Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9949
Gene name Gene Name - the full gene name approved by the HGNC.
AMMECR nuclear protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AMMECR1
Synonyms (NCBI Gene) Gene synonyms aliases
AMMERC1, MFHIEN
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MFHIEN
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq23
Summary Summary of gene provided in NCBI Entrez Gene.
The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1057519337 C>T Pathogenic Missense variant, coding sequence variant, intron variant
rs1057519338 G>A Pathogenic Coding sequence variant, stop gained, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004965 hsa-let-7a-5p qRT-PCR 17942906
MIRT004949 hsa-miR-98-5p qRT-PCR 17942906
MIRT019948 hsa-miR-375 Microarray 20215506
MIRT022777 hsa-miR-124-3p Microarray 18668037
MIRT024255 hsa-miR-215-5p Microarray 19074876
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21304492, 25416956, 26871637, 31515488
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 27811305
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300195 467 ENSG00000101935
Protein
UniProt ID Q9Y4X0
Protein name Nuclear protein AMMECR1 (AMME syndrome candidate gene 1 protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01871 AMMECR1 131 302 AMMECR1 Family
Sequence
MAAGCCGVKKQKLSSSPPSGSGGGGGASSSSHCSGESQCRAGELGLGGAGTRLNGLGGLT
GGGSGSGCTLSPPQGCGGGGGGIALSPPPSCGVGTLLSTPAAATSSSPSSSSAASSSSPG
SRKMVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYPLFVTWKIGRDKRLRGCIGTFS
AMNLHSGLREYTLTSALKDSRFPPMTRDELPRLFCSVSLLTNFEDVCDYLDWEVGVHGIR
IEFINEKGSKRTATYLPEVAKEQGWDHIQTIDSLLRKGGYKAPITNEFRKTIKLTRYRSE
KM
TLSYAEYLAHRQHHHFQNGIGHPLPPYNHYS
Sequence length 333
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Elliptocytosis Elliptocytosis, Hereditary rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305
View all (1 more)
Hearing loss Sensorineural Hearing Loss (disorder), Hearing Loss, Mixed Conductive-Sensorineural rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Mental retardation Severe intellectual disability, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Associations from Text Mining
Disease Name Relationship Type References
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis Associate 27811305
Apraxias Associate 27811305
Body Dysmorphic Disorders Associate 27811305
Cleft Palate Associate 27811305, 35084080
Congenital Abnormalities Associate 35084080
Developmental Disabilities Associate 27811305, 35084080
Edema Associate 35084080
Elliptocytosis 1 Associate 35084080
Hearing Loss Associate 27811305, 35084080
Hearing Loss Sensorineural Associate 35084080