Harmonizome 3.0

Hunt<strong>instrong>gton-like neurodegenerative disorder 2

dickkopf WNT signal<strong>instrong>g <strong>pathwaystrong> <strong>instrong>hibitor 1

This gene encodes a member of the dickkopf family of prote<strong>instrong>s. Members of this family are secreted prote<strong>instrong>s characterized by two cyste<strong>instrong>e-rich doma<strong>instrong>s that mediate prote<strong>instrong>-prote<strong>instrong> <strong>instrong>teractions. The encoded prote<strong>instrong> b<strong>instrong>ds to the LRP6 co-receptor and <strong>instrong>hibits beta-caten<strong>instrong>-dependent Wnt signal<strong>instrong>g. This gene plays a role <strong>instrong> embryonic development and may be important <strong>instrong> bone formation <strong>instrong> adults. Elevated expression of this gene has been observed <strong>instrong> numerous human cancers and this prote<strong>instrong> may promote proliferation, <strong>instrong>vasion and growth <strong>instrong> cancer cell l<strong>instrong>es. [provided by RefSeq, Sep 2017]

G prote<strong>instrong> <strong>pathwaystrong> suppressor 1

This gene is known to suppress G-prote<strong>instrong> and mitogen-activated signal transduction <strong>instrong> mammalian cells. The encoded prote<strong>instrong> shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction <strong>instrong> plant cells. [provided by RefSeq, Mar 2016]

G prote<strong>instrong> <strong>pathwaystrong> suppressor 2

This gene encodes a prote<strong>instrong> <strong>instrong>volved <strong>instrong> G prote<strong>instrong>-mitogen-activated prote<strong>instrong> k<strong>instrong>ase (MAPK) signal<strong>instrong>g cascades. When overexpressed <strong>instrong> mammalian cells, this gene could potently suppress a RAS- and MAPK-mediated signal and <strong>instrong>terfere with JNK activity, suggest<strong>instrong>g that the function of this gene may be signal repression. The encoded prote<strong>instrong> is an <strong>instrong>tegral subunit of the NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3) complex, and it was shown that the complex <strong>instrong>hibits JNK activation through this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antagonism of AP1 (activator prote<strong>instrong> 1) function. [provided by RefSeq, Jul 2008]

epidermal growth factor receptor <strong>pathwaystrong> substrate 15-like 1

Enables cadher<strong>instrong> b<strong>instrong>d<strong>instrong>g activity. Predicted to be <strong>instrong>volved <strong>instrong> endosomal transport and synaptic vesicle endocytosis. Located <strong>instrong> membrane. [provided by Alliance of Genome Resources, Mar 2025]

dickkopf WNT signal<strong>instrong>g <strong>pathwaystrong> <strong>instrong>hibitor 4

This gene encodes a prote<strong>instrong> that is a member of the dickkopf family. The secreted prote<strong>instrong> conta<strong>instrong>s two cyste<strong>instrong>e rich regions and is <strong>instrong>volved <strong>instrong> embryonic development through its <strong>instrong>teractions with the Wnt signal<strong>instrong>g <strong>pathwaystrong>. Activity of this prote<strong>instrong> is modulated by b<strong>instrong>d<strong>instrong>g to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq, Jul 2008]

dickkopf WNT signal<strong>instrong>g <strong>pathwaystrong> <strong>instrong>hibitor 3

This gene encodes a prote<strong>instrong> that is a member of the dickkopf family. The secreted prote<strong>instrong> conta<strong>instrong>s two cyste<strong>instrong>e rich regions and is <strong>instrong>volved <strong>instrong> embryonic development through its <strong>instrong>teractions with the Wnt signal<strong>instrong>g <strong>pathwaystrong>. The expression of this gene is decreased <strong>instrong> a variety of cancer cell l<strong>instrong>es and it may function as a tumor suppressor gene. Alternative splic<strong>instrong>g results <strong>instrong> multiple transcript variants encod<strong>instrong>g the same prote<strong>instrong>. [provided by RefSeq, Jul 2008]

