHSSVARHLLRDLPGVAATEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQAL
  VDAGVPARDIAVVSPYNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVA
  VTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSSHAATKPQGPATSTRT
  GSQRQEGGQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGVESQDGVDHFRAMIVEFMASKKMQLEFPPSL
  NSHDRLRVHQIAEEHGLRHDSSGEGKRRFITVSKRAPRPRAALGPPAGTGGPAPLQPVPPTPAQTEQPPREQRGP
  DQPDLRTLHLERLQRVRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFA
  KCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGSLDPAKRAQLQRRLDK
  KLSELSNQRTSRRKERGT

• Structural information:
  • Protein Domains: (723..78-)
    (/note="R3H-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00382"-)
  • Interpro: IPR003593  IPR035896  IPR041679  IPR041677  IPR014001   IPR027417  IPR001374  IPR036867  IPR034072  IPR004483  IPR000058  
  • Prosite: PS51061 PS51039
  • CDD: cd02641
  • PDB: 1MSZ 2LRR 4B3F 4B3G
  • PDBsum: 1MSZ 2LRR 4B3F 4B3G
  • STRING: ENSP00000255078
• Other Databases: GeneCards:  IGHMBP2  Malacards:  IGHMBP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:1990904	ribonucleoprotein complex	ISS	cellular component
GO:0030424	axon	ISS	cellular component
GO:0030426	growth cone	ISS	cellular component
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003697	single-stranded DNA binding	TAS	molecular function
GO:0003697	single-stranded DNA binding	TAS	molecular function
GO:0003678	DNA helicase activity	TAS	molecular function
GO:0006310	DNA recombination	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0000049	tRNA binding	IDA	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0030424	axon	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0043139	5'-3' DNA helicase activity	IDA	molecular function
GO:0043022	ribosome binding	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0000049	tRNA binding	IDA	molecular function
GO:0032574	5'-3' RNA helicase activity	IDA	molecular function
GO:0008186	RNA-dependent ATPase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0006412	translation	NAS	biological process

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Distal hereditary motor neuropathies	KEGG:H00856
Charcot-Marie-Tooth disease	KEGG:H00264
Distal hereditary motor neuropathies	KEGG:H00856
Distal spinal muscular atrophy 1	PMID:11528396
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray