Harmonizome 3.0

TCF3 (E2A) fusion partner (in childhood Leukemia)

Predicted to enable DNA binding activity. Involved in several processes, including apoptotic signaling pathway; chromatin remodeling; and regulation of nucleobase-containing compound metabolic process. Located in nucleoplasm. Part of Ino80 complex. [provided by Alliance of Genome Resources, Mar 2025]

epilepsy, childhood absence 1

Sertoli cell-only syndrome, Y-linked

FCH domain only 2

Enables identical protein binding activity. Involved in clathrin coat assembly and clathrin-dependent endocytosis. Located in clathrin-coated pit and clathrin-coated vesicle. [provided by Alliance of Genome Resources, Mar 2025]

FCH domain only 1

Enables AP-2 adaptor complex binding activity. Involved in several processes, including T cell receptor signaling pathway; clathrin coat assembly; and clathrin-dependent endocytosis. Located in cytosol; nucleoplasm; and plasma membrane. Is active in clathrin-coated pit. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Mar 2025]

F-box only protein 25-like

LIM domain only 1 (rhombotin 1)

This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012]

LIM domain only 2 (rhombotin-like 1)

LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2008]

LIM domain only 3 (rhombotin-like 2)

The protein encoded by this gene belongs to the rhombotin family of cysteine-rich LIM domain oncogenes. This gene is predominantly expressed in the brain. Related family members, LMO1 and LMO2 on chromosome 11, have been reported to be involved in chromosomal translocations in T-cell leukemia. Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

LIM domain only 4

This gene encodes a cysteine-rich protein that contains two LIM domains but lacks a DNA-binding homeodomain. The encoded protein may play a role as a transcriptional regulator or as an oncogene. [provided by RefSeq, Aug 2008]

protein only RNase P catalytic subunit

Enables ribonuclease P activity. Involved in mitochondrial tRNA 5'-end processing. Located in mitochondrion and nucleoplasm. Part of mitochondrial ribonuclease P complex. Implicated in combined oxidative phosphorylation deficiency 54. [provided by Alliance of Genome Resources, Mar 2025]

Allergic/atopic asthma related QTL 40

Allergic/atopic asthma related QTL 45

Allergic/atopic asthma related QTL 18

Allergic/atopic asthma related QTL 13

Allergic/atopic asthma related QTL 15

Allergic/atopic asthma related QTL 14

Allergic/atopic asthma related QTL 16

Allergic/atopic asthma related QTL 38

Allergic/atopic asthma related QTL 37

Allergic/atopic asthma related QTL 48

Allergic/atopic asthma related QTL 49

Asthma-related traits, susceptibility to, 8

Allergic/atopic asthma related QTL 42

Allergic/atopic asthma related QTL 43

Allergic/atopic asthma related QTL 47

Allergic/atopic asthma related QTL 44

Asthma and obesity susceptibility, chromosome 16p11 inversion related

Allergic/atopic asthma related QTL 9

Allergic/atopic asthma related QTL 8

Allergic/atopic asthma related QTL 7

Allergic/atopic asthma related QTL 6

Allergic/atopic asthma related QTL 1

Allergic/atopic asthma related QTL 3

Allergic/atopic asthma related QTL 2

Allergic/Atopic asthma related QTL 29

Allergic/atopic asthma related QTL 24

Allergic/atopic asthma related QTL 25

Allergic/atopic asthma related QTL 27

Allergic/atopic asthma related QTL 20

Allergic/atopic asthma related QTL 21

Allergic/atopic asthma related QTL 22

Allergic/Atopic asthma related QTL 41

Allergic/atopic asthma related QTL 46

Asthma-related traits, susceptibility to, 6

Asthma-related traits, susceptibility to, 4

Allergic/atopic asthma related QTL 25

Allergic/atopic asthma related QTL 5

Allergic/atopic asthma related QTL 54

Allergic/Atopic asthma related QTL 56

Allergic/atopic asthma related QTL 51

Allergic/atopic asthma related QTL 53

Allergic/atopic asthma related QTL 52

Allergic/atopic asthma related QTL 4

Allergic/atopic asthma related QTL 11

Allergic/atopic asthma related QTL 12

Allergic/atopic asthma related QTL 17

Allergic/atopic asthma related QTL 19

Allergic/atopic asthma related QTL 10

Asthma-related traits, susceptibility to, 3

Allergic/atopic asthma related QTL 50

Allergic/atopic asthma related QTL 39

Allergic/atopic asthma related QTL 36

Allergic/atopic asthma related QTL 35

Allergic/atopic asthma related QTL 34

Allergic/atopic asthma related QTL 33

Allergic/Atopic asthma related QTL 32

Allergic/atopic asthma related QTL 31

Allergic/atopic asthma related QTL 30

Allergic/atopic asthma related QTL 5

Allergic/Atopic asthma related QTL 28

Allergic/atopic asthma related QTL 23