| 68325 | Ighmbp2 | immunoglobulin mu DNA binding protein 2 | ENCODES a protein that exhibits DNA binding; 5'-3' DNA helicase activity (ortholog); 5'-3' RNA helicase activity (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II; neuromuscular process (ortholog); spinal cord motor neuron differentiation (ortholog); ASSOCIATED WITH A bnormal Reflexes (ortholog); autosomal dominant distal hereditary motor neuronopathy (ortholog); autosomal dominant distal hereditary motor neuronopathy 1 (ortholog); FOUND IN axon (ortholog); cytoplasm (ortholog); cytosol (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene; 2,6-dinitrotoluene | 1 | 209935922 | 209958570 | Rat | 171 | symbol , old_gene_name , PhenoGen | gene, protein-coding, PROVISIONAL [RefSeq] |
| 68450 | IGHMBP2 | immunoglobulin mu DNA binding protein 2 | 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] | 11 | 68903891 | 68940601 | Human | 489 | symbol , old_gene_name , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 68451 | Ighmbp2 | immunoglobulin mu DNA binding protein 2 | Enables several functions, including ATP hydrolysis activity; G-rich single-stranded DNA binding activity; and ribosome binding activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II; neuromuscular process; and spinal cord motor neuron differentiation. Located in several cellular components, including growth cone; neuronal cell body; and perinuclear region of cytoplasm. Part of ribonucleoprotein complex. Is expressed in several structures, including genitourinary system; heart; liver; lung; and nervous system. Used to study Charcot-Marie-Tooth disease axonal type 2S and autosomal recessive distal hereditary motor neuronopathy 1. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2S and autosomal recessive distal hereditary motor neuronopathy 1. Orthologous to human IGHMBP2 (immunoglobulin mu DNA binding protein 2). [provided by Alliance of Genome Resources, Jul 2025] | 19 | 3309076 | 3333011 | Mouse | 241 | symbol , old_gene_name , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8709668 | Ighmbp2 | immunoglobulin mu DNA binding protein 2 | ENCODES a protein that exhibits 5'-3' DNA helicase activity (ortholog); 5'-3' RNA helicase activity (ortholog); ATP binding (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); neuromuscular process (ortholog); spinal cord motor neuron differentiation (orthol og); ASSOCIATED WITH Abnormal Reflexes (ortholog); autosomal dominant distal hereditary motor neuronopathy (ortholog); autosomal dominant distal hereditary motor neuronopathy 1 (ortholog); FOUND IN axon (ortholog); cytoplasm (ortholog); cytosol (ortholog) | NW_004955422 | 17017855 | 17047724 | Chinchilla | 59 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11764805 | IGHMBP2 | immunoglobulin mu DNA binding protein 2 | ENCODES a protein that exhibits DNA binding (ortholog); G-rich single-stranded DNA binding (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); neuromuscular process (ortholog); spinal cord motor neuron differentiation (ortholog); ASSOCIATED WITH Abnormal Ref lexes (ortholog); autosomal dominant distal hereditary motor neuronopathy (ortholog); autosomal dominant distal hereditary motor neuronopathy 1 (ortholog); FOUND IN growth cone (ortholog); neuronal cell body (ortholog); perinuclear region of cytoplasm (ortholog) | 11 | 63991285 | 64028430 | Bonobo | 79 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12372647 | IGHMBP2 | immunoglobulin mu DNA binding protein 2 | ENCODES a protein that exhibits 5'-3' DNA helicase activity (ortholog); 5'-3' RNA helicase activity (ortholog); ATP hydrolysis activity (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); neuromuscular process (ortholog); spinal cord motor neuron differentia tion (ortholog); ASSOCIATED WITH Abnormal Reflexes (ortholog); autosomal dominant distal hereditary motor neuronopathy (ortholog); autosomal dominant distal hereditary motor neuronopathy 1 (ortholog); FOUND IN cytosol (ortholog); growth cone (ortholog); neuronal cell body (ortholog) | 18 | 49063748 | 49090625 | Dog | 73 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12647992 | Ighmbp2 | immunoglobulin mu DNA binding protein 2 | ENCODES a protein that exhibits DNA binding (ortholog); G-rich single-stranded DNA binding (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); neuromuscular process (ortholog); spinal cord motor neuron differentiation (ortholog); ASSOCIATED WITH Abnormal Ref lexes (ortholog); autosomal dominant distal hereditary motor neuronopathy (ortholog); autosomal dominant distal hereditary motor neuronopathy 1 (ortholog); FOUND IN growth cone (ortholog); neuronal cell body (ortholog); perinuclear region of cytoplasm (ortholog) | NW_004936599 | 1406815 | 1439764 | Squirrel | 79 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 13985832 | IGHMBP2 | immunoglobulin mu DNA binding protein 2 | ENCODES a protein that exhibits DNA binding (ortholog); G-rich single-stranded DNA binding (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); neuromuscular process (ortholog); spinal cord motor neuron differentiation (ortholog); ASSOCIATED WITH Abnormal Ref lexes (ortholog); autosomal dominant distal hereditary motor neuronopathy (ortholog); autosomal dominant distal hereditary motor neuronopathy 1 (ortholog); FOUND IN growth cone (ortholog); neuronal cell body (ortholog); perinuclear region of cytoplasm (ortholog) | | | | Pig | 80 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 284167414 | ighmbp2 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 18648566 | IGHMBP2 | immunoglobulin mu DNA binding protein 2 | ENCODES a protein that exhibits DNA binding (ortholog); G-rich single-stranded DNA binding (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); neuromuscular process (ortholog); spinal cord motor neuron differentiation (ortholog); ASSOCIATED WITH Abnormal Ref lexes (ortholog); autosomal dominant distal hereditary motor neuronopathy (ortholog); autosomal dominant distal hereditary motor neuronopathy 1 (ortholog); FOUND IN growth cone (ortholog); neuronal cell body (ortholog); perinuclear region of cytoplasm (ortholog) | | | | Green Monkey | 79 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 626003754 | Ighmbp2 | immunoglobulin mu DNA binding protein 2 | ENCODES a protein that exhibits 5'-3' DNA helicase activity (ortholog); 5'-3' RNA helicase activity (ortholog); ATP binding (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); neuromuscular process (ortholog); spinal cord motor neuron differentiation (orthol og); ASSOCIATED WITH Abnormal Reflexes (ortholog); autosomal dominant distal hereditary motor neuronopathy (ortholog); autosomal dominant distal hereditary motor neuronopathy 1 (ortholog); FOUND IN axon (ortholog); cytoplasm (ortholog); cytosol (ortholog) | | | | Black Rat | 54 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18908185 | Ighmbp2 | immunoglobulin mu DNA binding protein 2 | ENCODES a protein that exhibits 5'-3' RNA helicase activity (ortholog); ATP hydrolysis activity (ortholog); ATP-dependent activity, acting on DNA (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); neuromuscular process (ortholog); spinal cord motor neuron d ifferentiation (ortholog); ASSOCIATED WITH Abnormal Reflexes (ortholog); autosomal dominant distal hereditary motor neuronopathy (ortholog); autosomal dominant distal hereditary motor neuronopathy 1 (ortholog); FOUND IN cytosol (ortholog); growth cone (ortholog); neuronal cell body (ortholog) | | | | Naked Mole-Rat | 75 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 284168664 | ighmbp2.L | | | | | | African Clawed Frog | | symbol | gene, null |