Category
page 2Genes on human chromosome 14
IRF9
Interferon regulatory factor 9 is a protein that in humans is encoded by the IRF9 gene, previously known as ISGF3G.
COCH
Cochlin is a protein that in humans is encoded by the COCH gene. It is an extracellular matrix (ECM) protein highly abundant in the cochlea and vestibule of the inner ear, constituting the major non-collagen component of the ECM of the inner ear. The protein is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively.
LGALS3
Galectin-3 is a protein that in humans is encoded by the LGALS3 gene. Galectin-3 is a member of the lectin family, of which 14 mammalian galectins have been identified.
SNAPC1
snRNA-activating protein complex subunit 1 is a protein that in humans is encoded by the SNAPC1 gene.
SPTB
Spectrin beta chain, erythrocyte is a protein that in humans is encoded by the SPTB gene.
ribonuclease A family member 3
mammalian protein found in Homo sapiens
PARP2
Poly [ADP-ribose] polymerase 2 is an enzyme that in humans is encoded by the PARP2 gene. It is one of the PARP family of enzymes.
neurexin family
Neurexins (NRXN) are a family of presynaptic cell adhesion proteins that have roles in connecting neurons at the synapse. They are located mostly on the presynaptic membrane and contain a single transmembrane domain. The extracellular domain interacts with proteins in the synaptic cleft, most notably neuroligin, while the intracellular cytoplasmic portion interacts with proteins associated with exocytosis. Neurexin and neuroligin "shake hands," resulting in the connection between the two neurons and the production of a synapse. Neurexins mediate signaling across the synapse, and influence the
NEDD8 ubiquitin like modifier
NEDD8 is a protein that in humans is encoded by the NEDD8 gene. (in Saccharomyces cerevisiae this protein is known as Rub1) This ubiquitin-like (UBL) protein becomes covalently conjugated to a limited number of cellular proteins, in a process called NEDDylation similar to ubiquitination. Human NEDD8 shares 60% amino acid sequence identity to ubiquitin. The primary known substrates of NEDD8 modification are the cullin subunits of cullin-based E3 ubiquitin ligases, which are active only when NEDDylated. Their NEDDylation is critical for the recruitment of E2 to the ligase complex, thus facilitat
GNG2
Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 is a protein that in humans is encoded by the GNG2 gene.
Gephyrin
Gephyrin is a protein that in humans is encoded by the GPHN gene.
NK2 homeobox 1
mammalian protein found in Homo sapiens
MIA2
Melanoma inhibitory activity protein 2 is a protein that in humans is encoded by the MIA2 gene.
TMED10
Transmembrane emp24 domain-containing protein 10 is a protein that in humans is encoded by the TMED10 gene.
RCOR1
REST corepressor 1 also known as CoREST is a protein that in humans is encoded by the RCOR1 gene.
PAPOLA
Poly(A) polymerase alpha is an enzyme that in humans is encoded by the PAPOLA gene.
SCFD1
Sec1 family domain-containing protein 1 is a protein that in humans is encoded by the SCFD1 gene.
CLBA1
Uncharacterized protein CLBA1 is a protein that in humans is encoded by the CLBA1 gene.
Bradykinin receptor family
InterPro Family
adenylosuccinate synthetase
InterPro Family
PLEK2
Pleckstrin-2 is a protein that in humans is encoded by the PLEK2 gene. The PLEK2 gene is located on chromosome 14 in Homo sapiens and is flanked by TMEM229B to its right and ATP6V1D to its left.
CDKN3
Cyclin-dependent kinase inhibitor 3 is an enzyme that in humans is encoded by the CDKN3 gene.
NRXN3
Neurexin-3-alpha is a protein that in humans is encoded by the NRXN3 gene.
ZFYVE1
Zinc finger FYVE domain-containing protein 1 is a protein that in humans is encoded by the ZFYVE1 gene.
chymase
Chymases (, mast cell protease 1, skeletal muscle protease, skin chymotryptic proteinase, mast cell serine proteinase, skeletal muscle protease) are a family of serine proteases found primarily in mast cells, though also present in basophil granulocytes (e.g. alpha chymase mcpt8). Recently, Derakhshan et al. reported that a specific mast cell population expressed transcripts for Mcpt8. They show broad peptidolytic activity and are involved in a variety of functions. For example, chymases are released by connective tissue-type mast cells upon challenge with parasites and parasite antigens promo
SERPINA4
Kallistatin is a protein that in humans is encoded by the SERPINA4 gene.
ITPK1
Inositol-tetrakisphosphate 1-kinase is an enzyme that in humans is encoded by the ITPK1 gene.
MAPK1IP1L
MAPK-interacting and spindle-stabilizing protein-like is a protein that in humans is encoded by the MAPK1IP1L gene.
JAG2
Jagged-2 is a protein that in humans is encoded by the JAG2 gene.
TDP1
Tyrosyl-DNA phosphodiesterase 1 is an enzyme that in humans is encoded by the TDP1 gene.
ERG28
Ergosterol biosynthetic protein 28 is a protein that in humans is encoded by the ERG28 gene.
