Harmonizome 3.0

growth regulation by estrogen in breast cancer-like

Acts upstream of or within kidney development. Predicted to be located in membrane. Implicated in autosomal dominant nonsyndromic deafness 80 and renal agenesis. [provided by Alliance of Genome Resources, Mar 2025]

regulation of nuclear pre-mRNA domain containing 1A

This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]

regulation of nuclear pre-mRNA domain containing 1B

Enables RNA polymerase II complex binding activity and identical protein binding activity. Involved in several processes, including RNA polymerase II promoter clearance; positive regulation of cell population proliferation; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription preinitiation complex. [provided by Alliance of Genome Resources, Mar 2025]

regulation of nuclear pre-mRNA domain containing 2

Predicted to enable RNA polymerase II complex binding activity. Predicted to be involved in mRNA 3'-end processing. Part of transcription preinitiation complex. [provided by Alliance of Genome Resources, Mar 2025]

growth regulation by estrogen in breast cancer 1

This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

regulation of nuclear pre-mRNA domain containing 1A pseudogene

plaque enriched lncRNA in atherosclerotic and inflammatory bowel macrophage regulation

p53 regulation associated lncRNA

transmembrane anterior posterior transformation 1

This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]

cataract, anterior polar 1

cataract, anterior polar 2

ventral anterior homeobox 2

This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]

ventral anterior homeobox 1

This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

anterior gradient 2

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression. [provided by RefSeq, Mar 2017]

anterior gradient 3

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This gene is expressed in ciliated airway epithelial cells and, in mouse, plays a role in ciliary beat frequency in multiciliated cells. This gene is also over-expressed in breast, ovarian, and prostrate cancers. [provided by RefSeq, Dec 2016]

Foveal hypoplasia and anterior segment dysgenesis

retina and anterior neural fold homeobox

This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]

retina and anterior neural fold homeobox 2

This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

NCBP2 antisense RNA 2 (head to head)

Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

CTBP1 antisense RNA 2 (head to head)

Involved in postreplication repair and recombinational repair. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

APCDD1L antisense RNA 1 (head to head)

NOVA1 antisense RNA 1 (head to head)

CDIPT antisense RNA 1 (head to head)

TESC antisense RNA 1 (head to head)

PSMD5 antisense RNA 1 (head to head)

ST3GAL5 antisense RNA 1 (head to head)

CPEB2 antisense RNA 1 (head to head)

DOCK9 antisense RNA 2 (head to head)

PAXIP1 antisense RNA 1 (head to head)

SSSCA1 antisense RNA 1 (head to head)

TAPT1 antisense RNA 1 (head to head)

BSN antisense RNA 2 (head to head)

NIPBL antisense RNA 1 (head to head)

SEPSECS antisense RNA 1 (head to head)

USP12 antisense RNA 2 (head to head)

IBA57 antisense RNA 1 (head to head)

HAND2 antisense RNA 1 (head to head)

Predicted to be involved in positive regulation of gene expression. Predicted to act upstream of or within with a positive effect on cardiac right ventricle morphogenesis. Predicted to act upstream of or within transcription elongation by RNA polymerase II. Predicted to be located in chromatin; cytoplasm; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ITPR1 antisense RNA 1 (head to head)

RAD51 antisense RNA 1 (head to head)

LMCD1 antisense RNA 1 (head to head)

CDKN2A antisense RNA 1 (head to head)

LLPH antisense RNA 1 (head to head)

OTUD6B antisense RNA 1 (head to head)

PTGES2 antisense RNA 1 (head to head)

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

PIK3IP1 antisense RNA 1 (head to head)

ZNF793 antisense RNA 1 (head to head)

ZNF667 antisense RNA 1 (head to head)

GDNF antisense RNA 1 (head to head)

LBX1 antisense RNA 1 (head to head)

GMDS antisense RNA 1 (head to head)

LRRC3 antisense RNA 1 (head to head)

FLVCR1 antisense RNA 1 (head to head)

