Gene
SH3PXD2B
SH3 and PX domains 2B
- HGNC 29242↗(opens in a new tab)
- Ensembl gene ENSG00000174705↗(opens in a new tab)
- NCBI Gene 285590↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q35.1
- Coordinates
- Chromosome 5: 172,333,499–172,454,525 (GRCh38)
- Exons
- 13 exons across 121 kb
- Protein
- 911 amino acids
- Also known as
- FLJ20831
- Previous symbols
- KIAA1295
- MANE Select transcript
- ENST00000311601.6NM_001017995.3
- 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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Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads SH3PXD2B yet. The test sequences your whole genome, so your data includes it all the same.
How SH3PXD2B 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 7.8 kb of the gene's 121 kb; 2,736 of those bases code for the protein.
How a genome test reads SH3PXD2B
4
positions in SH3PXD2B 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 121 kb of SH3PXD2B, introns included, not only the 7.8 kb of exons.
Traits linked to SH3PXD2B
The Human Phenotype Ontology lists these as features of the rare conditions SH3PXD2B can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Broad nasal tip
- Coarse facial features
- Depressed nasal bridge
- Downward slanting of the opening between the eyelids
- Enlarged cisterna magna
- Full cheeks
- Redundant neck skin
- Thin red part of the upper lip
Show 21 more traits
- Wide mouth
- Wider-than-typical soft spot of skull
- Full lips
- Little lower jaw
- Prominent forehead
- Short philtrum
- Wide nasal bridge
- Big lower jaw
- Broad forehead
- Broad head shape
- Delayed eruption of teeth
- Early tooth loss
- Gum enlargement
- High forehead
- Nasal tip, upturned
- Wide gum ridges
- Bad bite
- Delayed cranial suture closure
- Extra bones within cranial sutures
- Flat back of skull
- High palate
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). SH3PXD2B gene: SH3 and PX domains 2B. Retrieved 17 October 2026, from https://dantelabs.com/genes/sh3pxd2b
Dante Labs. SH3PXD2B gene: SH3 and PX domains 2B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sh3pxd2b
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