TOR signal<strong>instrong>g <strong>pathwaystrong> regulator

TIPRL is an <strong>instrong>hibitory regulator of prote<strong>instrong> phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010]

non-prote<strong>instrong> cod<strong>instrong>g RNA, associated with MAP k<strong>instrong>ase <strong>pathwaystrong> and growth arrest

epidermal growth factor receptor <strong>pathwaystrong> substrate 15

This gene encodes a prote<strong>instrong> that is part of the EGFR <strong>pathwaystrong>. The prote<strong>instrong> is present at clather<strong>instrong>-coated pits and is <strong>instrong>volved <strong>instrong> receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene <strong>instrong> acute myelogeneous leukemias. Alternative splic<strong>instrong>g results <strong>instrong> multiple transcript variants encod<strong>instrong>g dist<strong>instrong>ct isoforms. [provided by RefSeq, May 2009]

dickkopf WNT signal<strong>instrong>g <strong>pathwaystrong> <strong>instrong>hibitor 2

This gene encodes a prote<strong>instrong> that is a member of the dickkopf family. The secreted prote<strong>instrong> conta<strong>instrong>s two cyste<strong>instrong>e rich regions and is <strong>instrong>volved <strong>instrong> embryonic development through its <strong>instrong>teractions with the Wnt signal<strong>instrong>g <strong>pathwaystrong>. It can act as either an agonist or antagonist of Wnt/beta-caten<strong>instrong> signal<strong>instrong>g, depend<strong>instrong>g on the cellular context and the presence of the co-factor kremen 2. Activity of this prote<strong>instrong> is also modulated by b<strong>instrong>d<strong>instrong>g to the Wnt co-receptor LDL-receptor related prote<strong>instrong> 6 (LRP6). [provided by RefSeq, Jul 2008]

tumor prote<strong>instrong> p53 <strong>pathwaystrong> corepressor 1 (non-prote<strong>instrong> cod<strong>instrong>g)

Predicted to act upstream of or with<strong>instrong> negative regulation of gene expression. Predicted to be part of ribonucleoprote<strong>instrong> complex. [provided by Alliance of Genome Resources, Mar 2025]

G prote<strong>instrong> <strong>pathwaystrong> suppressor 2 pseudogene 1

G prote<strong>instrong> <strong>pathwaystrong> suppressor 2 pseudogene 2

epidermal growth factor receptor <strong>pathwaystrong> substrate 8

This gene encodes a member of the EPS8 family. This prote<strong>instrong> conta<strong>instrong>s one PH doma<strong>instrong> and one SH3 doma<strong>instrong>. It functions as part of the EGFR <strong>pathwaystrong>, though its exact role has not been determ<strong>instrong>ed. Highly similar prote<strong>instrong>s <strong>instrong> other organisms are <strong>instrong>volved <strong>instrong> the transduction of signals from Ras to Rac and growth factor-mediated act<strong>instrong> remodel<strong>instrong>g. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

tissue factor <strong>pathwaystrong> <strong>instrong>hibitor 2

This gene encodes a member of the Kunitz-type ser<strong>instrong>e prote<strong>instrong>ase <strong>instrong>hibitor family. The prote<strong>instrong> can <strong>instrong>hibit a variety of ser<strong>instrong>e proteases <strong>instrong>clud<strong>instrong>g factor VIIa/tissue factor, factor Xa, plasm<strong>instrong>, tryps<strong>instrong>, chymotrysp<strong>instrong> and plasma kallikre<strong>instrong>. This gene has been identified as a tumor suppressor gene <strong>instrong> several types of cancer. Alternative splic<strong>instrong>g results <strong>instrong> multiple transcript variants. [provided by RefSeq, Aug 2012]

WNT1 <strong>instrong>ducible signal<strong>instrong>g <strong>pathwaystrong> prote<strong>instrong> 2

This gene encodes a member of the WNT1 <strong>instrong>ducible signal<strong>instrong>g <strong>pathwaystrong> (WISP) prote<strong>instrong> subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cyste<strong>instrong>e-rich, glycosylated signal<strong>instrong>g prote<strong>instrong>s that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cyste<strong>instrong>e-rich doma<strong>instrong>s: <strong>instrong>sul<strong>instrong>-like growth factor-b<strong>instrong>d<strong>instrong>g doma<strong>instrong>, von Willebrand factor type C module, thrombospond<strong>instrong> doma<strong>instrong> and C-term<strong>instrong>al cyst<strong>instrong>e knot-like (CT) doma<strong>instrong>. The encoded prote<strong>instrong> lacks the CT doma<strong>instrong> which is implicated <strong>instrong> dimerization and hepar<strong>instrong> b<strong>instrong>d<strong>instrong>g. It is 72% identical to the mouse prote<strong>instrong> at the am<strong>instrong>o acid level. This gene may be downstream <strong>instrong> the WNT1 signal<strong>instrong>g <strong>pathwaystrong> that is relevant to malignant transformation. Its expression <strong>instrong> colon tumors is reduced while the other two WISP members are overexpressed <strong>instrong> colon tumors. It is expressed at high levels <strong>instrong> bone tissue, and may play an important role <strong>instrong> modulat<strong>instrong>g bone turnover. [provided by RefSeq, Jul 2008]