MLLT4 antisense RNA 1 (head to head)

MAN1B1 antisense RNA 1 (head to head)

RGPD4 antisense RNA 1 (head to head)

RNF139 antisense RNA 1 (head to head)

RRS1 antisense RNA 1 (head to head)

ARHGAP5 antisense RNA 1 (head to head)

Enables ubiquitin ligase inhibitor activity. Involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process. [provided by Alliance of Genome Resources, Mar 2025]

ZNF674 antisense RNA 1 (head to head)

OSER1 antisense RNA 1 (head to head)

UBE2E2 antisense RNA 1 (head to head)

SEPT7 antisense RNA 1 (head to head)

STK4 antisense RNA 1 (head to head)

SPATA8 antisense RNA 1 (head to head)

OTX2 antisense RNA 1 (head to head)

CELSR3 antisense RNA 1 (head to head)

FOXD2 antisense RNA 1 (head to head)

SEMA3B antisense RNA 1 (head to head)

NDUFA6 antisense RNA 1 (head to head)

EPB41L4A antisense RNA 2 (head to head)

KMT2E antisense RNA 1 (head to head)

STX18 antisense RNA 1 (head to head)

NUP50 antisense RNA 1 (head to head)

RAB30 antisense RNA 1 (head to head)

FBXL19 antisense RNA 1 (head to head)

SRP54 antisense RNA 1 (head to head)

BMPR1B antisense RNA 1 (head to head)

URB1 antisense RNA 1 (head to head)

RPL34 antisense RNA 1 (head to head)

ST3GAL4 antisense RNA 1 (head to head)

BOLA3 antisense RNA 1 (head to head)

MAGEA8 antisense RNA 1 (head to head)

FOXD3 antisense RNA 1 (head to head)

DNAJC3 antisense RNA 1 (head to head)

RHPN1 antisense RNA 1 (head to head)

CSTF3 antisense RNA 1 (head to head)

DDR1 antisense RNA 1 (head to head)

FAM83H antisense RNA 1 (head to head)

CAPN10 antisense RNA 1 (head to head)

GATA6 antisense RNA 1 (head to head)

SAP30L antisense RNA 1 (head to head)

MANEA antisense RNA 1 (head to head)

ZC3H18 antisense RNA 1 (head to head)

FOXG1 antisense RNA 1 (head to head)

ANO1 antisense RNA 2 (head to head)

CEBPA antisense RNA 1 (head to head)

UBA6 antisense RNA 1 (head to head)

USP27X antisense RNA 1 (head to head)

KLHL7 antisense RNA 1 (head to head)

YTHDF3 antisense RNA 1 (head to head)

DIO3 opposite strand/antisense RNA (head to head)

The mouse and human DIO3OS and DIO3 (MIM 601038) genes overlap and are transcribed in opposite directions. The mouse Dio3 gene is imprinted from the paternal allele during fetal development, suggesting that DIO3OS is a noncoding gene that may have a role in maintaining monoallelic expression of DIO3 (Hernandez et al., 2004 [PubMed 14962667]).[supplied by OMIM, Mar 2008]

DPH6 antisense RNA 1 (head to head)

GAS6 antisense RNA 2 (head to head)

CHKB antisense RNA 1 (head to head)

KCNJ2 antisense RNA 1 (head to head)

PPP3CB antisense RNA 1 (head to head)

ZNF561 antisense RNA 1 (head to head)

TRAM2 antisense RNA 1 (head to head)

TGFB2 antisense RNA 1 (head to head)

A2M antisense RNA 1 (head to head)

JHDM1D antisense RNA 1 (head to head)

ZNF582 antisense RNA 1 (head to head)

CCDC37 antisense RNA 1 (head to head)

BARX1 antisense RNA 1 (head to head)

MEOX2 antisense RNA 1 (head to head)

TOLLIP antisense RNA 1 (head to head)

HTT antisense RNA (head to head)

