Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
151188 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
ARF like GTPase 6 interacting protein 6 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
ARL6IP6 |
SynonymsGene synonyms aliases
|
AIP-6, AIP6, PFAAP1 |
ChromosomeChromosome number
|
2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2q23.3 |
miRNAmiRNA information provided by mirtarbase database.
|
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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 |
32296183 |
GO:0005637 |
Component |
Nuclear inner membrane |
ISS |
|
GO:0016021 |
Component |
Integral component of membrane |
IEA |
|
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q8N6S5 |
Protein name |
ADP-ribosylation factor-like protein 6-interacting protein 6 (ARL-6-interacting protein 6) (Aip-6) (Phosphonoformate immuno-associated protein 1) |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF15062 |
ARL6IP6 |
138 → 214 |
Haemopoietic lineage transmembrane helix |
Family |
|
Sequence |
|
Sequence length |
226 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Cafe-au-lait spot |
Cafe au lait spots, multiple |
rs1057518792, rs1555613206, rs1555608663 |
|
Hypothyroidism |
Hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 |
|
Patent ductus arteriosus |
Patent ductus arteriosus |
rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872 |
|
Retinal detachment |
Retinal Detachment |
rs1555976049, rs1592230091 |
|
Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Blue nevus |
Nevus, Blue |
|
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Congenital arteriovenous malformation |
Congenital arteriovenous malformation |
|
|
Cutis marmorata |
Cutis marmorata |
|
|
Cutis marmorata telangiectatica congenita |
Cutis marmorata telangiectatica congenita |
|
25957586 |
Impaired cognition |
Impaired cognition |
|
|
Leukocoria |
Leukocoria |
|
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Micrognathism |
Micrognathism |
|
|
Multicystic renal dysplasia |
Multicystic Dysplastic Kidney |
|
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Oral cleft |
Oral cleft |
|
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Skin erosion |
Skin Erosion |
|
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Strawberry nevus of skin |
Strawberry nevus of skin |
|
|
Stroke |
Cerebrovascular accident |
|
22384361 |
Syndactyly of fingers |
Syndactyly of fingers |
|
|
Syndactyly of the toes |
Syndactyly of the toes |
|
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