HGMD
The Human Gene Mutation Database

at the Institute of Medical Genetics in Cardiff

BioBase
Symbol:

Newly added genes

Gene symbolGene descriptionLocation
ACACBAcetyl-Coenzyme A carboxylase beta12q24.11
ADAM33ADAM metallopeptidase domain 3320p13
ADAM7ADAM metallopeptidase domain 78p21.2
ARHGAP9Rho GTPase activating protein 912q14
ARSFArylsulfatase FXp22.3
ASMTLAcetylserotonin O-methyltransferase-likeXp22.3; Yp11.3
ATXN3LAtaxin 3-likeXp22.2
BACE1Beta-site APP-cleaving enzyme 111q23.2-q23.3
BEX4Brain expressed, X-linked 4Xq22.1-q22.3
C10orf11Chromosome 10 open reading frame 1110q22.2-q22.3
C16orf57Chromosome 16 open reading frame 5716q21
CCR3Chemokine (C-C motif) receptor 33p21.3
CIDECCell death-inducing DFFA-like effector c3p25.3
CLEC11AC-type lectin domain family 11, member A19q13.3
DDX11DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homologue, S. cerevisiae)12p11
DHODHDihydroorotate dehydrogenase16q22
DKK2Dickkopf homolog 2 (Xenopus laevis)4q25
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2p23
DRP2Dystrophin related protein 2Xq22
EPC2Enhancer of polycomb homologue 2 (Drosophila)2q23.1
ETS1v-ets erythroblastosis virus E26 oncogene homologue 1 (avian)11q23.3
FAM47BFamily with sequence similarity 47, member BXp21.1
GABRR2Gamma-aminobutyric acid (GABA) receptor, rho 26q13-q16.3
GLUD2Glutamate dehydrogenase 2Xq24-q25
GP2Glycoprotein 2 (zymogen granule membrane)16p12
GRXCR1Glutaredoxin, cysteine rich 14p13
H2BFWTH2B histone family, member W, testis-specificXq22.2
hk1eHexokinase 1, erythroid-specific10q22
HSPA8Heat shock 70kDa protein 811q24.1
HSPA9Heat shock 70kDa protein 9 (mortalin)5q31.1
HSPB3Heat shock 27kDa protein 35q11.2
IDEInsulin-degrading enzyme10q23-q25
IL20RAInterleukin 20 receptor, alpha6q22.33-q23.1
IL31RAInterleukin 31 receptor A5q11.2
IL9RInterleukin 9 receptorXq28 and Yq12
INF2Inverted formin, FH2 and WH2 domain containing14q32.33
ITIH5LInter-alpha (globulin) inhibitor H5-likeXp11.22-p11.21
KRT6CKeratin 6C12q13.13
LAMA5Laminin, alpha 520q13.2-q13.3
LIMK1LIM domain kinase 17q11.23
LUMLumican12q21.3-q22
MAP3K15Mitogen-activated protein kinase kinase kinase 15Xp22.12
MAP7D3MAP7 domain containing 3Xq26.3
MAVSMitochondrial antiviral signaling protein20p13
MEF2CMyocyte enhancer factor 2C5q14
MIIPMigration and invasion inhibitory protein1p36.22
MIR191microRNA 1913p21.31
MRC1Mannose receptor, C type 110p12.33
MUC1Mucin 1, cell surface associated1q21
NCSTNNicastrin1q22-q23
nos1e1cNitric oxide synthase 1 (neuronal), alternative exon 1c12q24.2-q24.31
NTHL1Nth endonuclease III-like 1 (E. coli)16p13.3
ORC4Origin recognition complex, subunit 42q22-q23
P2RY4Pyrimidinergic receptor P2Y, G-protein coupled, 4Xq13
PARLPresenilin associated, rhomboid-like3q27.1
PLA2G2DPhospholipase A2, group IID1p36.12
QKIQuaking homologue, KH domain RNA binding (mouse)6q26-q27
RAB39BRAB39B, member RAS oncogene familyXq28
RIMS3Regulating synaptic membrane exocytosis 31pter-p22.2
RNF113ARing finger protein 113AXq25-q26
rpgr11aRetinitis pigmentosa GTPase regulator (exon 11a)Xp11.4
RPS10Ribosomal protein S106p21.31
RPS26Ribosomal protein S2612q13
SAGE1Sarcoma antigen 1Xq26
SATL1Spermidine/spermine N1-acetyl transferase-like 1Xq21.1
SH2B1SH2B adaptor protein 116p11.2
SH3PXD2BSH3 and PX domains 2B5q35.1
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419p13.2
ST5Suppression of tumorigenicity 511p15
SYTL5Synaptotagmin-like 5Xp21.1
TMCO1Transmembrane and coiled-coil domains 11q22-q25
TMEM187Transmembrane protein 187Xq28
TMEM216Transmembrane protein 21611q13.1
TNRTenascin R (restrictin, janusin)1q24
TRIM22Tripartite motif-containing 2211p15
TRIP11Thyroid hormone receptor interactor 1114q31-q32
TSPAN12Tetraspanin 127q31.31
TUBB3Tubulin, beta 316q24.3
UBE2NLUbiquitin-conjugating enzyme E2N-likeXq27.3
USP9XUbiquitin specific peptidase 9, X-linkedXp11.4
VSIG4V-set and immunoglobulin domain containing 4Xq12-q13.3
WDFY4WDFY family member 410q11.22-q11.23
ZCCHC13Zinc finger, CCHC domain containing 13Xq13.2

Please note that genes will remain on this page for approximately 3 months.


Designed by P.D.Stenson HGMD®
Copyright © Cardiff University 2013