Predicted to be involved in regulation of gene expression. [provided by Alliance of Genome Resources, Mar 2025]

RNF217 antisense RNA 1 (head to head)

MNX1 antisense RNA 1 (head to head)

EIF3J antisense RNA 1 (head to head)

SOX21 antisense RNA 1 (head to head)

TMCC1 antisense RNA 1 (head to head)

STAM antisense RNA 1 (head to head)

GTSE1 antisense RNA 1 (head to head)

OSMR antisense RNA 1 (head to head)

PSMB8 antisense RNA 1 (head to head)

TNKS2 antisense RNA 1 (head to head)

NCK1 antisense RNA 1 (head to head)

USP2 antisense RNA 1 (head to head)

C9orf135 antisense RNA 1 (head to head)

FZD10 antisense RNA 1 (head to head)

PKNOX2 antisense RNA 1 (head to head)

VWA8 antisense RNA 1 (head to head)

ZNF213 antisense RNA 1 (head to head)

SUCLG2 antisense RNA 1 (head to head)

ILF3 antisense RNA 1 (head to head)

SMC2 antisense RNA 1 (head to head)

SMC5 antisense RNA 1 (head to head)

LYPLAL1 antisense RNA 1 (head to head)

KCNC4 antisense RNA 1 (head to head)

SRP14 antisense RNA1 (head to head)

CFAP58 antisense RNA 1 (head to head)

PTPRD antisense RNA 2 (head to head)

PSMG3 antisense RNA 1 (head to head)

DLX2 antisense RNA 1 (head to head)

LHX5 antisense RNA 1 (head to head)

BAIAP2 antisense RNA 1 (head to head)

FBXO3 antisense RNA 1 (head to head)

ID2 antisense RNA 1 (head to head)

MAFG antisense RNA 1 (head to head)

WAC antisense RNA 1 (head to head)

UBL7 antisense RNA 1 (head to head)

DNAJB5 antisense RNA 1 (head to head)

ZRANB2 antisense RNA 2 (head to head)

UCHL1 antisense RNA 1 (head to head)

PTCHD1 antisense RNA (head to head)

TRIM52 antisense RNA 1 (head to head)

SPATA3 antisense RNA 1 (head to head)

PABPC1L2B antisense RNA 1 (head to head)

IL10RB antisense RNA 1 (head to head)

CDC37L1 antisense RNA 1 (head to head)

CEP83 antisense RNA 1 (head to head)

NCBP2 antisense 2 (head to head)

Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

radial spoke head 9 homolog (Chlamydomonas)

This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

radial spoke head 10 homolog B (Chlamydomonas)

Predicted to enable kinase activity. Predicted to be located in 9+2 motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

radial spoke head 10 homolog B2 (Chlamydomonas)

This gene encodes a protein component of the radial spoke head in flagella and motile cilia. Eukaryotic flagella and motile cilia share a common 9 + 2 structure, in which nine peripheral microtubule doublets (MTDs) surround a central-pair of microtubules (CP), with radial spokes connecting the MTDs to the CP. The radial spoke is a multi-protein complex that works as a mechanochemical transducer between the CP and the MTDs. The radial spoke contributes to the regulation of the activity of dynein motors, and thus to flagellar motility. PMID: 22754630 provides a good review of radial spokes. [provided by RefSeq, Jul 2017]

radial spoke head 1 homolog (Chlamydomonas)

This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

radial spoke head 6 homolog A (Chlamydomonas)

The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]

radial spoke head 14 homolog (Chlamydomonas)

This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]

cylicin, basic protein of sperm head cytoskeleton 1

This gene encodes a sperm head cytoskeletal protein. The encoded protein is associated with the calyx of spermatozoa and spermatids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

cylicin, basic protein of sperm head cytoskeleton 2

Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads. Cylicin II may play a role in the morphogenesis of the sperm head. [provided by RefSeq, Jul 2008]

radial spoke head 4 homolog A (Chlamydomonas)

This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]