Harmonizome 3.0

vitelline membrane outer layer 1 homolog (chicken)

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

corneal dystrophy of Bowman layer type II (Thiel-Behnke)

cartilage intermediate layer protein, nucleotide pyrophosphohydrolase

Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]

cartilage intermediate layer protein 2

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

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]

lunapark, ER junction formation factor

Enables identical protein binding activity. Involved in endoplasmic reticulum tubular network maintenance and positive regulation of endoplasmic reticulum tubular network organization. Located in endoplasmic reticulum tubular network membrane and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

afadin, adherens junction formation factor

This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]

formation of mitochondrial complex V assembly factor 1 homolog

Involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

telomere repeat binding bouquet formation protein 1

Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination. Predicted to be located in nuclear inner membrane and shelterin complex. Implicated in spermatogenic failure 60. [provided by Alliance of Genome Resources, Mar 2025]

telomere repeat binding bouquet formation protein 2

Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within meiosis I; oogenesis; and spermatogenesis. Predicted to be located in chromosome, telomeric region. Predicted to be active in nuclear inner membrane. Implicated in spermatogenic failure 59. [provided by Alliance of Genome Resources, Mar 2025]

mitochondrial sheath formation associated

Predicted to be involved in sperm mitochondrial sheath assembly. Predicted to be located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Mar 2025]

germ cell-less, spermatogenesis associated 1 pseudogene 1

This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ cell-less related protein. [provided by RefSeq, Jul 2008]

germ cell-less, spermatogenesis associated 1 pseudogene 2

male germ cell tumor

putative germ cell-specific gene 1-like protein 2

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

germ cell associated 2 (haspin)

Enables ATP binding activity and histone H3T3 kinase activity. Involved in several processes, including mitotic sister chromatid cohesion; mitotic spindle assembly checkpoint signaling; and protein localization to chromosome, centromeric region. Located in centrosome; nucleoplasm; and spindle. [provided by Alliance of Genome Resources, Mar 2025]

germ cell associated 1

Predicted to enable RNA polymerase binding activity. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

testicular germ cell tumor susceptibility 1

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]

germ cell-less, spermatogenesis associated 1

This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008]

alkaline phosphatase, germ cell

There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008]

germ cell-less 2, spermatogenesis associated

This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ cell-less related protein. [provided by RefSeq, Jul 2008]

germ cell nuclear acidic peptidase

Enables SUMO polymer binding activity. Involved in protein-DNA covalent cross-linking repair. Located in PML body. Implicated in X-linked spermatogenic failure 4. [provided by Alliance of Genome Resources, Mar 2025]