Category
page 7Genes on human chromosome 17
SMARCD2
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 is a protein in humans that is encoded by the SMARCD2 gene.
KRT28
KRT28 is a keratin gene.
UTP18
U3 small nucleolar RNA-associated protein 18 homolog is a protein that in humans is encoded by the UTP18 gene.
KPNB1
Importin subunit beta-1 is a protein that in humans is encoded by the KPNB1 gene.
CDC6
Cell division control protein 6 homolog is a protein that in humans is encoded by the CDC6 gene.
STX8
Syntaxin-8 is a protein that in humans is encoded by the STX8 gene.
Syntaxin 8 directly interacts with HECTd3 and has similar subcellular localization. The protein has been shown to form the SNARE complex with syntaxin 7, vti1b and endobrevin. These function as the machinery for the homotypic fusion of late endosomes.
FLCN
The tumor suppressor gene FLCN encodes the protein folliculin, also known as Birt–Hogg–Dubé syndrome protein, which functions as an inhibitor of Lactate Dehydrogenase-A and a regulator of the Warburg effect. Folliculin (FLCN) is also associated with Birt–Hogg–Dubé syndrome, which is an autosomal dominant inherited cancer syndrome in which affected individuals are at risk for the development of benign cutaneous tumors (folliculomas), pulmonary cysts (often associated with pneumothorax), and kidney tumors.
GOSR1
Golgi SNAP receptor complex member 1 is a protein that in humans is encoded by the GOSR1 gene.
AURKB
protein-coding gene in the species Homo sapiens
SEC14L1
SEC14-like protein 1 is a protein that in humans is encoded by the SEC14L1 gene.
SSTR2
protein-coding gene in the species Homo sapiens
WNT9B
protein-coding gene in the species Homo sapiens
WIPI1
WD repeat domain phosphoinositide-interacting protein 1 (WIPI-1), also known as Atg18 protein homolog (ATG18) and WD40 repeat protein interacting with phosphoinositides of 49 kDa (WIPI 49 kDa), is a protein that in humans is encoded by the WIPI1 gene.
TEKT1
Tektin-1 is a protein that in humans is encoded by the TEKT1 gene.
OR1G1
Olfactory receptor 1G1 is a protein that in humans is encoded by the OR1G1 gene.
MED11
Mediator complex subunit 11 (Med11) is a protein that in humans is encoded by the MED11 gene.
RETREG3
Reticulophagy regulator 3 is a protein that in humans is encoded by the RETREG3 (reticulophagy regulator family member 3) gene.
GH2
protein-coding gene in the species Homo sapiens
CCDC137
Coiled-coil domain containing 137 is a protein that in humans is encoded by the CCDC137 gene.
LGALS9
Galectin-9 was first isolated from mouse embryonic kidney in 1997 as a 36 kDa beta-galactoside lectin protein. Human galectin-9 is encoded by the LGALS9 gene.
CD300A
CMRF35-like molecule 8 is a protein encode by CD300A (Cluster of Differentiation 300A) gene.
MYOCD
Myocardin is a protein that in humans is encoded by the MYOCD gene.
NSF
protein-coding gene in the species Homo sapiens
NOS2
protein-coding gene in the species Homo sapiens
LLGL1
Lethal(2) giant larvae protein homolog 1 is a protein that in humans is encoded by the LLGL1 gene.
TRIM25
Tripartite motif-containing protein 25 is a protein that in humans is encoded by the TRIM25 gene.
RAB11FIP4
Rab11 family-interacting protein 4 is a protein that in humans is encoded by the RAB11FIP4 gene.
HSD17B1
17β-Hydroxysteroid dehydrogenase 1 (17β-HSD1) is an enzyme that in humans is encoded by the HSD17B1 gene. This enzyme oxidizes or reduces the C17 hydroxy/keto group of androgens and estrogens and hence is able to regulate the potency of these sex steroids
XAF1
XIAP-associated factor 1 is a protein that in humans is encoded by the XAF1 gene.
ANKFY1
Ankyrin repeat and FYVE domain-containing protein 1 is a protein that in humans is encoded by the ANKFY1 gene.
