Category
page 2Genes on human chromosome X
TIMP1
TIMP metallopeptidase inhibitor 1, also known as TIMP1, a tissue inhibitor of metalloproteinases, is a two-domain glycoprotein with a molecular weight of 28 kDa. TIMP1 is expressed in several tissues of organisms.
RP2
protein-coding gene in the species Homo sapiens
NR0B1
DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein that in humans is encoded by the NR0B1 gene (nuclear receptor subfamily 0, group B, member 1). The NR0B1 gene is located on the short (p) arm of the X chromosome between bands Xp21.3 and Xp21.2, from base pair 30,082,120 to base pair 30,087,136.
ABCD1
ABCD1 is a protein that transfers fatty acids into peroxisomes.
SH2D1A
SH2 domain–containing protein 1A is a protein that in humans is encoded by the SH2D1A gene. It is often called SLAM-associated protein (symbol SAP), where "SLAM" refers to signaling lymphocytic activation molecules. It is a SH2 domain–containing molecule (part of a family of such molecules) that plays a role in SLAM signaling. A putative function is as an adaptor for Fyn and competitor of phosphatases, leading to modulation of SLAM family function. SAP has been implicated in autoimmunity, and a mutation of it is associated with X-linked lymphoproliferative disease. At least 32 disease-causing
ATRX
Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein (XNP) is a protein that in humans is encoded by the ATRX gene.
NDP
Norrin, also known as Norrie disease protein or X-linked exudative vitreoretinopathy 2 protein (EVR2) is a protein that in humans is encoded by the NDP gene. Mutations in the NDP gene are associated with the Norrie disease.
TLR7
protein-coding gene in the species Homo sapiens
AGTR2
protein-coding gene in the species Homo sapiens
KLF8
Krueppel-like factor 8 is a protein that in humans is encoded by the KLF8 gene.
KLF8 belongs to the family of KLF protein. KLF8 is activated by KLF1 along with KLF3 while KLF3 represses KLF8.
GPRASP1
G-protein coupled receptor-associated sorting protein 1 is a protein that in humans is encoded by the GPRASP1 gene.
FLNA
Filamin A, alpha (FLNA) is a protein that in humans is encoded by the FLNA gene.
vasopressin receptor
G protein-coupled receptor
PSMD10
26S proteasome non-ATPase regulatory subunit 10 or gankyrin is an enzyme that in humans is encoded by the PSMD10 gene. First isolated in 1998 by Tanaka et al.; Gankyrin is an oncoprotein that is a component of the 19S regulatory cap of the proteasome. Structurally, it contains a 33-amino acid ankyrin repeat that forms a series of alpha helices. It plays a key role in regulating the cell cycle via protein-protein interactions with the cyclin-dependent kinase CDK4. It also binds closely to the E3 ubiquitin ligase MDM2, which is a regulator of the degradation of p53 and retinoblastoma protein, bo
Four and a half LIM domains 1
Four and a half LIM domains protein 1 is a protein that in humans is encoded by the FHL1 gene.
BMX
protein-coding gene in the species Homo sapiens
Cancer/testis antigen 83
mammalian protein found in Homo sapiens
SMS
protein-coding gene in the species Homo sapiens
MED14
Mediator of RNA polymerase II transcription subunit 14 is an enzyme that in humans is encoded by the MED14 gene.
PHF8
PHD finger protein 8 is a protein that in humans is encoded by the PHF8 gene.
TRO
Trophinin is a protein that in humans is encoded by the TRO gene.
TAF1
Transcription initiation factor TFIID subunit 1, also known as transcription initiation factor TFIID 250 kDa subunit (TAFII-250) or TBP-associated factor 250 kDa (p250), is a protein that in humans is encoded by the TAF1 gene.
short stature homeobox
mammalian protein found in Homo sapiens
DNASE1L1
Deoxyribonuclease-1-like 1 is an enzyme that in humans is encoded by the DNASE1L1 gene. It is also known as DNaseX due to its localisation on the X chromosome.
Xg antigen system
blood group system
CSF2RA
protein-coding gene in the species Homo sapiens
P2RY4
P2Y purinoceptor 4 is a protein that in humans is encoded by the P2RY4 gene.
ARR3
Arrestin-C, also known as retinal cone arrestin-3, is a protein that in humans is encoded by the ARR3 gene.
RLIM
E3 ubiquitin-protein ligase RLIM is an enzyme that in humans is encoded by the RLIM gene.
