Gene

IGHMBP2

immunoglobulin mu DNA binding protein 2

Cytogenetic location: 11q13.3
Coordinates: Chromosome 11: 68,903,891–68,940,601 (GRCh38)
Exons: 15 exons across 36.7 kb
Protein: 993 amino acids
Also known as: ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6, CMT2S
MANE Select transcript: ENST00000255078.8NM_002180.3
Locus type: gene with protein product

Very high
Confident
Low
Very low

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

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Curated reports relevant to this gene

Charcot-Marie-Tooth Disease
- Distal Hereditary Motor Neuropathy
  Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.
  - 4 GenCC submitters rate it definitive or strong
- One of 62 genes linked to it
  A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.
  - 3 GenCC submitters rate it definitive or strong
  What knowing changes
  Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features
Spinal Muscular Atrophy
- A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.
  - 4 GenCC submitters rate it definitive or strong
  What knowing changes
  Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

How IGHMBP2 is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.9 kb of the gene's 36.7 kb; 2,982 of those bases code for the protein.

How a genome test reads IGHMBP2

157

positions in IGHMBP2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 36.7 kb of IGHMBP2, introns included, not only the 3.9 kb of exons.

Traits linked to IGHMBP2

The Human Phenotype Ontology lists these as features of the rare conditions IGHMBP2 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the musculoskeletal system

Show 3 more traits

Abnormality of the nervous system

Show 1 more trait

Peripheral axonal degeneration

Abnormality of limbs

Abnormality of the respiratory system

Growth abnormality

Abnormality of prenatal development or birth

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). IGHMBP2 gene: immunoglobulin mu DNA binding protein 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/ighmbp2

Vancouver

Dante Labs. IGHMBP2 gene: immunoglobulin mu DNA binding protein 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ighmbp2

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