Gene Gene information from NCBI Gene database.
Entrez ID 54828
Gene name BCAS3 microtubule associated cell migration factor
Gene symbol BCAS3
Synonyms (NCBI Gene)
GAOB1HEMARSMAABPHAF2
Chromosome 17
Chromosome location 17q23.2
miRNA miRNA information provided by mirtarbase database.
218
miRTarBase ID miRNA Experiments Reference
MIRT817669 hsa-miR-1184 CLIP-seq
MIRT817670 hsa-miR-1236 CLIP-seq
MIRT817671 hsa-miR-1252 CLIP-seq
MIRT817672 hsa-miR-1265 CLIP-seq
MIRT817673 hsa-miR-1266 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MTA1 Activation 16617102
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000407 Component Phagophore assembly site IDA 33499712
GO:0000407 Component Phagophore assembly site IEA
GO:0000791 Component Euchromatin IDA 17505058
GO:0001525 Process Angiogenesis IEA
GO:0003682 Function Chromatin binding IDA 17505058
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607470 14347 ENSG00000141376
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H6U6
Protein name BCAS3 microtubule associated cell migration factor (Breast carcinoma-amplified sequence 3) (GAOB1)
Protein function Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leadi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12490 BCAS3 521 797 Breast carcinoma amplified sequence 3 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in stomach, liver, lung, kidney, prostate, testis, thyroid gland, adrenal gland, brain, heart, skeletal muscle, colon, spleen, small intestine, placenta, blood leukocyte and mammary epithelial cells. Expressed in undifferenti
Sequence
MNEAMATDSPRRPSRCTGGVVVRPQAVTEQSYMESVVTFLQDVVPQAYSGTPLTEEKEKI
VWVRFENADLNDTSRNLEFHEIHSTGNEPPLLIMIGYSDGMQVWSIPISGEAQELFSVRH
GPIRAARILPAPQFGAQKCDNFAEKRPLLGVCKSIGSSGTSPPYCCVDLYSLRTGEMVKS
IQFKTPIYDLHCNKRILVVVLQEKIAAFDSCTFTKKFFVTSCYPCPGPNMNPIALGSRWL
AYAENKLIRCHQSRGGACGDNIQSYTATVISAAKTLKSGLTMVGKVVTQLTGTLPSGVTE
DDVAIHSNSRRSPLVPGIITVIDTETVGEGQVLVSEDSDSDGIVAHFPAHEKPVCCMAFN
TSGMLLVTTDTLGHDFHVFQILTHPWSSSQCAVHHLYTLHRGETEAKVQDICFSHDCRWV
VVSTLRGTSHVFPINPYGGQPCVRTHMSPRVVNRMSRFQKSAGLEEIEQELTSKQGGRCS
PVPGLSSSPSGSPLHGKLNSQDSYNNFTNNNPGNPRLSPLPSLMVVMPLAQIKQPMTLGT
ITKRTGPYLFGAGCFSIKAPCKVKPPPQISPSKSMGGEFCVAAIFGTSRSWFANNAGLKR
EKDQSKQVVVESLYIISCYGTLVEHMMEPRPLSTAPKISDDTPLEMMTSPRASWTLVRTP
QWNELQPPFNANHPLLLAADAVQYYQFLLAGLVPPGSPGPITRHGSYDSLASDHSGQEDE
EWLSQVEIVTHTGPHRRLWMGPQFQFKTIHPSGQTTVISSSSSVLQSHGPSDTPQPLLDF
DTDDLDLNSLRIQPVRS
DPVSMPGSSRPVSDRRGVSTVIDAASGTFDRSVTLLEVCGSWP
EGFGLRHMSSMEHTEEGLRERLADAMAESPSRDVVGSGTELQREGSIETLSNSSGSTSGS
IPRNFDGYRSPLPTNESQPLSLFPTGFP
Sequence length 928
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
30
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Likely pathogenic; Pathogenic rs2144260660, rs761069193, rs2143782841, rs2144887794, rs2145000036, rs2145247321, rs2145432917, rs754857276, rs772813265, rs2143487816, rs2143538802 RCV001391657
RCV001391658
RCV001391646
RCV001391653
RCV001391647
RCV001391652
RCV001391648
RCV001391649
RCV001391650
RCV001391651
RCV001391656
Hengel-Maroofian-Schols syndrome Pathogenic; Likely pathogenic rs769939544, rs2544663258, rs2143782841, rs2145000036, rs2145432917, rs754857276, rs772813265 RCV002251294
RCV003445299
RCV001788444
RCV001788445
RCV001788446
RCV001788447
RCV001788448
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BCAS3-related disorder Uncertain significance rs201061353, rs1311975430 RCV003408724
RCV003391372
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Abscess Associate 18030336
Brain Diseases Associate 18030336
Brain Neoplasms Associate 18030336
Breast Neoplasms Associate 16617102, 18030336, 23260012, 27506935, 34240781
Esophageal atresia with or without tracheoesophageal fistula Associate 16320248
Gastroschisis Associate 32163230
Glioblastoma Associate 18030336
Gout Associate 25967671, 29879923
Hemangiopericytoma Associate 18030336
Inflammation Associate 25967671