Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	91801
Gene name	AlkB homolog 8, tRNA methyltransferase
Gene symbol	ALKBH8
Synonyms (NCBI Gene)	ABH8MRT71TRM9TRMT9TRMT9A
Chromosome	11
Chromosome location	11q22.3

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs375189195	G>A,C,T	Pathogenic	Missense variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs1591234203	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant

Show/Hide all (62)

miRTarBase ID	miRNA	Experiments
MIRT778856	hsa-miR-3143	CLIP-seq
MIRT778857	hsa-miR-3686	CLIP-seq
MIRT778858	hsa-miR-371-5p	CLIP-seq
MIRT778859	hsa-miR-371b-5p	CLIP-seq
MIRT778860	hsa-miR-4668-3p	CLIP-seq
MIRT778861	hsa-miR-4699-3p	CLIP-seq
MIRT778862	hsa-miR-4742-3p	CLIP-seq
MIRT778863	hsa-miR-4803	CLIP-seq
MIRT778864	hsa-miR-513c	CLIP-seq
MIRT778865	hsa-miR-514b-5p	CLIP-seq
MIRT1929899	hsa-miR-140-3p	CLIP-seq
MIRT1929900	hsa-miR-2964a-5p	CLIP-seq
MIRT1929901	hsa-miR-3157-5p	CLIP-seq
MIRT1929902	hsa-miR-4276	CLIP-seq
MIRT1929903	hsa-miR-4521	CLIP-seq
MIRT1929904	hsa-miR-4677-3p	CLIP-seq
MIRT1929905	hsa-miR-4679	CLIP-seq
MIRT1929906	hsa-miR-4682	CLIP-seq
MIRT1929907	hsa-miR-4691-3p	CLIP-seq
MIRT1929908	hsa-miR-4729	CLIP-seq
MIRT1929909	hsa-miR-4765	CLIP-seq
MIRT1929910	hsa-miR-616	CLIP-seq
MIRT1929911	hsa-miR-760	CLIP-seq
MIRT2384091	hsa-miR-132	CLIP-seq
MIRT2384092	hsa-miR-212	CLIP-seq
MIRT2384093	hsa-miR-4503	CLIP-seq
MIRT1929899	hsa-miR-140-3p	CLIP-seq
MIRT2473377	hsa-miR-29a	CLIP-seq
MIRT2473378	hsa-miR-29b	CLIP-seq
MIRT2473379	hsa-miR-29c	CLIP-seq
MIRT2473380	hsa-miR-31	CLIP-seq
MIRT2473381	hsa-miR-3120-5p	CLIP-seq
MIRT2473382	hsa-miR-3152-5p	CLIP-seq
MIRT2473383	hsa-miR-3200-5p	CLIP-seq
MIRT2473384	hsa-miR-335	CLIP-seq
MIRT2473385	hsa-miR-370	CLIP-seq
MIRT2473386	hsa-miR-3920	CLIP-seq
MIRT2473387	hsa-miR-4292	CLIP-seq
MIRT2473388	hsa-miR-4314	CLIP-seq
MIRT2473389	hsa-miR-4424	CLIP-seq
MIRT2473390	hsa-miR-4520a-3p	CLIP-seq
MIRT2473391	hsa-miR-4520b-3p	CLIP-seq
MIRT1929903	hsa-miR-4521	CLIP-seq
MIRT2473392	hsa-miR-4653-3p	CLIP-seq
MIRT1929906	hsa-miR-4682	CLIP-seq
MIRT1929908	hsa-miR-4729	CLIP-seq
MIRT2473393	hsa-miR-4738-3p	CLIP-seq
MIRT2473394	hsa-miR-4763-5p	CLIP-seq
MIRT1929909	hsa-miR-4765	CLIP-seq
MIRT2473395	hsa-miR-4774-3p	CLIP-seq
MIRT1929910	hsa-miR-616	CLIP-seq
MIRT2473396	hsa-miR-626	CLIP-seq
MIRT1929911	hsa-miR-760	CLIP-seq
MIRT2473397	hsa-miR-767-5p	CLIP-seq
MIRT1929899	hsa-miR-140-3p	CLIP-seq
MIRT1929903	hsa-miR-4521	CLIP-seq
MIRT2674908	hsa-miR-4659a-3p	CLIP-seq
MIRT2674909	hsa-miR-4659b-3p	CLIP-seq
MIRT1929906	hsa-miR-4682	CLIP-seq
MIRT1929909	hsa-miR-4765	CLIP-seq
MIRT2674910	hsa-miR-4778-3p	CLIP-seq
MIRT1929911	hsa-miR-760	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IBA
GO:0000049	Function	TRNA binding	IDA	22065580
GO:0002098	Process	TRNA wobble uridine modification	IBA
GO:0002098	Process	TRNA wobble uridine modification	IDA	21285950
GO:0002098	Process	TRNA wobble uridine modification	IEA
GO:0002098	Process	TRNA wobble uridine modification	IMP	31079898
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005506	Function	Iron ion binding	ISS
GO:0005515	Function	Protein binding	IPI	20123966, 20308323, 32296183, 32814053, 34948388
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20308323
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	34948388
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	20308323
GO:0006974	Process	DNA damage response	IDA	20308323
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IDA	22065580
GO:0008757	Function	S-adenosylmethionine-dependent methyltransferase activity	IEA
GO:0016300	Function	TRNA (uridine) methyltransferase activity	IDA	20308323
GO:0016300	Function	TRNA (uridine) methyltransferase activity	IEA
GO:0016706	Function	2-oxoglutarate-dependent dioxygenase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030488	Process	TRNA methylation	IBA
GO:0030488	Process	TRNA methylation	IDA	20308323
GO:0030488	Process	TRNA methylation	IEA
GO:0030488	Process	TRNA methylation	IMP	31079898
GO:0032259	Process	Methylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046914	Function	Transition metal ion binding	IEA
GO:0106335	Function	TRNA (5-carboxymethyluridine(34)-5-O)-methyltransferase activity	IBA
GO:0106335	Function	TRNA (5-carboxymethyluridine(34)-5-O)-methyltransferase activity	IEA

