Location |
Symbol |
Title |
MIM # |
Disorder |
Comments |
Method |
Mouse |
12q21.1 |
CSRP2, LMO5 |
Cysteine and glycine-rich protein-2 (LIM domain only 5, smooth muscle) |
601871 |
|
pseudogene on 3q21.1 |
A, R |
|
12q21.1 |
NAV3, POMFIl1, KIAA0938 |
Neuron navigator 3 |
611629 |
|
|
R, REc |
|
12q21.1 |
RAB21, KIAA0118 |
RAB-associated protein RAB21 |
612398 |
|
|
R, REc |
|
12q21.1 |
THAP2 |
THAP domain-containing protein 2 |
612531 |
|
|
REc |
|
12q21.1 |
TPH2, NTPH |
Tryptophan hydroxylase 2 |
607478 |
{Unipolar depression, susceptibility to}, 608516 (3) |
|
REc |
|
12q21.1-q21.3 |
MRPS35, MRPS28 |
Mitochondrial ribosomal protein S35 |
611995 |
|
3 pseudogenes |
REc |
|
12q21.2 |
BBS10, C12orf58, FLJ23560 |
BBS10 gene |
610148 |
Bardet-Biedel syndrome 10, 209900 (3) |
|
REc, Fd |
|
12q21.2 |
NAP1L1, NAP1L |
Nucleosome assembly protein 1-like 1 |
164060 |
|
|
R, REc |
|
12q21.2 |
PTPRQ, PTPGMC1 |
Protein-tyrosine phosphatase, receptor-type, Q |
603317 |
|
|
A, REc |
10(Ptpgmc1) |
12q21.3 |
CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 |
Centrosomal protein, 290kD |
610142 |
Joubert syndrome 5, 610188 (3); Senior-Loken syndrome 6, 610189 (3);Leber congenital amaurosis, type X, 611755 (3); Meckel syndrome type 4, 611134 (3); Bardet-Biedl syndrome 14, 209900 (3) |
|
R, REc, Fd |
|
12q21.3 |
DCN, CSCD |
Decorin |
125255 |
Corneal dystrophy, congenital stromal, 610048 (3) |
conflicting assignments to 12q23 and 12q13.2 |
REa, A |
10(Dcn) |
12q21.3 |
E2F7 |
E2F transcription factor 7 |
612046 |
|
|
REc |
10(E2f7) |
12q21.3-q22 |
CART1 |
Cartilage homeoprotein 1 |
601527 |
|
|
REa, REc |
|
12q21.3-q22 |
GALNT4, GalNAcT4 |
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 |
603565 |
|
|
A, Fd |
|
12q21.3-q22 |
LUM, LDC |
Lumican |
600616 |
|
|
A, Psh |
10(Ldc) |
12q21.31 |
MLXIP, MONDOA, KIAA0867 |
MLX-interacting protein |
608090 |
|
|
R, A |
|
12q21.33-q23.1 |
CRADD, RAIDD |
Caspase and RIP adaptor with death domain |
603454 |
|
|
R |
10(Raidd) |
12q22 |
BTG1 |
B-cell translocation gene 1, anti-proliferative |
109580 |
|
|
Ch |
|
12q22 |
KERA, CNA2 |
Keratocan |
603288 |
Cornea plana congenita, recessive, 217300 (3) |
|
H, Fd, LD, A |
10(Kera) |
12q22 |
KITLG, MGF, SF, SCF, SHEP7 |
KIT ligand (mast cell growth factor; steel, mouse, homolog of) |
184745 |
[Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3) |
associated with dbSNP rs12821256 |
REa, A |
10(Sl; Scf) |
12q22 |
LTA4H |
Leukotriene A4 hydrolase |
151570 |
|
|
A |
|