Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54765
Gene name Gene Name - the full gene name approved by the HGNC.
Tripartite motif containing 44
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRIM44
Synonyms (NCBI Gene) Gene synonyms aliases
AN3, DIPB, HSA249128, MC7
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AN3
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs886039241 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029018 hsa-miR-26b-5p Microarray 19088304
MIRT031506 hsa-miR-16-5p Sequencing 20371350
MIRT050928 hsa-miR-17-5p CLASH 23622248
MIRT046664 hsa-miR-222-3p CLASH 23622248
MIRT041849 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001961 Process Positive regulation of cytokine-mediated signaling pathway IDA 23460740
GO:0002230 Process Positive regulation of defense response to virus by host IDA 23460740
GO:0005515 Function Protein binding IPI 17577209, 19358823, 23460740, 25416956, 28514442, 32296183
GO:0005737 Component Cytoplasm IBA 21873635
GO:0008270 Function Zinc ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612298 19016 ENSG00000166326
Protein
UniProt ID Q96DX7
Protein name Tripartite motif-containing protein 44 (Protein DIPB)
Protein function May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807). {ECO:0000250, ECO:0000269|PubMed:19358823, ECO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00643 zf-B_box 174 215 B-box zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|PubMed:19358823}.
Sequence
MASGVGAAFEELPHDGTCDECEPDEAPGAEEVCRECGFCYCRRHAEAHRQKFLSHHLAEY
VHGSQAWTPPADGEGAGKEEAEVKVEQEREIESEAGEESESEEESESEEESETEEESEDE
SDEESEEDSEEEMEDEQESEAEEDNQEEGESEAEGETEAESEFDPEIEMEAERVAKRKCP
DHGLDLSTYCQEDRQLICVLCPVIGAHQGHQLSTL
DEAFEELRSKDSGGLKAAMIELVER
LKFKSSDPKVTRDQMKMFIQQEFKKVQKVIADEEQKALHLVDIQEAMATAHVTEILADIQ
SHMDRLMTQMAQAKEQLDTSNESAEPKAEGDEEGPSGASEEEDT
Sequence length 344
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aniridia Aniridia, ANIRIDIA 3 rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979
View all (159 more)
26394807
Anterior segment dysgenesis Irido-corneo-trabecular dysgenesis (disorder) rs121907917, rs72549387, rs121909248, rs104893861, rs104893862, rs80358194, rs2113111009, rs104893957, rs104893958, rs104893954, rs587778873, rs587778874, rs878853070, rs752281590, rs369858688
View all (8 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Unknown
Disease term Disease name Evidence References Source
Mental Depression Mental Depression GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 23509313
Breast Neoplasms Associate 28885545
Carcinogenesis Associate 27619678, 31929141
Carcinoma Hepatocellular Stimulate 27619678
Carcinoma Non Small Cell Lung Stimulate 32271433
Carcinoma Renal Cell Associate 31883420
Carcinoma Squamous Cell Associate 30383661
Cholangiocarcinoma Associate 29446253
Chromosome Aberrations Stimulate 39273003
Colorectal Neoplasms Associate 31929141