SLC25A14
protein-coding gene in the species Homo sapiens
ADGRG2
G protein-coupled receptor 64 also known as HE6 is a protein encoded by the ADGRG2 gene. GPR64 is a member of the adhesion GPCR family.
Adhesion GPCRs are characterized by an extended extracellular region often possessing N-terminal protein modules that is linked to a TM7 region via a domain known as the GPCR-Autoproteolysis INducing (GAIN) domain.
TSPYL2
Testis-specific Y-encoded-like protein 2 is a protein that in humans is encoded by the TSPYL2 gene.
GEMIN8
Gem-associated protein 8 (Gemin-8) is a protein that in humans is encoded by the GEMIN8 gene.
EDA
protein-coding gene in the species Homo sapiens
GPR101
Probable G-protein coupled receptor 101 is a protein that is encoded by the GPR101 gene in humans.
GPRASP2
G-protein coupled receptor-associated sorting protein 2 is a protein that in humans is encoded by the GPRASP2 gene.
OFD1
Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.
Glutamate ionotropic receptor AMPA type subunit 3
Glutamate receptor 3 is a protein that in humans is encoded by the GRIA3 gene.
DLG3
Disks large homolog 3 (DLG3) also known as neuroendocrine-DLG or synapse-associated protein 102 (SAP-102) is a protein that in humans is encoded by the DLG3 gene. DLG3 is a member of the membrane-associated guanylate kinase (MAGUK) superfamily of proteins.
AVPR2
protein-coding gene in the species Homo sapiens
PLS3
Plastin-3 is a highly conserved protein that in humans is encoded by the PLS3 gene on the X chromosome.
UBQLN2
Ubiquilin-2 is a protein that in humans is encoded by the UBQLN2 gene.
VAMP7
protein-coding gene in the species Homo sapiens
DDX3X
ATP-dependent RNA helicase DDX3X is an enzyme that in humans is encoded by the DDX3X gene.
THOC2
THO complex subunit 2 is a protein that in humans is encoded by the THOC2 gene.
PQBP1
Polyglutamine-binding protein 1 (PQBP1) is a protein that in humans is encoded by the PQBP1 gene.
MAGE family member A1
Melanoma-associated antigen 1 is a protein that in humans is encoded by the MAGEA1 gene.
MED12
Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human gene found on the X chromosome.
IKBKG
NF-kappa-B essential modulator (NEMO) also known as inhibitor of nuclear factor kappa-B kinase subunit gamma (IKK-γ) is a protein that in humans is encoded by the IKBKG gene. NEMO is a subunit of the IκB kinase complex that activates NF-κB. The human gene for IKBKG is located on the chromosome band Xq28. Multiple transcript variants encoding different isoforms have been found for this gene.
BGN
Biglycan is a small leucine-rich repeat proteoglycan (SLRP) which is found in a variety of extracellular matrix tissues, including bone, cartilage and tendon. In humans, biglycan is encoded by the BGN gene which is located on the X chromosome.
ARHGEF9
Rho guanine nucleotide exchange factor 9 is a protein that in humans is encoded by the ARHGEF9 gene.
PIM2
protein-coding gene in the species Homo sapiens
VSIG4
protein-coding gene in the species Homo sapiens
FUNDC1
FUN14 domain containing 1 is a protein that in humans is encoded by the FUNDC1 gene.
PDHA1
protein-coding gene in the species Homo sapiens
ADGRG4
G protein-coupled receptor 112 is a protein encoded by the ADGRG4 gene. GPR112 is a member of the adhesion GPCR family.
Adhesion GPCRs are characterized by an extended extracellular region often possessing N-terminal protein modules that is linked to a TM7 region via a domain known as the GPCR-Autoproteolysis INducing (GAIN) domain.
P2RY10
Putative P2Y purinoceptor 10 is a protein that, in humans, is encoded by the P2RY10 gene.
FANCB
Fanconi anemia group B protein is a protein that in humans is encoded by the FANCB gene.
ARHGEF6
Rho guanine nucleotide exchange factor 6 is a protein that, in humans, is encoded by the ARHGEF6 gene.
CSTF2
Cleavage stimulation factor 64 kDa subunit is a protein that in humans is encoded by the CSTF2 gene,which is located on the X-chromosome in Homo sapiens, but has an autosomal paralog CSTF2T on chromosome 19 coding for the protein CstF64τ.