Gene Gene information from NCBI Gene database.
Entrez ID 79649
Gene name MAP7 domain containing 3
Gene symbol MAP7D3
Synonyms (NCBI Gene)
MDP3
Chromosome X
Chromosome location Xq26.3
Summary The protein encoded by this gene belongs to the MAP7 (microtubule-associated protein 7) family. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Mar 2010]
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs62640387 C>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
356
miRTarBase ID miRNA Experiments Reference
MIRT016550 hsa-miR-193b-3p Microarray 20304954
MIRT1129836 hsa-miR-1285 CLIP-seq
MIRT1129837 hsa-miR-1827 CLIP-seq
MIRT1129838 hsa-miR-2114 CLIP-seq
MIRT1129839 hsa-miR-214 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0000226 Process Microtubule cytoskeleton organization IDA 22142902
GO:0000226 Process Microtubule cytoskeleton organization IEA
GO:0005737 Component Cytoplasm IEA
GO:0005819 Component Spindle IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300930 25742 ENSG00000129680
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWC1
Protein name MAP7 domain-containing protein 3
Protein function Promotes the assembly and stability of microtubules.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05672 MAP7 582 733 MAP7 (E-MAP-115) family Coiled-coil
Sequence
MMADGAAAGAGGSPSLRELRARMVAAANEIAKERRKQDVVNRVATHSSNIRSTFKPVIDG
SMLKNDIKQRLARERREEKRRQQDANKETQLLEKERKTKLQYEKQMEERQRKLKERKEKE
EQRRIAAEEKRHQKDEAQKEKFTAILYRTLERRRLADDYQQKRWSWGGSAMANSESKTAN
KRSASTEKLEQGTSALIRQMPLSSAGLQNSVAKRKTDKERSSSLNRRDSNLHSSTDKEQA
ERKPRVTGVTNYVMQYVTVPLRKCTSDELRAVMFPMSTMKIPPQTKVEESPLEKVETPPK
ASVDAPPQVNVEVFCNTSMEASPKAGVGMAPEVSTDSFPVVSVDVSPVVSTYDSEMSMDA
SPELSIEALPKVDLETVPKVSIVASPEASLEAPPEVSLEALPEVSVEAAPEGSLEAPPKG
SAEVAPKESVKGSPKESMEASPEAMVKASPKTSLEASMEASPKAKARDAPKKSEMDKQAL
IPIAKKRLSSYTECYKWSSSPENACGLPSPISTNRQIQKNCPPSPLPLISKQSPQTSFPY
KIMPIQHTLSVQSASSTVKKKKETVSKTTNRCEALSQRHMIYEESGNKSTAGIMNAEAAT
KILTELRRLAREQREKEEEERQREEMQQRVIKKSKDMAKEAVGGQAEDHLKLKDGQQQNE
TKKKKGWLDQEDQEAPLQKGDAKIKAQEEADKRKKEHERIMLQNLQERLERKKRIEEIMK
RTRKTDVNASKVT
ETSSHDIYEEAEADNEESDKDSLNEMFPSAILNGTGSPTKFKMPFNN
AKKMTHKLVFLEDGTSQVRKEPKTYFNGDLKNFRQKSMKDTSIQEVVSRPSSKRMTSHTT
KTRKADETNTTSRSSAQTKSEGFHDILPKSSDTFRQ
Sequence length 876
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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 Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAP7D3-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Azoospermia Nonobstructive Nonobstructive azoospermia Pubtator 36259570 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation GENOMICS_ENGLAND_DG 2635020
★☆☆☆☆
Found in Text Mining only
Wilms Tumor Wilms tumor Pubtator 31701684 Associate
★☆☆☆☆
Found in Text Mining only