Gene

ighmbp2

ID

ZDB-GENE-050419-258

Name

immunoglobulin mu DNA binding protein 2

Symbol

ighmbp2 Nomenclature History

Previous Names

ighmbp2l
si:ch211-238n5.2 (1)
zgc:110400

Type

protein_coding_gene

Location

Chr: 18 Mapping Details/Browsers

Description

Predicted to have ATP binding activity; DNA binding activity; and zinc ion binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to localize to cytoplasm and nucleus. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2S and distal spinal muscular atrophy 1. Orthologous to human IGHMBP2 (immunoglobulin mu DNA binding protein 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:6902687 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ighmbp2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive distal hereditary motor neuronopathy 1	Alliance	Neuronopathy, distal hereditary motor, autosomal recessive 1	604320
Charcot-Marie-Tooth disease axonal type 2S	Alliance	Charcot-Marie-Tooth disease, axonal, type 2S	616155

Associated With ighmbp2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000058	Zinc finger, AN1-type
Domain	IPR001374	R3H domain
Domain	IPR003593	AAA+ ATPase domain
Domain	IPR014001	Helicase superfamily 1/2, ATP-binding domain
Domain	IPR034072	DNA-binding protein SMUBP-2, R3H domain
Domain	IPR041677	DNA2/NAM7 helicase, helicase domain
Domain	IPR041679	DNA2/NAM7 helicase-like, C-terminal
Domain	IPR047187	Upf1-like, C-terminal helicase domain
Domain	IPR048761	Helicase SMUBP-2/HCS1, 1B domain
Family	IPR004483	Helicase SMUBP-2/Hcs1-like
Family	IPR050534	Coronaviruses polyprotein 1ab
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR035896	AN1-like Zinc finger
Homologous_superfamily	IPR036867	R3H domain superfamily