Gene Gene information from NCBI Gene database.
Entrez ID 259266
Gene name Assembly factor for spindle microtubules
Gene symbol ASPM
Synonyms (NCBI Gene)
ASPCalmbp1MCPH5
Chromosome 1
Chromosome location 1q31.3
Summary This gene is the human ortholog of the Drosophila melanogaster `abnormal spindle` gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation,
SNPs SNP information provided by dbSNP.
216
SNP ID Visualize variation Clinical significance Consequence
rs115594989 T>C Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, intron variant, coding sequence variant
rs118010078 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign Missense variant, intron variant, coding sequence variant
rs137852994 G>A Pathogenic Stop gained, coding sequence variant
rs137852995 C>T Pathogenic Stop gained, coding sequence variant
rs137852996 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
18
miRTarBase ID miRNA Experiments Reference
MIRT016478 hsa-miR-193b-3p Microarray 20304954
MIRT024686 hsa-miR-215-5p Microarray 19074876
MIRT026460 hsa-miR-192-5p Microarray 19074876
MIRT029549 hsa-miR-26b-5p Microarray 19088304
MIRT052495 hsa-let-7a-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
BRCA1 Activation 16123590
FOXJ1 Unknown 16809635
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0001764 Process Neuron migration IEA
GO:0002052 Process Positive regulation of neuroblast proliferation IEA
GO:0005516 Function Calmodulin binding IEA
GO:0005634 Component Nucleus IDA 21044324
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605481 19048 ENSG00000066279
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZT6
Protein name Abnormal spindle-like microcephaly-associated protein (Abnormal spindle protein homolog) (Asp homolog)
Protein function Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depen
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15780 ASH 37 134 Domain
PF00307 CH 1110 1261 Calponin homology (CH) domain Domain
PF00612 IQ 1316 1336 IQ calmodulin-binding motif Motif
PF00612 IQ 1348 1368 IQ calmodulin-binding motif Motif
PF00612 IQ 1394 1414 IQ calmodulin-binding motif Motif
PF00612 IQ 1465 1485 IQ calmodulin-binding motif Motif
PF00612 IQ 1488 1508 IQ calmodulin-binding motif Motif
PF00612 IQ 1560 1580 IQ calmodulin-binding motif Motif
PF00612 IQ 1583 1603 IQ calmodulin-binding motif Motif
PF00612 IQ 1633 1652 IQ calmodulin-binding motif Motif
PF00612 IQ 1656 1676 IQ calmodulin-binding motif Motif
PF00612 IQ 1729 1749 IQ calmodulin-binding motif Motif
PF00612 IQ 1752 1772 IQ calmodulin-binding motif Motif
PF00612 IQ 1802 1822 IQ calmodulin-binding motif Motif
PF00612 IQ 1826 1845 IQ calmodulin-binding motif Motif
PF00612 IQ 1848 1865 IQ calmodulin-binding motif Motif
PF00612 IQ 1875 1895 IQ calmodulin-binding motif Motif
PF00612 IQ 1898 1918 IQ calmodulin-binding motif Motif
PF00612 IQ 1971 1991 IQ calmodulin-binding motif Motif
PF00612 IQ 2021 2041 IQ calmodulin-binding motif Motif
PF00612 IQ 2044 2064 IQ calmodulin-binding motif Motif
PF00612 IQ 2094 2114 IQ calmodulin-binding motif Motif
PF00612 IQ 2190 2210 IQ calmodulin-binding motif Motif
PF00612 IQ 2240 2260 IQ calmodulin-binding motif Motif
