GenTIGS

Immunoglobulin mu DNA binding protein 2 (IGHMBP2) Associated conditions: 1. Charcot-Marie-Tooth disease axonal type 2S 2. Charcot-Marie-Tooth disease

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_002180.3	NP_002171.2	NC_000011.10	(68903890..68940600)	Reference GRCh38.p14 Primary Assembly	P38935

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 169 reference articles

Variant Information Immunoglobulin mu DNA binding protein 2 (IGHMBP2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Immunoglobulin mu DNA binding protein 2 (IGHMBP2)

ClinVar variants:Revealing mutagenic patterns

GO Term of Immunoglobulin mu DNA binding protein 2 (IGHMBP2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	enables	tRNA binding	Function	19299493
2	Homo sapiens	IDA	enables	DNA binding	Function	19158098
3	Homo sapiens	TAS	enables	DNA helicase activity	Function	8349627
4	Homo sapiens	IDA	enables	single-stranded DNA binding	Function	30218034
5	Homo sapiens	IDA	enables	RNA binding	Function	19158098
6	Homo sapiens	IDA	enables	single-stranded RNA binding	Function	22965130
7	Homo sapiens	IPI	enables	protein binding	Function	19299493
8	Homo sapiens	IDA	enables	ATP binding	Function	19158098
9	Homo sapiens	IBA	is_active_in	nucleus	Component	21873635
10	Homo sapiens	IDA	located_in	nucleus	Component	19299493
11	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
12	Homo sapiens	IBA	is_active_in	cytoplasm	Component	21873635
13	Homo sapiens	IDA	located_in	cytoplasm	Component	19299493
14	Homo sapiens	IDA	enables	ATP-dependent activity, acting on DNA	Function	19158098
15	Homo sapiens	IPI	enables	transcription factor binding	Function	19299493
16	Homo sapiens	IDA	enables	ATP-dependent activity, acting on RNA	Function	19158098
17	Homo sapiens	IEA	enables	zinc ion binding	Function	-
18	Homo sapiens	IDA	involved_in	RNA secondary structure unwinding	Process	19158098
19	Homo sapiens	HDA	located_in	membrane	Component	19946888
20	Homo sapiens	IDA	located_in	nuclear body	Component	-
21	Homo sapiens	IDA	enables	ATP hydrolysis activity	Function	22965130 30218034
22	Homo sapiens	ISS	located_in	axon	Component	-
23	Homo sapiens	ISS	located_in	growth cone	Component	-
24	Homo sapiens	IDA	involved_in	DNA duplex unwinding	Process	19158098 30218034
25	Homo sapiens	IDA	enables	5'-3' RNA helicase activity	Function	19158098
26	Homo sapiens	IDA	enables	double-stranded DNA helicase activity	Function	30218034
27	Homo sapiens	IPI	enables	identical protein binding	Function	19299493
28	Homo sapiens	IDA	enables	ribosome binding	Function	19158098
29	Homo sapiens	IBA	enables	5'-3' DNA helicase activity	Function	21873635
30	Homo sapiens	IDA	enables	5'-3' DNA helicase activity	Function	19158098
31	Homo sapiens	ISS	part_of	ribonucleoprotein complex	Component	-