MIM	HGNC	e!Ensembl
613306	25189	ENSG00000137760

Q96BT7

Protein name

tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8 (EC 2.1.1.229) (Alkylated DNA repair protein alkB homolog 8) (Alpha-ketoglutarate-dependent dioxygenase ALKBH8) (S-adenosyl-L-methionine-dependent tRNA methyltransferase ALKBH8)

Protein function

Catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its methyltransferase domain (PubMed:20123966, PubMed:20308323, PubMed:31079898). Catalyzes the last s

PDB

2CQ2 , 3THP , 3THT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09004	DUF1891	1 → 37	Domain of unknown function (DUF1891)	Domain
PF13532	2OG-FeII_Oxy_2	136 → 334	2OG-Fe(II) oxygenase superfamily	Domain
PF08241	Methyltransf_11	411 → 501	Methyltransferase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest expression in spleen, followed by pancreas and lung. {ECO:0000269|PubMed:17979886}.

Sequence

MDSNHQSNYKLSKTEKKFLRKQIKAKHTLLRHEGIETVSYATQSLVVANGGLGNGVSRNQ
LLPVLEKCGLVDALLMPPNKPYSFARYRTTEESKRAYVTLNGKEVVDDLGQKITLYLNFV
EKVQWKELRPQALPPGLMVVEEIISSEEEKMLLESVDWTEDTDNQNSQKSLKHRRVKHFG
YEFHYENNNVDKDKPLSGGLPDICESFLEKWLRKGYIKHKPDQMTINQYEPGQGIPAHID
THSAFEDEIVSLSLGSEIVMDFKHPDGIAVPVMLPRRSLLVMTGESRYLWTHGITCRKFD
TVQASESLKSGIITSDVGDLTLSKRGLRTSFTFRKVRQTPCNCSYPLVCDSQRKETPPSF
PESDKEASRLEQEYVHQVYEEIAGHFSSTRHTPWPHIVEFLKALPSGSIVADIGCGNGKY
LGINKELYMIGCDRSQNLVDICRERQFQAFVCDALAVPVRSGSCDACISIAVIHHFATAE
RRVAALQEIVRLLRPGGKALIYVWAMEQEYNKQKSKYLRGNRNSQGKKEEMNSDTSVQRS
LVEQMRDMGSRDSASSVPRINDSQEGGCNSRQVSNSKLPVHVNRTSFYSQDVLVPWHLKG
NPDKGKPVEPFGPIGSQDPSPVFHRYYHVFREGELEGACRTVSDVRILQSYYDQGNWCVI
LQKA

Sequence length

664

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual developmental disorder, autosomal recessive 71	Likely pathogenic; Pathogenic	rs1565312540, rs2496312636, rs1315421427, rs1591267688, rs1591234203	RCV001775319 RCV002291263 RCV003148510 RCV003990471 RCV000788046

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ALKBH8-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs654093, rs12574614, rs645056, rs183627082, rs193041881, rs188662625, rs141992032, rs61746596, rs140335911, rs116578571, rs79011605, rs117249984, rs200942712, rs17107135, rs370685130 View all (6 more)	RCV003966178 RCV003980683 RCV003983974 RCV003916444 RCV003926759 RCV003966295 RCV003966298 RCV003929035 RCV003946631 RCV003939275 RCV003919758 RCV003919770 RCV003929814 RCV003916927 RCV003933985 RCV003939725 RCV003937070 RCV003959067 RCV003971407 RCV003969778 RCV003968341
Cervical cancer	Benign	rs61749473	RCV005933187
Colon adenocarcinoma	Likely benign	rs140335911	RCV005927679
Colorectal cancer	Likely benign	rs140335911	RCV005927680
Familial cancer of breast	Likely benign	rs140335911	RCV005927678
Gastric cancer	Likely benign	rs151317361	RCV005939482
Hepatocellular carcinoma	Benign	rs654093, rs12574614	RCV005916080 RCV005916082
Lung cancer	Benign	rs654093, rs12574614	RCV005916081 RCV005916084
Malignant tumor of esophagus	Uncertain significance	rs201497980	RCV005930252
Melanoma	Likely benign	rs151317361	RCV005939483
Ovarian serous cystadenocarcinoma	Benign	rs12574614, rs61749473	RCV005916083 RCV005933188
See cases	Uncertain significance	rs759043596	RCV002252900
Uterine corpus endometrial carcinoma	Benign	rs61749473	RCV005933189

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cognitive Dysfunction	Associate	31079898
Congenital Abnormalities	Associate	33544954
Deafness Autosomal Recessive 71	Associate	33544954
Developmental Disabilities	Associate	33544954
Disease	Associate	33544954
Intellectual Disability	Associate	31079898, 33544954
Mental Retardation Autosomal Recessive 7	Associate	33544954
Osteoarthritis	Associate	37006267
Syndrome	Associate	33544954

ALKBH8 (alkB homolog 8, tRNA methyltransferase)