Location |
Symbol |
Title |
MIM # |
Disorder |
Comments |
Method |
Mouse |
2q13 |
NPHP1, NPH1, SLSN1, JBTS4 |
Nephrocystin |
607100 |
Nephronophthisis, juvenile, 256100 (3); Senior-Loken syndrome-1,266900 (3); Joubert syndrome 4, 609583 (3) |
|
Fd |
|
2q13 |
RABL2A |
RAB-like 2A |
605412 |
|
|
A |
|
1q13 |
SEPT10 |
Septin 10 |
611737 |
|
pseudogene on 8q22.1-q12 |
REc |
|
2q13 |
TTL |
Tubulin-tyrosine ligase |
608291 |
|
|
REc |
2(Ttl) |
2q13-q14 |
PROC, PC |
Protein C (inactivator of coagulation factors Va and VIIIa) |
612283 |
Thrombophilia due to protein C deficiency, autosomal dominant,176860 (3); Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3) |
|
REa, A |
|
2q13-q14.1 |
CBWD2 |
Cobalamin synthetase W domain-containing protein 2 |
611079 |
|
|
REc |
|
2q13-q14.1 |
FOXD4L1 |
Forkhead box D4-like 1 |
611084 |
|
|
REc |
|
2q13-q21 |
EN1 |
Engrailed-1 |
131290 |
|
|
REa |
1(En1) |
2q14 |
BIN1, AMPHL |
Box-dependent MYC-interacting protein-1 (amphiphysin-like) |
601248 |
Myopathy, centronuclear, autosomal recessive, 255200 (3) |
|
Psh, A |
18(Bin1) |
2q14 |
BUB1 |
Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of (mitotic checkpoint gene BUB1) |
602452 |
Colorectal cancer with chromosomal instability (3) |
|
A, R |
2(Bub1) |
2q14 |
EPB41L5, KIAA1548 |
Erythrocyte membrane protein band 4.1-like 5 |
611730 |
|
|
R, REn |
|
2q14 |
HMN7A, DHMNVP |
Motor neuronopathy, distal hereditary, type VIIA |
158580 |
Motor neuronopathy, distal hereditary, with vocal cord paralysis (2) |
|
Fd |
|
2q14 |
GLI2, HPE9 |
GLI-Kruppel family member GLI2 (oncogene GLI2) |
165230 |
Pituitary anomalies with holoprosencephaly-like features (3);Holoprosencephaly-9, 610829 (3) |
|
REa, A |
|
2q14 |
IL1A |
Interleukin-1, alpha |
147760 |
|
within 430kb of IL1B, IL1RN |
H, REa, A |
2(Il1a) |
2q14 |
IL1B |
Interleukin-1, beta |
147720 |
{Gastric cancer risk after H. pylori infection}, 137215 (3) |
within 430kb of IL1RN, IL1A |
REa, A, H |
2(Il1b) |
2q14 |
TFCP2L1, CRTR1, LBP9 |
Transcription factor CP2-like 1 |
609785 |
|
|
R, REc |
|
2q14 |
WDR92, LOC116143, MONAD |
WD repeat domain-containing protein 92 |
610729 |
|
|
R, REc |
|
2q14-q21 |
GYPC, GE, GPC |
Glycophorin C (Gerbich blood group) |
110750 |
{Malaria, resistance to}, 611162 (3); [Blood group, Gerbich] (3) |
|
A |
|
2q14-q21 |
LCO |
Liver cancer oncogene |
165320 |
?Hepatocellular carcinoma (1) |
|
REa, REb, A |
|
2q14-q21 |
RAB6A, RAB6 |
Oncogene RAB6 |
179513 |
|
|
A |
|
2q14-q21 |
VIS1, HIS1 |
Viral integration site 1 |
164755 |
|
|
A |
2(His1) |