Harmonizome 3.0

Lymphomatous ong>acuteong> lymphoblastic leukemia

Leukemia, ong>acuteong> lymphoblastic, susceptibility to, 2

steroidogenic ong>acuteong> regulatory protein pseudogene 1

ong>Acuteong> insulin response (2)

T-cell ong>acuteong> lymphocytic leukemia 1

Enables several functions, including E-box binding activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and histone deacetylase binding activity. Involved in several processes, including myeloid cell differentiation; positive regulation of cellular component organization; and positive regulation of erythrocyte differentiation. Located in chromatin and nucleoplasm. Part of transcription regulator complex. Implicated in ong>acuteong> lymphoblastic leukemia. [provided by Alliance of Genome Resources, Mar 2025]

T-cell ong>acuteong> lymphocytic leukemia 2

This intronless gene encodes a helix-loop-helix protein. Translocations between this gene on chromosome 9 and the T-cell receptor beta-chain locus on chromosome 7 have been associated with activation of the T-cell ong>acuteong> lymphocytic leukemia 2 gene and T-cell ong>acuteong> lymphoblastic leukemia. [provided by RefSeq, Mar 2009]

steroidogenic ong>acuteong> regulatory protein

The protein encoded by this gene plays a key role in the ong>acuteong> regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]

Leukemia, ong>acuteong> lymphocytic, susceptibility to, 1

B-cell ong>acuteong> lymphoblastic leukemia expressed

brain and ong>acuteong> leukemia, cytoplasmic

This gene was identified by gene expression studies in patients with ong>acuteong> myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]

ong>acuteong> myeloid leukemia chromosome region 2

signal transducer and activator of transcription 3 (ong>acuteong>-phase response factor)

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral and bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020]

NOTCH1 associated lncRNA in T cell ong>acuteong> lymphoblastic leukemia 1

Chronic obstructive pulmonary disease QTL 14

Chronic obstructive pulmonary disease QTL 3

Chronic obstructive pulmonary disease QTL 2

Chronic obstructive pulmonary disease QTL 1

Chronic obstructive pulmonary disease QTL 6

Chronic obstructive pulmonary disease QTL 5

Chronic obstructive pulmonary disease QTL 4

Chronic obstructive pulmonary disease QTL 8

Leukemia, chronic lymphocytic, susceptibility to, 1

Leukemia, chronic lymphocytic susceptiblity to, 5

Leukemia, chronic lymphocytic, susceptibility to, 3

chronic lymphocytic leukemia up-regulated 1 opposite strand

Chronic obstructive pulmonary disease QTL 17

Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to

Chronic obstructive pulmonary disease QTL 7

Chronic obstructive pulmonary disease QTL 9

chronic lymphocytic leukemia up-regulated 1

Expression of this gene has been shown to be upregulated in some individuals with chronic lymphocytic leukemia (CLL), and has been used for prognostic and diagnostic purposes. This gene was originally identified as a human-specific putative protein-coding gene due to the presence of a peptide (PAp00140670, HIIYSTFLSK) that could have supported translation at this locus. This peptide is not present in more recent builds of PeptideAtlas, and the presence of a protein product at this locus has not been independently verified. For this reason, this gene is being represented as non-coding. Sequence comparisons to other primates indicates that no other primate is predicted to contain an open reading frame. [provided by RefSeq, Feb 2017]

Leukemia, chronic lymphocytic susceptibility to, 4

Spinal muscular atrophy, chronic distal, autosomal recessive

Chronic obstructive pulmonary disease QTL 13

Chronic obstructive pulmonary disease QTL 12

Chronic obstructive pulmonary disease QTL 11

Chronic obstructive pulmonary disease QTL 10

Chronic obstructive pulmonary disease QTL 16

Chronic obstructive pulmonary disease QTL 15

Chronic obstructive pulmonary disease QTL 19

Chronic obstructive pulmonary disease QTL 18

Pulmonary disease, chronic obstructive, severe early-onset

Chronic mountain sickness, susceptibility to

Chronic obstructive pulmonary disease QTL 28

Chronic obstructive pulmonary disease QTL 29

Chronic obstructive pulmonary disease QTL 22

Chronic obstructive pulmonary disease QTL 23

Chronic obstructive pulmonary disease QTL 20

Chronic obstructive pulmonary disease QTL 21

Chronic obstructive pulmonary disease QTL 26

Chronic obstructive pulmonary disease QTL 27

Chronic obstructive pulmonary disease QTL 24

Chronic obstructive pulmonary disease QTL 25