Table 1. Known disease-associated genes within the 3q13.31-22.1 deletion region.
Genomic coordinates provided refer to the start of the annotated transcript, according to the hg-19 coordinates.
| Genomic Location (hg19) | Band | Gene Symbols | Gene Name | OMIM Number | Phenotype Association (inheritance pattern and details if known) |
|---|---|---|---|---|---|
| 3:118,892,424 | 3q13.3 | UPK1B | Uroplakin 1B | 602380 | Candidate gene for vesicoureteral reflux disease (unknown) |
| 3:119,013,219 | 3q13.3 | ARHGAP31 | Rho GTPase-activating protein 31 | 610911 | Adams-Oliver syndrome (AD, scalp and distal limb reduction defects) |
| 3:120,347,014 | 3q13.3 | HGD | Homogentisate 1,2-dioxygenase | 607474 | Alkaptonuria (AR) |
| 3:121,488,609 | 3q13.3 | IQCB1 | Nephrocystin 5 | 609237 | Senior-Loken syndrome (AR, nephronophthisis and retinitis pigmentosa) |
| 3:121,706,169 | 3q13.3 | ILDR1 | Ig-like domain-containing receptor 1 | 609739 | Deafness (AR) |
| 3:121,902,529 | 3q13.3 | CASR | Calcium-sensing receptor | 601199 | Familial hypocalciuric hypercalcemia (AD), hypocalcemia (AD) |
| 3:122,044,010 | 3q21 | CSTA | Cystatin A (stefin A) | 184600 | Exfoliative ichthyosis, ichthyosis bullosa of Siemens-like (AR) |
| 3:122,513,900 | 3q21 | DIRC2 | Disrupted in renal carcinoma 2 | 602773 | Renal cell carcinoma (AD) |
| 3:123,001,142 | 3q21 | ADCY5 | Adenylate cyclase-5 | 600293 | Familial dyskinesia with facial myokymia (AD) |
| 3:123,331,142 | 3q21 | MYLK | Myosin-light-polypeptide kinase | 600922 | Familial thoracic aortic aneurysm (AD) |
| 3:124,449,212 | 3q21 | UMPS | Uridine monophosphate synthetase | 613891 | Orotic aciduria (AR, megaloblastic anemia and orotic acid crystalluria) |
| 3:126,200,007 | 3q21 | UROC1 | Urocanase domain-containing protein 1 | 613012 | Urocanase deficiency (AR, behavioral and neurological symptoms) |
| 3:128,198,264 | 3q21 | GATA2 | GATA-binding protein-2 | 137295 | Dendritic cell, monocyte, B cell and NK lymphocyte deficiency; Emberger syndrome |
| 3:128,444,978 | 3q21 | RAB7 | Ras-associated protein RAB7 | 602298 | Charcot-Marie-Tooth disease, type 2B (AD) |
| 3:128,598,332 | 3q21 | ACAD9 | Acyl-CoA dehydrogenase family member 9 | 611103 | ACAD9 deficiency (AR) |
| 3:128,779,644 | 3q21 | GP9 | Glycoprotein IX, platelet | 173515 | Bernard-Soulier syndrome, type C (AR) |
| 3:128,886,657 | 3q21 | ZNF9 | Zinc finger protein-9 | 116955 | Myotonic dystrophy 2 (AD, microsatellite expansion) |
| 3:129,158,967 | 3q21 | IFT122 | Intraflagellar transport 122, homolog of | 606045 | Cranioectodermal dysplasia 1 (AR, ciliopathy with systemic manifestations) |
| 3:129,247,481 | 3q22 | RHO | Rhodopsin (opsin 2) | 180380 | Congenital night blindness (AD and AR, retinitis pigmentosa) |
| 3:129,693,113 | 3q22 | TRH | Thyrotropin-releasing hormone | 613879 | Thyrotropin-releasing hormone deficiency (unknown) |
| 3:130,569,368 | 3q22 | ATP2C1 | ATPase, Ca(2+)-sequestering | 604384 | Hailey-Hailey disease (AD, blistering skin disorder) |
| 3:131,181,044 | 3q22 | MRPL3 | Mitochondrial ribosomal protein L3 | 607118 | Combined oxidative phosphorylation deficiency (AR) |
1 deletion region. AR: autosomal recessive; AD: autosomal dominant