Gene Gene information from NCBI Gene database.
Entrez ID 54765
Gene name Tripartite motif containing 44
Gene symbol TRIM44
Synonyms (NCBI Gene)
AN3DIPBHSA249128MC7
Chromosome 11
Chromosome location 11p13
Summary 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.
1
SNP ID Visualize variation Clinical significance Consequence
rs886039241 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
679
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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
GO:0008270 Function Zinc ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612298 19016 ENSG00000166326
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aniridia 3 Benign; no classifications from unflagged records rs3740798, rs61881297, rs886039241 RCV001838946
RCV001838947
RCV000254593
TRIM44-related disorder Likely benign; Benign rs561637328, rs34392570 RCV003941876
RCV003907360
Associations from Text MiningDisease associations identified through Pubtator
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