Harmonizome 3.0

trichilemmal cyst 1

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11

An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12

Predicted to be located in cytoplasmic vesicle and outer dense fiber. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

Primary lateral sclerosis, adult, 1

amyotrophic lateral sclerosis 7

amyotrophic lateral sclerosis 5

amyotrophic lateral sclerosis 2 (juvenile)

The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

amyotrophic lateral sclerosis 3 (autosomal dominant)

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2 pseudogene

developmental pluripotency associated 3 pseudogene

developmental pluripotency associated 4 pseudogene

developmental pluripotency associated 3 pseudogene 2

developmental pluripotency associated 3 pseudogene 1

interferon-related developmental regulator 1

This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

developmental pluripotency associated 2 pseudogene 3

FOXF1 adjacent non-coding developmental regulatory RNA

This gene produces a spliced long non-coding RNA transcribed bidirectionally with FOXF1 on the opposite strand. A similar gene in mouse is essential for normal development of the heart and body wall. The encoded transcript is thought to act by binding to polycomb repressive complex 2 (PRC2) and/or TrxG/MLL complexes to promote the methylation of the promoters of target genes, thus reducing their expression. It has been suggested that this transcript may play a role in the progression of gastric cancer. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

developmental pluripotency associated 4 pseudogene

developmental pluripotency associated 2 pseudogene 1

Developmental dysplasia of the hip 2

developmental pluripotency associated 5 pseudogene 4

developmental pluripotency associated 5 pseudogene 1

developmental pluripotency associated 5 pseudogene 3

developmental pluripotency associated 5 pseudogene 2

developmental pluripotency associated 2

Predicted to enable chromatin binding activity. Predicted to be involved in system development. Predicted to act upstream of or within several processes, including epigenetic regulation of gene expression; lung-associated mesenchyme development; and positive regulation of stem cell proliferation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

developmental pluripotency associated 3

This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq, Jul 2008]

developmental pluripotency associated 4

This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

developmental pluripotency associated 5

This gene encodes a protein that may function in the control of cell pluripotency and early embryogenesis. Expression of this gene is a specific marker for pluripotent stem cells. Pseudogenes of this gene are located on the short arm of chromosome 10 and the long arm of chromosomes 14 and 19. [provided by RefSeq, Dec 2010]

developmental pluripotency associated 4 pseudogene 1

developmental pluripotency associated 4 pseudogene

developmental pluripotency associated 4 pseudogene

developmental pluripotency associated 2 pseudogene

interferon-related developmental regulator 2

Enables ribosome binding activity and translation repressor activity. Involved in negative regulation of translation. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

developmental pluripotency associated 2 pseudogene

developmental pluripotency associated 3 pseudogene

developmental pluripotency associated 2 pseudogene 2

developmental pluripotency associated 2 pseudogene 4

sperm acrosome developmental regulator

Involved in spermatid development. Located in acrosomal vesicle. [provided by Alliance of Genome Resources, Mar 2025]