FAM181A
Family with sequence similarity 181, member A is a protein that in humans is encoded by the FAM181A gene.
DEGS2
Delta(4)-desaturase, sphingolipid 2 is a protein that in humans is encoded by the DEGS2 gene.
ZBTB1
Zinc finger and BTB domain containing 1 is a protein in humans that is encoded by the ZBTB1 gene.
SLC24A4
protein-coding gene in the species Homo sapiens
JKAMP
JNK1-associated membrane protein is a protein that in humans is encoded by the JKAMP gene.
PSME1
Proteasome activator complex subunit 1 is a protein that in humans is encoded by the PSME1 gene.
GPR135
Probable G-protein coupled receptor 135 is a protein that in humans is encoded by the GPR135 gene.
SERPINA9
Serpin A9 also known as centerin or GCET1 is a protein that in humans is encoded by the SERPINA9 gene located on chromosome 14q32.1. Serpin A9 is a member of the serpin family of serine protease inhibitors.
ARF6
ADP-ribosylation factor 6 (ARF6) is a member of the ADP ribosylation factor family of GTP-binding proteins. ARF6 has a variety of cellular functions that are frequently involved in trafficking of biological membranes and transmembrane protein cargo. ARF6 has specifically been implicated in endocytosis of plasma membrane proteins and also, to a lesser extent, plasma membrane protein recycling.
CPSF2
Cleavage and polyadenylation specificity factor subunit 2 is a protein that in humans is encoded by the CPSF2 gene. This protein is a subunit of the cleavage and polyadenylation specificity factor (CPSF) complex which plays a key role in pre-mRNA 3' end processing and polyadenylation. The CPSF2 protein connects the two subunits of the complex, mCF and mPSF. Its structure contributes both to the stability of the subunits interaction and to the flexibility of the complex necessary for function. This protein has been identified as an essential subunit of the complex as certain mutations in the re
DYNC1H1
Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene. Dynein is a molecular motor protein that is responsible for the transport of numerous cellular cargoes to minus ends of microtubules, which are typically found in the center of a cell, or the cell body of neurons. It is located on the 14th chromosome at position 14q32.31. Cytoplasmic dynein transports cargoes along the axon in the retrograde direction, bringing materials from the axon to the cell body. Dynein heavy chain binds microtubules and hydrolyzes ATP at its C-terminal head. It binds cargo via
SPATA7
Spermatogenesis-associated protein 7 is a protein that in humans is encoded by the SPATA7 gene.
PPP2R5C
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform is an enzyme that in humans is encoded by the PPP2R5C gene.
EIF2S1
Eukaryotic translation initiation factor 2 subunit 1 (eIF2α) is a protein that in humans is encoded by the EIF2S1 gene.
VSX2
Visual system homeobox 2 is a protein that in humans is encoded by the VSX2 gene.
RPGRIP1
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.
DLGAP5
Disks large-associated protein 5 (DAP-5) also known as discs large homolog 7 (DLG7) or hepatoma up-regulated protein (HURP) is a protein that in humans is encoded by the DLGAP5 gene.
HSPA2
Heat shock-related 70 kDa protein 2 is a protein that in humans is encoded by the HSPA2 gene.
INF2
Inverted formin-2 is a protein that in humans is encoded by the INF2 gene. It belongs to the protein family called the formins. It has two splice isoforms, CAAX which localizes to the endoplasmic reticulum and non-CAAX which localizes to focal adhesions and the cytoplasm with enrichment at the Golgi. INF2 plays a role in mitochondrial fission and dorsal stress fiber formation. INF2 accelerates actin nucleation and elongation by interacting with barbed ends (fast-growing ends) of actin filaments, but also accelerates disassembly of actin through encircling and severing filaments.
BAG5
BAG family molecular chaperone regulator 5 is a protein that in humans is encoded by the BAG5 gene.
CNIH1
Protein cornichon homolog is a protein that in humans is encoded by the CNIH gene.
MOAP1
Modulator of apoptosis 1 is a protein that in humans is encoded by the MOAP1 gene.
SPTLC2
Serine palmitoyltransferase, long chain base subunit 2, also known as SPTLC2, is a protein which in humans is encoded by the SPTLC2 gene. SPTLC2 belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
PCNX1
Pecanex-like protein 1 is a protein that in humans is encoded by the PCNX gene. The gene is found in Homo sapiens, and functions as a competitive endogenous RNA of S-phase kinase associated protein 2 in lung cancer.
SUPT16H
FACT complex subunit SPT16 is a protein that in humans is encoded by the SUPT16H gene.
EAPP
E2F-associated phosphoprotein is a protein that in humans is encoded by the EAPP gene.
Serine C-palmitoyltransferase
class of enzymes
TRAF3
TNF receptor-associated factor (TRAF3) is a protein that in humans is encoded by the TRAF3 gene. ''''''
EGLN3
Egl nine homolog 3 is a protein that in humans is encoded by the EGLN3 gene. ELGN3 is a member of the superfamily of alpha-ketoglutarate-dependent hydroxylases, which are non-haem iron-containing proteins.