| Symbol |
Name |
|
ACHE
|
acetylcholinesterase (Yt blood group)
|
|
AGTR2
|
angiotensin II receptor, type 2
|
|
AHNAK
|
AHNAK nucleoprotein
|
|
AMPD1
|
adenosine monophosphate deaminase 1
|
|
ANO5
|
anoctamin 5
|
|
ANXA1
|
annexin A1
|
|
ANXA2
|
annexin A2
|
|
APOE
|
apolipoprotein E
|
|
AQP1
|
aquaporin 1 (Colton blood group)
|
|
AQP4
|
aquaporin 4
|
|
AR
|
androgen receptor
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B4GALNT2
|
beta-1,4-N-acetyl-galactosaminyl transferase 2
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCL2L1
|
BCL2-like 1
|
|
BCLAF1
|
BCL2-associated transcription factor 1
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
CAPN1
|
calpain 1, (mu/I) large subunit
|
|
CAPN2
|
calpain 2, (m/II) large subunit
|
|
CAPN3
|
calpain 3, (p94)
|
|
CAV3
|
caveolin 3
|
|
CFLAR
|
CASP8 and FADD-like apoptosis regulator
|
|
CHKB
|
choline kinase beta
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CMD1B
|
cardiomyopathy, dilated 1B (autosomal dominant)
|
|
CMYA5
|
cardiomyopathy associated 5
|
|
CNDP1
|
carnosine dipeptidase 1 (metallopeptidase M20 family)
|
|
CNTFR
|
ciliary neurotrophic factor receptor
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COPA
|
coatomer protein complex, subunit alpha
|
|
CRYM
|
crystallin, mu
|
|
CTGF
|
connective tissue growth factor
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DDX20
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 20
|
|
DES
|
desmin
|
|
DMD
|
dystrophin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAJA1
|
DnaJ (Hsp40) homolog, subfamily A, member 1
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DOK7
|
docking protein 7
|
|
DPP6
|
dipeptidyl-peptidase 6
|
|
DTNA
|
dystrobrevin, alpha
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
DUX4
|
double homeobox 4
|
|
DUX4L1
|
double homeobox 4 like 1
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EDN1
|
endothelin 1
|
|
EDN3
|
endothelin 3
|
|
EMD
|
emerin
|
|
EPB41
|
erythrocyte membrane protein band 4.1
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNC
|
filamin C, gamma
|
|
FMR1
|
fragile X mental retardation 1
|
|
FN1
|
fibronectin 1
|
|
FRG1
|
FSHD region gene 1
|
|
FRG2
|
FSHD region gene 2
|
|
FSHMD1A
|
facioscapulohumeral muscular dystrophy 1A
|
|
FST
|
follistatin
|
|
FUS
|
FUS RNA binding protein
|
|
FXR1
|
fragile X mental retardation, autosomal homolog 1
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GEMIN2
|
gem (nuclear organelle) associated protein 2
|
|
GEMIN4
|
gem (nuclear organelle) associated protein 4
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GPC1
|
glypican 1
|
|
GTF2H2
|
general transcription factor IIH, polypeptide 2, 44kDa
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HNRNPA1
|
heterogeneous nuclear ribonucleoprotein A1
|
|
HNRNPA2B1
|
heterogeneous nuclear ribonucleoprotein A2/B1
|
|
HNRNPDL
|
heterogeneous nuclear ribonucleoprotein D-like
|
|
HNRNPM
|
heterogeneous nuclear ribonucleoprotein M
|
|
HSP90AA1
|
heat shock protein 90kDa alpha (cytosolic), class A member 1
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IL17A
|
interleukin 17A
|
|
IL6
|
interleukin 6
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA7
|
integrin, alpha 7
|
|
ITIH4
|
inter-alpha-trypsin inhibitor heavy chain family, member 4
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KDSR
|
3-ketodihydrosphingosine reductase
|
|
KLF7
|
Kruppel-like factor 7 (ubiquitous)
|
|
KTN1
|
kinectin 1 (kinesin receptor)
|
|
LAMA2
|
laminin, alpha 2
|
|
LIAS
|
lipoic acid synthetase
|
|
LMNA
|
lamin A/C
|
|
LOC647859
|
occludin pseudogene
|
|
LPIN1
|
lipin 1
|
|
LPIN2
|
lipin 2
|
|
LPIN3
|
lipin 3
|
|
LTB
|
lymphotoxin beta (TNF superfamily, member 3)
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
