Table 2.

Coding genes included in 8p23.2-pter region.

Human Gene Symbol/OMIM Entry	Gene Full Name	Main Biological Activity	Reference	OMIM Disease Association	pLI Score
OR4F21	Olfactory receptor family 4 subfamily F member 21	Olfactory receptor	np	np	np
ZNF596	Zinc finger protein 596	Transcriptional regulation	np	np	0
FBXO25 / *609098	F-box protein 25	Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex.	[24]	np	0
TDRP	Testis development related protein	Contributes to normal sperm motility	[26]	np	0
ERICH1	Glutamate-rich 1	Unknown	np	np	0
DLGAP2 /*605438	Discs, large (Drosophila) homolog-associated protein 2	Role in the molecular organization of synapses and neuronal cell signaling. Adapter protein linking ion channel to the sub-synaptic cytoskeleton	[16]	np	1
CLN8 /*607837	Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	Lipid synthesis, transport, or sensing	[23]	Ceroid lipofuscinosis 8, AR (# 600143) Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, AR (# 610003)	0
ARHGEF10 / *608136	Rho guanine nucleotide exchange factor (GEF) 10	Membrane trafficking and neural morphogenesis	[14,15]	?Slowed nerve conduction velocity, AD (# 608236)	0
KBTBD11 /*618794	Kelch repeat and BTB (POZ) domain containing 11	Protein degradation, thereby affecting differentiation, homeostasis, metabolism, cell signaling, and oxidative stress response	[25]	np	0.06
MYOM2 /*603509	Myomesin 2	Major component of the vertebrate myofibrillar M band	[27]	np	0
CSMD1 /*608397	CUB and Sushi multiple domains 1	Role in central nervous system development	[12]	np	1

Gene symbol, OMIM entry, full name, main known biological activity and relative reference, OMIM disease association if applicable and pLI (probability of a gene being intolerant to variation causing loss of gene function) score from GnomAD are reported. “np” stands for: not present [17,21].