Harmonizome 3.0

male-specific lethal 3 homolog (Drosophila) pseudogene 1

Predicted to be involved in chromatin organization and regulation of DNA-templated transcription. Predicted to be located in nucleus. Predicted to be part of MSL complex and NuA4 histone acetyltransferase complex. [provided by Alliance of Genome Resources, Mar 2025]

male germ cell tumor

male-specific lethal 2 homolog (Drosophila)

Enables histone H2B ubiquitin ligase activity. Involved in DNA damage response and protein monoubiquitination. Part of MSL complex and nucleus. Is active in chromatin. [provided by Alliance of Genome Resources, Mar 2025]

male-specific lethal 3 homolog (Drosophila)

This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010]

Deafness and male infertility

male-specific lethal 1 homolog (Drosophila)

Enables protein-macromolecule adaptor activity. Involved in positive regulation of DNA-templated transcription. Located in nucleoplasm. Part of MSL complex. [provided by Alliance of Genome Resources, Mar 2025]

male-enhanced antigen 1

Predicted to be involved in male gonad development and spermatogenesis. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

male-specific lethal 3 homolog (Drosophila) pseudogene

male germ cell-associated kinase

The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

male-specific lethal 3 homolog (Drosophila) pseudogene

limb development membrane protein 1-like

Enables transmembrane signaling receptor activity. Involved in receptor-mediated endocytosis and signal transduction. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

mesoderm development candidate 1

This gene encodes a protein that is regulated by micro RNA MiR-574-3, and is thought to have an oncogenic function in human bladder cancer. A similar gene in mouse is located in a chromosomal region critical for differentiation of mesoderm, which affects embryo patterning and the formation of heart, muscle, blood, skeleton and the urogenital system. The mouse gene is expressed in early development, and in the adult. [provided by RefSeq, Nov 2016]

mesoderm development candidate 2

Predicted to enable low-density lipoprotein particle receptor binding activity. Involved in ossification and protein folding. Located in endoplasmic reticulum. Implicated in osteogenesis imperfecta type 20. [provided by Alliance of Genome Resources, Mar 2025]

craniofacial development protein 1

Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within several processes, including cell adhesion; negative regulation of fibroblast apoptotic process; and regulation of cell shape. Predicted to be located in kinetochore. Predicted to be part of Swr1 complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

embryonic ectoderm development

This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

vertebrae development associated

Predicted to enable sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

heart development protein with EGF-like domains 1

Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell junction. [provided by Alliance of Genome Resources, Mar 2025]

embryonic ectoderm development pseudogene

This locus is 89-91% identical to the embryonic ectoderm development gene on chromosome 11. This locus has a single exon and has no evidence of transcription, and so it is thought to be a pseudogene. [provided by RefSeq, Jul 2008]

testis development related protein

Acts upstream of or within spermatogenesis. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

limb development membrane protein 1

This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008]

limb bud and heart development

Involved in negative regulation of DNA-templated transcription; positive regulation of DNA-templated transcription; and regulation of MAPK cascade. Located in cytoplasm and nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

mesoderm development candidate 2 pseudogene

testis development related 1 (non-protein coding)

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

mesoderm development LRP chaperone

Predicted to enable low-density lipoprotein particle receptor binding activity. Involved in ossification and protein folding. Located in endoplasmic reticulum. Implicated in osteogenesis imperfecta type 20. [provided by Alliance of Genome Resources, Mar 2025]

Ciliary dyskinesia, primary, 4

Cholangitis, primary sclerosing

primary cilia formation

Enables cytoskeletal protein binding activity and enzyme binding activity. Involved in positive regulation of kinase activity. Predicted to be located in ciliary basal body and trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

Intestinal pseudoobstruction, neuronal, primary idiopathic

primary pulmonary hypertension 2

Primary lateral sclerosis, adult, 1

myeloid differentiation primary response 88

This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

primary retinal dysplasia

glaucoma 3, primary infantile, B

glaucoma 3, primary congenital, C

Hypoalphalipoproteinemia, primary

membrane primary amine oxidase-like

Ciliary dyskinesia, primary, 8

Biliary cirrhosis, primary, 3

Biliary cirrhosis, primary, 2

Biliary cirrhosis, primary, 5

Biliary cirrhosis, primary, 4

deleted in primary ciliary dyskinesia homolog (mouse)

This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016]