IGHMBP2

Protein identityUniProt · HPA

UniProt accession

P38935

Gene

IGHMBP2

Ensembl

ENSG00000132740

Chromosome

11

Canonical length

993 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies,Cytosol

Quaternary structure

Homooligomer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

993 residues, UniProt reviewed canonical sequence.

>P38935|IGHMBP2
     1  MASAAVESFV TKQLDLLELE RDAEVEERRS WQENISLKEL QSRGVCLLKL QVSSQRTGLY
    61  GRLLVTFEPR RYGSAAALPS NSFTSGDIVG LYDAANEGSQ LATGILTRVT QKSVTVAFDE
   121  SHDFQLSLDR ENSYRLLKLA NDVTYRRLKK ALIALKKYHS GPASSLIEVL FGRSAPSPAS
   181  EIHPLTFFNT CLDTSQKEAV LFALSQKELA IIHGPPGTGK TTTVVEIILQ AVKQGLKVLC
   241  CAPSNIAVDN LVERLALCKQ RILRLGHPAR LLESIQQHSL DAVLARSDSA QIVADIRKDI
   301  DQVFVKNKKT QDKREKSNFR NEIKLLRKEL KEREEAAMLE SLTSANVVLA TNTGASADGP
   361  LKLLPESYFD VVVIDECAQA LEASCWIPLL KARKCILAGD HKQLPPTTVS HKAALAGLSL
   421  SLMERLAEEY GARVVRTLTV QYRMHQAIMR WASDTMYLGQ LTAHSSVARH LLRDLPGVAA
   481  TEETGVPLLL VDTAGCGLFE LEEEDEQSKG NPGEVRLVSL HIQALVDAGV PARDIAVVSP
   541  YNLQVDLLRQ SLVHRHPELE IKSVDGFQGR EKEAVILSFV RSNRKGEVGF LAEDRRINVA
   601  VTRARRHVAV ICDSRTVNNH AFLKTLVEYF TQHGEVRTAF EYLDDIVPEN YSHENSQGSS
   661  HAATKPQGPA TSTRTGSQRQ EGGQEAAAPA RQGRKKPAGK SLASEAPSQP SLNGGSPEGV
   721  ESQDGVDHFR AMIVEFMASK KMQLEFPPSL NSHDRLRVHQ IAEEHGLRHD SSGEGKRRFI
   781  TVSKRAPRPR AALGPPAGTG GPAPLQPVPP TPAQTEQPPR EQRGPDQPDL RTLHLERLQR
   841  VRSAQGQPAS KEQQASGQQK LPEKKKKKAK GHPATDLPTE EDFEALVSAA VKADNTCGFA
   901  KCTAGVTTLG QFCQLCSRRY CLSHHLPEIH GCGERARAHA RQRISREGVL YAGSGTKNGS
   961  LDPAKRAQLQ RRLDKKLSEL SNQRTSRRKE RGT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IGHMBP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

13 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IGHMBP2.

Disease | AllUniProt

Conditions IGHMBP2 is implicated in, by any mechanism.

• Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) MIM:604320
• Charcot-Marie-Tooth disease, axonal, type 2S (CMT2S) MIM:616155

Disease | GeneticClinVar

169 pathogenic / likely-pathogenic of 1,525 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive distal spinal muscular atrophy 1
• Charcot-Marie-Tooth disease axonal type 2S
• Distal spinal muscular atrophy
• Neuronopathy, distal hereditary motor, autosomal dominant
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.95

gnomAD pLI

0

gnomAD missense Z

0.18

DepMap mean gene effect

-0.18

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

• 5'-3' DNA helicase activity
• 5'-3' RNA helicase activity
• ATP binding
• ATP hydrolysis activity
• ATP-dependent activity, acting on DNA
• ATP-dependent activity, acting on RNA
• DNA binding
• DNA helicase activity
• double-stranded DNA helicase activity
• general transcription initiation factor binding
• identical protein binding
• ribosome binding
• RNA binding
• single-stranded DNA binding
• single-stranded RNA binding
• tRNA binding
• zinc ion binding

Cellular components

• axon
• cytoplasm
• cytosol
• growth cone
• membrane
• nuclear body
• nucleoplasm
• nucleus
• ribonucleoprotein complex

Protein domainsUniProt · Pfam · InterPro

• Zinc finger, AN1-type
• R3H domain
• AAA+ ATPase domain
• Helicase superfamily 1/2, ATP-binding domain
• P-loop containing nucleoside triphosphate hydrolase
• AN1-like Zinc finger
• R3H domain superfamily
• DNA2/NAM7 helicase, helicase domain
• DNA2/NAM7 helicase-like, C-terminal
• Upf1-like, C-terminal helicase domain
• Coronaviruses polyprotein 1ab
• R3H domain
• AN1-like Zinc finger
• AAA domain
• AAA domain
• Helicase SMUBP-2/Hcs1-like
• DNA-binding protein SMUBP-2, R3H domain
• Helicase SMUBP-2/HCS1, 1B domain
• Helicase SMUBP-2/HCS1, 1B domain

KeywordsUniProt

• Acetylation
• Activator
• ATP-binding
• Cell projection
• Charcot-Marie-Tooth disease
• Cytoplasm
• DNA-binding
• Helicase
• Hydrolase
• Metal-binding
• Neurodegeneration
• Neuropathy
• Nucleotide-binding
• Nucleus
• Ribonucleoprotein
• RNA-binding
• Transcription
• Transcription regulation
• tRNA-binding
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of IGHMBP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ABT1
• GTF3C1
• RUVBL1
• RUVBL2