C7orf33

Homo sapiens

ASSOCIATED WITH cortical dysplasia-focal epilepsy syndrome; Weaver syndrome; INTERACTS WITH benzo[a]pyrene; folic acid

frl-1

Caenorhabditis elegans

Predicted to enable actin binding activity and small GTPase binding activity. Predicted to be involved in actin cytoskeleton organization and regulation of cell morphogenesis.

tes-1

Caenorhabditis elegans

Predicted to enable zinc ion binding activity. Expressed in AB; cuticular ala; hypodermal cell; seam cell; and vulva. Human ortholog(s) of this gene implicated in coronary stenosis. Is an ortholog of human LMCD1 (LIM and cysteine rich domains 1) and TES (testin LIM domain protein).

daam-1

Caenorhabditis elegans

Predicted to enable actin binding activity and small GTPase binding activity. Predicted to be involved in positive regulation of actin filament polymerization. Human ortholog(s) of this gene implicated in familial nephrotic syndrome. Is an ortholog of human DAAM2 (dishevelled associated activator of morphogenesis 2).

prkl-1

Caenorhabditis elegans

Predicted to enable zinc ion binding activity. Expressed in several structures, including QL; egg-laying apparatus; gonad; head; and somatic nervous system. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy 1B. Is an ortholog of human PRICKLE2 (prickle planar cell polarity protein 2) and PRICKLE3 (prickle planar cell polarity protein 3).

vang-1

Caenorhabditis elegans

Enables PDZ domain binding activity. Involved in Wnt signaling pathway, planar cell polarity pathway and digestive tract morphogenesis. Located in apical plasma membrane and basolateral plasma membrane. Expressed in several structures, including P5.ppp; P7.paa; egg-laying apparatus; gonad; and neurons. Human ortholog(s) of this gene implicated in caudal regression syndrome and neural tube defect. Is an ortholog of human VANGL1 (VANGL planar cell polarity protein 1) and VANGL2 (VANGL planar cell polarity protein 2).

lim-9

Caenorhabditis elegans

Enables protein domain specific binding activity. Located in M band. Expressed in several structures, including body wall musculature; excretory canal; non-striated muscle; spermatheca; and vulva. Is an ortholog of human FHL2 (four and a half LIM domains 2).

mab-9

Caenorhabditis elegans

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; nematode male tail tip morphogenesis; and post-embryonic hindgut morphogenesis. Located in nucleus. Expressed in several structures, including B.a; B.p; neurons; proctodeum; and rectal epithelial cell. Human ortholog(s) of this gene implicated in atrial heart septal defect 4; tetralogy of Fallot; and ventricular septal defect. Is an ortholog of human TBX20 (T-box transcription factor 20).

Ezh2

Rattus norvegicus

Enables chromatin binding activity and transcription cis-regulatory region binding activity. Involved in several processes, including GABAergic synaptic transmission; negative regulation of macromolecule biosynthetic process; and positive regulation of dendrite development. Predicted to be located in chromosome, telomeric region; nucleoplasm; and pronucleus. Predicted to be part of ESC/E(Z) complex; chromatin silencing complex; and pericentric heterochromatin. Predicted to be active in chromosome and nucleus. Used to study endometriosis. Biomarker of leiomyoma; metabolic dysfunction-associated steatotic liver disease; and pancreatic cancer. Human ortholog(s) of this gene implicated in several diseases, including Weaver syndrome; gastrointestinal system cancer (multiple); glioblastoma; hematologic cancer (multiple); and renal Wilms' tumor. Orthologous to human EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit); PARTICIPATES IN histone modification pathway; methionine cycle/metabolic pathway; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil.

Nsd1

Homo sapiens

This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]