SPAG5
protein-coding gene in the species Homo sapiens
BRCA1 interacting protein C-terminal helicase 1
Fanconi anemia group J protein (FANCJ) is a protein that in humans is encoded by the BRCA1-interacting protein 1 (BRIP1) gene. The protein is a 5'-3' DNA helicase (EC: 5.2.6.3) and ATPase that repairs interstrand crosslinks (ICLs), double-stranded breaks (DSBs) and guanine quadruplexes (G4) through the Fanconi anemia (FA) pathway. Damage or depletion of BRIP1 has been associated with various cancers as well as Fanconi anemia.
NLE1
Notchless protein homolog 1 is a protein that in humans is encoded by the NLE1 gene.
DUSP3
Dual specificity protein phosphatase 3 is an enzyme that in humans is encoded by the DUSP3 gene.
CAVIN1
Polymerase I and transcript release factor, also known as Cavin1, Cavin-1 or PTRF, is a protein which in humans is encoded by the PTRF gene.
GAS7
Growth arrest-specific protein 7 is a protein that in humans is encoded by the GAS7 gene.
ENGASE
protein-coding gene in the species Homo sapiens
SRSF2
Serine/arginine-rich splicing factor 2 is a protein that in humans is encoded by the SRSF2 gene. MDS-associated splicing factor SRSF2 affects the expression of Class III and Class IV isoforms and perturbs granulopoiesis and SRSF2 P95H promotes Class IV splicing by binding to key ESE sequences in CSF3R exon 17, and that SRSF2, when mutated, contributes to dysgranulopoiesis.
AATK
Serine/threonine-protein kinase LMTK1 (also known as Apoptosis-associated tyrosine kinase) is an enzyme that in humans is encoded by the (AATK) gene.
IFI35
Interferon-induced 35 kDa protein is a protein that in humans is encoded by the IFI35 gene.
SSH2
Protein phosphatase Slingshot homolog 2 is an enzyme that in humans is encoded by the SSH2 gene.
TBCD
Tubulin-specific chaperone D is a protein that in humans is encoded by the TBCD gene.
NUFIP2
Nuclear fragile X mental retardation-interacting protein 2 is a protein that in humans is encoded by the NUFIP2 gene.
CANT1
CANT1 is a gene that encodes soluble calcium-activated nucleotidase 1, an enzyme, in humans.
FXR2
Fragile X mental retardation syndrome-related protein 2 is a protein that in humans is encoded by the FXR2 gene.
CRK
protein-coding gene in the species Homo sapiens
MEOX1
Mesenchyme homeobox 1 (MEOX1) is a protein that in humans is encoded by the MEOX1 gene.
SEPT4
Septin-4 is a protein that in humans is encoded by the SEPT4 gene.
MYH2
Myosin-2 (myosin heavy chain 2) is a protein that in humans is encoded by the MYH2 gene.
FKBP10
FK506-binding protein 10 is a protein that in humans is encoded by the FKBP10 gene.
SEPTIN9
Septin-9 is a protein that in humans is encoded by the SEPT9 gene.
WBP2
WW domain-binding protein 2 is a protein that in humans is encoded by the WBP2 gene.
GPS2
protein-coding gene in the species Homo sapiens
SLC47A1
protein-coding gene in the species Homo sapiens
SIRT7
protein-coding gene in the species Homo sapiens
RPL38
protein-coding gene in the species Homo sapiens
IKZF3
Zinc finger protein Aiolos, also known as Ikaros family zinc finger protein 3, is a protein encoded in humans by the IKZF3 gene.
COASY
Bifunctional coenzyme A synthase is an enzyme that in mammals is encoded by the COASY gene that catalyses the synthesis of coenzyme A from 4'-phosphopantetheine.
VAT1
Synaptic vesicle membrane protein VAT-1 homolog is a protein that in humans is encoded by the VAT1 gene.
MAP3K14
Mitogen-activated protein kinase kinase kinase 14 (MAP3K14), also known as NF-kappa-B-inducing kinase (NIK), is a MAP kinase kinase kinase enzyme that in humans is encoded by the MAP3K14 gene.