PF00612 IQ 2312 2332 IQ calmodulin-binding motif Motif
PF00612 IQ 2335 2355 IQ calmodulin-binding motif Motif
PF00612 IQ 2385 2405 IQ calmodulin-binding motif Motif
PF00612 IQ 2408 2428 IQ calmodulin-binding motif Motif
PF00612 IQ 2458 2478 IQ calmodulin-binding motif Motif
PF00612 IQ 2481 2500 IQ calmodulin-binding motif Motif
PF00612 IQ 2532 2551 IQ calmodulin-binding motif Motif
PF00612 IQ 2625 2645 IQ calmodulin-binding motif Motif
PF00612 IQ 2666 2686 IQ calmodulin-binding motif Motif
PF00612 IQ 2689 2709 IQ calmodulin-binding motif Motif
PF00612 IQ 2739 2759 IQ calmodulin-binding motif Motif
PF00612 IQ 2860 2880 IQ calmodulin-binding motif Motif
PF00612 IQ 2933 2953 IQ calmodulin-binding motif Motif
PF00612 IQ 2955 2975 IQ calmodulin-binding motif Motif
PF00612 IQ 3030 3050 IQ calmodulin-binding motif Motif
PF00612 IQ 3080 3100 IQ calmodulin-binding motif Motif
PF00612 IQ 3182 3202 IQ calmodulin-binding motif Motif
PF00612 IQ 3205 3223 IQ calmodulin-binding motif Motif
Sequence
MANRRVGRGCWEVSPTERRPPAGLRGPAAEEEASSPPVLSLSHFCRSPFLCFGDVLLGAS
RTLSLALDNPNEEVAEVKISHFPAADLGFSVSQRCFVLQPKEKIVISVNWTPLKEGRVRE
IMTFLVNDVLKHQA
ILLGNAEEQKKKKRSLWDTIKKKKISASTSHNRRVSNIQNVNKTFS
VSQKVDRVRSPLQACENLAMNEGGPPTENNSLILEENKIPISPISPAFNECHGATCLPLS
VRRSTTYSSLHASENRELLNVHSANVSKVSFNEKAVTETSFNSVNVNGQRGENSKLSLTP
NCSSTLNITQSQIHFLSPDSFVNNSHGANNELELVTCLSSDMFMKDNSQPVHLESTIAHE
IYQKILSPDSFIKDNYGLNQDLESESVNPILSPNQFLKDNMAYMCTSQQTCKVPLSNENS
QVPQSPEDWRKSEVSPRIPECQGSKSPKAIFEELVEMKSNYYSFIKQNNPKFSAVQDISS
HSHNKQPKRRPILSATVTKRKATCTRENQTEINKPKAKRCLNSAVGEHEKVINNQKEKED
FHSYLPIIDPILSKSKSYKNEVTPSSTTASVARKRKSDGSMEDANVRVAITEHTEVREIK
RIHFSPSEPKTSAVKKTKNVTTPISKRISNREKLNLKKKTDLSIFRTPISKTNKRTKPII
AVAQSSLTFIKPLKTDIPRHPMPFAAKNMFYDERWKEKQEQGFTWWLNFILTPDDFTVKT
NISEVNAATLLLGIENQHKISVPRAPTKEEMSLRAYTARCRLNRLRRAACRLFTSEKMVK
AIKKLEIEIEARRLIVRKDRHLWKDVGERQKVLNWLLSYNPLWLRIGLETTYGELISLED
NSDVTGLAMFILNRLLWNPDIAAEYRHPTVPHLYRDGHEEALSKFTLKKLLLLVCFLDYA
KISRLIDHDPCLFCKDAEFKASKEILLAFSRDFLSGEGDLSRHLGLLGLPVNHVQTPFDE
FDFAVTNLAVDLQCGVRLVRTMELLTQNWDLSKKLRIPAISRLQKMHNVDIVLQVLKSRG
IELSDEHGNTILSKDIVDRHREKTLRLLWKIAFAFQVDISLNLDQLKEEIAFLKHTKSIK
KTISLLSCHSDDLINKKKGKRDSGSFEQYSENIKLLMDWVNAVCAFYNKKVENFTVSFSD
GRVLCYLIHHYHPCYVPFDAICQRTTQTVECTQTGSVVLNSSSESDDSSLDMSLKAFDHE
NTSELYKELLENEKKNFHLVRSAVRDLGGIPAMINHSDMSNTIPDEKVVITYLSFLCARL
L
DLRKEIRAARLIQTTWRKYKLKTDLKRHQEREKAARIIQLAVINFLAKQRLRKRVNAAL
VIQKYWRRVLAQRKLL
MLKKEKLEKVQNKAASLIQGYWRRYSTRQRFLKLKYYSIILQSR
IRMIIAVTSYKRYLWATVTIQRHWRAYLRRKQDQQRYEMLKSSTLIIQSMFRKWKQRKMQ
SQVKATVILQRAFREWHLRKQAKEENSAIIIQSWYRMHKELRKYIYIRSCVVIIQKRFRC
FQAQKLYK
RRKESILTIQKYYKAYLKGKIERTNYLQKRAAAIQLQAAFRRLKAHNLCRQI
RAACVIQSYWRMRQDRVRFL
NLKKTIIKFQAHVRKHQQRQKYKKMKKAAVIIQTHFRAYI
FAMKVLASYQKTRSAVIVLQSAYRGMQARKMYIHILTSVIKIQSYYRAYVSKKEFLSLKN
ATIKLQSTVKMKQTRKQYLHLRAAALFIQQCYRSKKIAAQKREEYMQMRESCIKLQAFVR
GYLVRKQMR
LQRKAVISLQSYFRMRKARQYYLKMYKAIIVIQNYYHAYKAQVNQRKNFLQ
VKKAATCLQAAYRGYKVRQLIKQQSIAALKIQSAFRGYNKRVKYQSVLQSIIKIQRWYRA
YKTLH
DTRTHFLKTKAAVISLQSAYRGWKVRKQIRREHQAALKIQSAFRMAKAQKQFRLF
KTAALVIQQNFRAWTAGRKQCMEYIELRHAVLVLQSMWKGKTLRRQLQRQHKCAIIIQSY
YRMHVQQKKWK
IMKKAALLIQKYYRAYSIGREQNHLYLKTKAAVVTLQSAYRGMKVRKRI
K
DCNKAAVTIQSKYRAYKTKKKYATYRASAIIIQRWYRGIKITNHQHKEYLNLKKTAIKI
QSVYRGIRVRRHIQ
HMHRAATFIKAMFKMHQSRISYHTMRKAAIVIQVRCRAYYQGKMQR