WNT1 <strong>instrong>ducible signal<strong>instrong>g <strong>pathwaystrong> prote<strong>instrong> 3

This gene encodes a member of the WNT1 <strong>instrong>ducible signal<strong>instrong>g <strong>pathwaystrong> (WISP) prote<strong>instrong> subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cyste<strong>instrong>e-rich, glycosylated signal<strong>instrong>g prote<strong>instrong>s that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cyste<strong>instrong>e-rich doma<strong>instrong>s: <strong>instrong>sul<strong>instrong>-like growth factor-b<strong>instrong>d<strong>instrong>g doma<strong>instrong>, von Willebrand factor type C module, thrombospond<strong>instrong> doma<strong>instrong> and C-term<strong>instrong>al cyst<strong>instrong>e knot-like doma<strong>instrong>. This gene is overexpressed <strong>instrong> colon tumors. It may be downstream <strong>instrong> the WNT1 signal<strong>instrong>g <strong>pathwaystrong> that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, <strong>instrong>dicat<strong>instrong>g that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encod<strong>instrong>g different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

WNT1 <strong>instrong>ducible signal<strong>instrong>g <strong>pathwaystrong> prote<strong>instrong> 1

This gene encodes a member of the WNT1 <strong>instrong>ducible signal<strong>instrong>g <strong>pathwaystrong> (WISP) prote<strong>instrong> subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cyste<strong>instrong>e-rich, glycosylated signal<strong>instrong>g prote<strong>instrong>s that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cyste<strong>instrong>e-rich doma<strong>instrong>s: <strong>instrong>sul<strong>instrong>-like growth factor-b<strong>instrong>d<strong>instrong>g doma<strong>instrong>, von Willebrand factor type C module, thrombospond<strong>instrong> doma<strong>instrong> and C-term<strong>instrong>al cyst<strong>instrong>e knot-like doma<strong>instrong>. This gene may be downstream <strong>instrong> the WNT1 signal<strong>instrong>g <strong>pathwaystrong> that is relevant to malignant transformation. It is expressed at a high level <strong>instrong> fibroblast cells, and overexpressed <strong>instrong> colon tumors. The encoded prote<strong>instrong> b<strong>instrong>ds to decor<strong>instrong> and biglycan, two members of a family of small leuc<strong>instrong>e-rich proteoglycans present <strong>instrong> the extracellular matrix of connective tissue, and possibly prevents the <strong>instrong>hibitory activity of decor<strong>instrong> and biglycan <strong>instrong> tumor cell proliferation. It also attenuates p53-mediated apoptosis <strong>instrong> response to DNA damage through activation of the Akt k<strong>instrong>ase. It is 83% identical to the mouse prote<strong>instrong> at the am<strong>instrong>o acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]

WNT signal<strong>instrong>g <strong>pathwaystrong> activat<strong>instrong>g non-cod<strong>instrong>g RNA

tissue factor <strong>pathwaystrong> <strong>instrong>hibitor (lipoprote<strong>instrong>-associated coagulation <strong>instrong>hibitor)

This gene encodes a Kunitz-type ser<strong>instrong>e protease <strong>instrong>hibitor that regulates the tissue factor (TF)-dependent <strong>pathwaystrong> of blood coagulation. The coagulation process <strong>instrong>itiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibr<strong>instrong> clot. The product of this gene <strong>instrong>hibits the activated factor X and VIIa-TF proteases <strong>instrong> an autoregulatory loop. <strong>Instrong>hibition of the encoded prote<strong>instrong> restores hemostasis <strong>instrong> animal models of hemophilia. This gene encodes multiple prote<strong>instrong> isoforms that differ <strong>instrong> their <strong>instrong>hibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]

epidermal growth factor receptor <strong>pathwaystrong> substrate 15 pseudogene 1

G prote<strong>instrong> <strong>pathwaystrong> suppressor 1 pseudogene

SREBF <strong>pathwaystrong> regulator <strong>instrong> golgi 1

<strong>Instrong>volved <strong>instrong> positive regulation of SREBP signal<strong>instrong>g <strong>pathwaystrong>. Located <strong>instrong> Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025]

non-cod<strong>instrong>g RNA <strong>instrong> the aldehyde dehydrogenase 1A <strong>pathwaystrong>