Table 1.
Genes of the human Y chromosome PAR1, PAR2, and NRY.
| Gene symbol | Location | Gene name | Associate pathology/function | X-homologs | Reference |
| CSFR2Rα | PAR1 | GM-CSF receptor α subunit | unknown | + | Disteche et al. 1992 [19] |
| SHOX | " | Short stature homebox-containing | short stature, Lerf-Weill syndrome | + | Rao et al. 1997 [20] |
| IL3RA | " | Interleukin-3 receptor α subunit | unknown | + | Ellison et al. 1996 [21] |
| ANT3 | " | Adenine nucleotide translocase | unknown | + | Shiebel et al. 1993 [22] |
| ASMTL | " | Acetylserotonine methyltransferase-like | unknown | + | Ried et al. 1998 [23] |
| ASMT | " | Acetylserotonine methyltransferase | unknown | + | Rappold 1993 [24] |
| XE7 | " | X-escapee | unknown | + | Ellison et al. 1996 [21] |
| PGPL | " | Pseudoautosomal GTP-binding protein-like | unknown | + | Gianfrancesco et al. 1998 [25] |
| MIC2 | " | unknown | + | Goodfellow et al. 1988 [26] | |
| SRY★ | Yp: 1A1A | Sex Reversal Y | Sex reversal | − | Sinclair et al. 1990 [2] |
| RPS4Y | Yp: 1A1B | Ribosomal protein S4, Y | Turner syndrome? | + | Fisher et al. 1990 [14] |
| ZFY | Yp: 1A2 | Zinc-finger Y | Turner syndrome? | + | Page et al. 1987 [13] |
| PRKY | Yp: 3C-4A | protein kinase, Y | unknown | + | Schiebel et al. 1997 [27] |
| TTY1★ | Yp: 4A | testis transcript, Y1 | unknown | − | Reijo et al. 1995 [17] |
| TSPY★ | Yp: 3C + 5 | testis-specific protein, Y | gonadoblastoma? | − | Arnemann et al. 1987 [12] |
| AMELY | Yp: 4A | Amelogenin, Y | unknown | + | Nakahori et al. 1991 [28] |
| PRY★ | Y: 4A, 6E | putative tyrosine phosphatase protein-related Y | infertility? | + | Reijo et al. 1995 [17] |
| TTY2★ | Y: 4A, 6C | testis transcript, Y2 | unknown | − | Reijo et al. 1995 [17] |
| USP9Y (or DFFRY) | Yq: 5C | ubiquitin-specific protease (or Drosophila fat-facets related, Y) | azoospermia? | + | Lahn and Page 1997 [3] |
| DBY | Yq: 5C | DEAD box, Y | infertility? | + | Lahn and Page 1997 [3] |
| UTY | Yq: 5C | Ubitiquitous TRY motif, Y | infertility | + | Lahn and Page 1997 [3] |
| TB4Y | Yq: 5D | Thymosin ?4, Y isoform | infertility | + | Lahn and Page 1997 [3] |
| BPY1★ | Yq: 5G | basic protein, Y1 | Turner? | + | Reijo et al. 1995 [17] |
| CDY | Yq: 5L, 6F | chromodomain, Y | infertility? | − | Lahn and Page 1997 [3] |
| XKRY★ | Yq: 5L | XK-related, Y | infertility? | − | Reijo et al. 1995 [17] |
| RBM★ | Yp + q | RNA-binding motif, Y | infertility? | − | Ma et al. 1993 [15] |
| SMCY | Yq: 5P | Selected Mouse cDNA, Y | unknown | + | Agulnik et al. 1994 [16] |
| EIF1AY | Yq: 5Q | Translation initiation factor 1A, Y | infertility? | + | Lahn and Page 1997 [3] |
| DAZ★ | Yq: 6F | Deleted in azoospermia | infertility? | − | Reijo et al. 1995 [17] |
| VCY2 | Yq: 6A | variably charged protein, Y2 | infertility | − | Reijo et al. 1995 [17] |
| IL9R | PAR2 | Interleukin 9 receptor | unknown | + | Vermeesh et al. 1997 [29] |
| SYBL1 | " | Synaptobrevin-like 1 | unknown | + | Kermouni et al. 1995 [30] |
| HSPRY3 | " | Human-sprouty 3 | unknown | + | Ciccododicola et al. 2000 [31] |
| CXYorf1 | " | CXYorf1 | unknown | + | Ciccododicola et al. 2000 [31] |
★Testis-specific genes or families.
Note: All genes expressed specifically in the testis are present in multiple copies dispersed throughout the euchromatic portion of the Y chromosome. Exceptional is SRY, which is expressed specifically in the testis but present in single copy.