EKYLTILKAVKVLQASFRGVRVRRTLRKMQTAATLIQSNYRRYRQQTYFNKLKKITKTVQ
QRYWAMKERNIQFQRYNKLRHSVIYIQAIFRGKKARRHLKMMHIAATLIQRRFRTLMMRR
RFLSLKKTAILIQRKYRAHLCTKHHLQFLQVQNAVIKIQSSYRRWMIRKRMREMHRAATF
IQSTFRMHRLHMRYQ
ALKQASVVIQQQYQANRAAKLQRQHYLRQRHSAVILQAAFRGMKT
RRHLK
SMHSSATLIQSRFRSLLVRRRFISLKKATIFVQRKYRATICAKHKLYQFLHLRKA
AITIQSSYRRLMVKKKLQ
EMQRAAVLIQATFRMYRTYITFQTWKHASILIQQHYRTYRAA
KLQRENYIRQWHSAVVIQAAYKGMKARQLLREKHKASIVIQSTYRMYRQYCFYQKLQWAT
KIIQEKYRANKKKQKVFQHNELKKETCVQAGFQDMNIKKQIQEQHQAAIIIQKHCKAFKI
RKHYL
HLRATVVSIQRRYRKLTAVRTQAVICIQSYYRGFKVRKDIQNMHRAATLIQSFYR
MHRAKVDYE
TKKTAIVVIQNYYRLYVRVKTERKNFLAVQKSVRTIQAAFRGMKVRQKLKN
VSEEKMAAIVNQSALCCYRSKTQYEAVQSEGVMIQEWYKASGLACSQEAEYHSQSRAAVT
IQKAFCRMVTRKLETQKCAALRIQFFLQMAVYRRRFVQQKRAAITLQHYFRTWQTRKQFL
LYRKAAVVLQNHYRAFLSAKHQRQVYLQIRSSVIIIQARSKGFIQKRKFQEIKNSTIKIQ
AMWRRYRAKKYLC
KVKAACKIQAWYRCWRAHKEYLAILKAVKIIQGCFYTKLERTRFLNV
RASAIIIQRKWRAILPAKIAHEHFLMIKRHRAACLIQAHYRGYKGRQVFLRQKSAALIIQ
KYIRAREAGKHERIKYIEFKKSTVILQALVRGWLVRKRFLEQRAKIRLLHFTAAAYYHLN
AVRIQRAYKLYLAVKNANKQVNSVICIQRWFRARLQEKRFIQKYHSIKKIEHEGQECLSQ
RNRAASVIQKAVRHFLLRKKQEKFTSGIIKIQALWRGYSWRKKNDCTKIKAIRLSLQVVN
REIREENKLYKRTALALHYLLTYKHLSAILEALKHLEVVTRLSPLCCENMAQSGAISKIF
VLIRSCNRSIPCMEVIRYAVQVLLNVSKYEKTTSAVYDVENCIDILLELLQIYREKPGNK
VADKGGSIFTKTCCLLAILLKTTNRASDVRSRSKVVDRIYSLYKLTAHKHKMNTERILYK
QKKNSSISIPFIPETPVRTRIVSRLKPDWVLRRDNMEEITNPLQAIQMVMDTLGIPY
Sequence length 3477
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
960
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Pathogenic rs2125095360, rs2125113775, rs2125113873, rs199422147 RCV001814472
RCV001814532
RCV001814471
RCV001814007
Arthrogryposis multiplex congenita Likely pathogenic; Pathogenic rs886041709, rs774338373 RCV000855492
RCV000855491
ASPM-related disorder Likely pathogenic; Pathogenic rs587783265, rs587783280, rs757252885, rs2527402190, rs199422173 RCV003407562
RCV004752754
RCV003405975
RCV003956654
RCV003421927
Autosomal recessive primary microcephaly Likely pathogenic; Pathogenic rs2125096196, rs587783225, rs587783265, rs137852994, rs1558328295, rs199422161, rs555866170, rs776034810, rs772050241 RCV003120842
RCV001193345
RCV003317099
RCV001193347
RCV003330447
RCV001193346
RCV005239098
RCV000605641
RCV003994113
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs1658213105 -
Acute myeloid leukemia Benign; Likely benign rs41299623, rs41299587 RCV005886615
RCV005887029
Adrenocortical carcinoma, hereditary Benign; Likely benign rs41299623 RCV005886617
Cervical cancer Benign; Likely benign; Conflicting classifications of pathogenicity rs141402675, rs41299587, rs12025066 RCV005887020
RCV005887030
RCV005887599
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 30740936
Adenocarcinoma of Lung Associate 30587197, 32672359, 33187219, 35810236
Anemia Hemolytic Associate 2346784
Angelman Syndrome Associate 21633703
Aphasia Associate 29243349
Arthritis Rheumatoid Associate 35200126
Atrial Fibrillation Associate 35003319
Autosomal Recessive Primary Microcephaly Associate 11067780, 11078481, 12362027, 14574646, 14704186, 16141009, 19028728, 21044324, 24830737, 27920410, 29058117, 29243349, 29504900, 32677750, 34378666
View all (3 more)
Behcet Syndrome Associate 37335738
Bohring syndrome Associate 29058117