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Gene Gene information from NCBI Gene database.
Entrez ID 100272147
Gene name C-X9-C motif containing 4
Gene symbol CMC4
Synonyms (NCBI Gene)
C6.1BMTCP1MTCP1BMTCP1NBp8p8MTCP1
Chromosome X
Chromosome location Xq28
Summary This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5` exon spliced to two different sets of 3` exons that encode two dif
miRNA miRNA information provided by mirtarbase database.
27 Show/Hide all (27)
miRTarBase ID miRNA Experiments Reference
MIRT029060 hsa-miR-26b-5p Microarray 19088304
MIRT720190 hsa-miR-3139 HITS-CLIP 19536157
MIRT720189 hsa-miR-28-5p HITS-CLIP 19536157
MIRT720188 hsa-miR-708-5p HITS-CLIP 19536157
MIRT720187 hsa-miR-520f-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 7784073
GO:0005739 Component Mitochondrion IEA
GO:0005758 Component Mitochondrial intermembrane space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
301088 35428 ENSG00000182712
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56277
Protein name Cx9C motif-containing protein 4 (Mature T-cell proliferation 1 neighbor protein) (Mature T-cell proliferation-1 type A) (MTCP-1 type A) (Protein p8 MTCP-1) (p8MTCP1)
PDB 1EI0 , 1HP8 , 2HP8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08991 MTCP1 6 → 62 Mature-T-Cell Proliferation I type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues with a relatively high level in skeletal muscle.
Sequence
Sequence length 68
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Thyroid cancer, nonmedullary, 1 Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (11)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 11752899 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 8570215, 8634440
★★★★★
★☆☆☆☆
Found in Text Mining only
leukemia Leukemia BEFREE 10685338
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 39696784 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia, T-Cell T-cell leukemia BEFREE 7970717, 8634440, 9657733
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Glioma Glioma BEFREE 30233082
★★★★★
★☆☆☆☆
Found in Text Mining only
Moyamoya Disease Moyamoya Disease BEFREE 21596366
★★★★★
★☆☆☆☆
Found in Text Mining only
Myelodysplastic Syndromes Myelodysplastic syndrome Pubtator 26521017 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Myelodysplastic Syndromes Myelodysplastic syndrome Pubtator 35038703 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 8570215, 9614908
★★★★★
★☆☆☆☆
Found in Text Mining only