MATR3
|
matrin 3
|
|
MIR206
|
microRNA 206
|
|
MIR9-1
|
microRNA 9-1
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MPZ
|
myelin protein zero
|
|
MSH2
|
mutS homolog 2
|
|
MSTN
|
myostatin
|
|
MYF5
|
myogenic factor 5
|
|
MYOT
|
myotilin
|
|
MYOZ1
|
myozenin 1
|
|
NAIP
|
NLR family, apoptosis inhibitory protein
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NFKB1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
|
NOLC1
|
nucleolar and coiled-body phosphoprotein 1
|
|
NPPA
|
natriuretic peptide A
|
|
NPY
|
neuropeptide Y
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NTS
|
neurotensin
|
|
OBSL1
|
obscurin-like 1
|
|
OCLN
|
occludin
|
|
OPTN
|
optineurin
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
PABPC1P2
|
poly(A) binding protein, cytoplasmic 1 pseudogene 2
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PAMR1
|
peptidase domain containing associated with muscle regeneration 1
|
|
PARP1
|
poly (ADP-ribose) polymerase 1
|
|
PITX2
|
paired-like homeodomain 2
|
|
PLEC
|
plectin
|
|
PLIN2
|
perilipin 2
|
|
PLIN5
|
perilipin 5
|
|
PLS3
|
plastin 3
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRL
|
prolactin
|
|
PROM1
|
prominin 1
|
|
PTRF
|
polymerase I and transcript release factor
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RB1CC1
|
RB1-inducible coiled-coil 1
|
|
RBCK1
|
RanBP-type and C3HC4-type zinc finger containing 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SAR1B
|
secretion associated, Ras related GTPase 1B
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDC3
|
syndecan 3
|
|
SEPN1
|
selenoprotein N, 1
|
|
SERF1A
|
small EDRK-rich factor 1A (telomeric)
|
|
SETX
|
senataxin
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCB
|
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SHH
|
sonic hedgehog
|
|
SHOX
|
short stature homeobox
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC25A3
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC2A4
|
solute carrier family 2 (facilitated glucose transporter), member 4
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SMG8
|
SMG8 nonsense mediated mRNA decay factor
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNTA1
|
syntrophin, alpha 1
|
|
SPATA18
|
spermatogenesis associated 18
|
|
SPP1
|
secreted phosphoprotein 1
|
|
SSPN
|
sarcospan
|
|
ST3GAL3
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
|
|
STAT5A
|
signal transducer and activator of transcription 5A
|
|
STIM1
|
stromal interaction molecule 1
|
|
SYNC
|
syncoilin, intermediate filament protein
|
|
SYNCRIP
|
synaptotagmin binding, cytoplasmic RNA interacting protein
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
SYNM
|
synemin, intermediate filament protein
|
|
SYTL2
|
synaptotagmin-like 2
|
|
TARDBP
|
TAR DNA binding protein
|
|
TCAP
|
titin-cap
|
|
TERF1
|
telomeric repeat binding factor (NIMA-interacting) 1
|
|
TFEB
|
transcription factor EB
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM2
|
transglutaminase 2
|
|
TIMP1
|
TIMP metallopeptidase inhibitor 1
|
|
TIMP2
|
TIMP metallopeptidase inhibitor 2
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMEM70
|
transmembrane protein 70
|
|
TNPO3
|
transportin 3
|
|
TP53
|
tumor protein p53
|
|
TRA2B
|
transformer 2 beta homolog (Drosophila)
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPV2
|
transient receptor potential cation channel, subfamily V, member 2
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTN
|
titin
|
|
TTR
|
transthyretin
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UTRN
|
utrophin
|
|
VCP
|
valosin containing protein
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VRK1
|
vaccinia related kinase 1
|
|
VWF
|
von Willebrand factor
|
|
YTHDC1
|
YTH domain containing 1
|
