Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79649
Gene name Gene Name - the full gene name approved by the HGNC.
MAP7 domain containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAP7D3
Synonyms (NCBI Gene) Gene synonyms aliases
MDP3
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq26.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300930 25742 ENSG00000129680
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Neurodevelopmental Disorders neurodevelopmental disorder N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Nonobstructive Associate 36259570
Wilms Tumor Associate 31701684