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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALKBH8-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19293182, 27329810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	27811057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19293182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19293182, 27329810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	31079898	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33544954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33544954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31079898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31079898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31079898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31079898, 33544954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	27811057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19293182, 27329810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19293182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	27811057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	27811057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	27811057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 7	Intellectual developmental disorder	Pubtator	33544954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37006267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ALKBH8 (alkB homolog 8, tRNA methyltransferase)