Immunoglobulin MU-Binding Protein 2

Alternative Names

IGHMBP2
Cardiac Transcription Factor 1
CATF1
SMUBP2

Length

36,761

No. of Exons

No. of isoforms

Protein Name

DNA-binding protein SMUBP-2

Molecular Mass

109149

Amino Acid Count

993

Genomic Location

chr11:68,903,842-68,940,602

Gene Map Locus

11q13.3

Description

The IGHMBP2 gene encodes a protein that is part of the DEXDc superfamily of DNA/RNA helicases. The protein functions as a transcription regulator and may also be involved in translation. Defective IGHMBP2 leads to motor neuron vulnerability.

The IGHMBP2 gene has been associated with Spinal Muscular Atrophy with Respiratory Distress 1 (SMARD1).

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_002180.2:c.2011A>G	Lebanon	NC_000011.10:g.68936491A>G	Benign	Benign		NG_007976.1:g.37641A>G; NM_002180.2:c.2011A>G; NP_002171.2:p.Thr671Ala	622082	258566
NM_002180.2:c.2316C>T	Lebanon	NC_000011.10:g.68936796C>T	Benign	Benign		NG_007976.1:g.37946C>T; NM_002180.2:c.2316C>T; NP_002171.2:p.Ser772=	546382	258570
NM_002180.2:c.62G>T	Lebanon	NC_000011.10:g.68904014G>T		Likely Pathogenic	Charcot-Marie-Tooth Disease, Axonal, Type 2S	NG_007976.1:g.5164G>T; NM_002180.2:c.62G>T; NP_002171.2:p.Arg21Ile
NM_002180.2:c.638A>G	Lebanon	chr11:68911530	Pathogenic	Pathogenic	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	NG_007976.1:g.12680A>G; NM_002180.2:c.638A>G; NP_002171.2:p.His213Arg	137852666	9113
NM_002180.2:c.707T>G	Lebanon	chr11:68911599	Pathogenic	Pathogenic	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	NG_007976.1:g.12749T>G; NM_002180.2:c.707T>G; NP_002171.2:p.Leu236Ter	137852669	9117
NM_002180.2:c.958C>T	Saudi Arabia	chr11: 68917781	Likely Pathogenic	Likely Pathogenic	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	NG_007976.1:g.18931C>T; NM_002180.2:c.958C>T; NP_002171.2:p.Arg320Ter	773690764	374169
NM_002180.3:c.1540G>A	Lebanon	NC_000011.10:g.68934466G>A	Pathogenic	Likely Pathogenic, Pathogenic	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1; Charcot-Marie-Tooth Disease, Axonal, Type 2S	NM_002180.3:c.1540G>A; NP_002171.2:p.Glu514Lys	137852665	9112

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=IGHMBP2 https://www.ncbi.nlm.nih.gov/gene/3508

Contributors

Pratibha Nair: 11.11.2020
Sami Bizzari: 14.05.2020
Pratibha Nair: 05.04.2020
Sayeeda Hana: 18.09.2016

Edit History

Pratibha Nair: 11.11.2020
Pratibha Nair: 10.11.2020
Sami Bizzari: 14.05.2020
Pratibha Nair: 05.04.2020
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004

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