Table 2: OMIM genes that lie in the 12q14 interval bounded by USP15 and MSRB3.

GeneOMIMDescription

USP15604731USP15 is required for TGFB and BMP responses in both mammalian cells and frog embryos. The USP15 gene encodes for a deubiquitinating enzyme. Animal models have shown that it regulates bone morphogenetic signalling during embryogenesis [10].

PPM1H 616016Knockdown of PPM1H significantly increases proliferation in BT474 breast cancer cells [11].

AVPR1A 600821The AVPR1A gene encodes for a receptor that is involved in vasopressin signalling, which is involved in behavioural responses, including stress management and territorial aggression as well as social bonding and recognition [12].

DPY19L2 613893DPY19L2 represents the major gene causing globozoospermia [13].

TMEM5 605862The TMEM5 gene encodes for a type II membrane protein of unknown function, but mutations have been associated with gonadal dysgenesis, neural tube defects, and most recently being a cause of severe cobblestone lissencephaly [14].

SRGAP1 606523SRGAP1 interacts with Roundabout transmembrane receptors, together with SLIT proteins, which guide neuronal and leukocyte migration [15].

XPOT 603180Exportin-t is a specific mediator of tRNA export [16, 17].

TBK1 604834TBK1 is a binding partner for optineurin [18].

RASSF3 607019The RASSF3 gene encodes for a putative tumor suppressor [19].

GNS 607664The GNS gene encodes for N-acetylglucosamine-6-sulfatase, which is required for degradation of heparin sulphate. Homozygous mutations in this gene have been shown to be the cause of mucopolysaccharidosis type IIID [20].

TBC1D30 615077TBC1D30 protein is predicted to be involved in cell signalling [21].

WIF1 605186WIF1 binds to WNT proteins and inhibits their extracellular signaling involved in the control of embryonic development [22].

LEMD3607844LEMD3 is involved in both BMP and TGF-beta signalling. Heterozygous loss-of-function mutations in the LEMD3 gene are implicated in Osteopoikilosis and the associated Buschke-Ollendorff syndrome [8].

MRSB3 613719The MSRB3 gene encodes for methioinine sulfoxide reductase. Homozygous mutations in this gene are associated with a form of autosomal recessive, nonsyndromic deafness [23].

Those genes in bold italics are implicated in bone morphogenesis.
TGFB: Transforming Growth Factor Beta.
BMP: Bone Morphogenetic Protein.