Gene Gene information from NCBI Gene database.
Entrez ID 375248
Gene name Ankyrin repeat domain 36
Gene symbol ANKRD36
Synonyms (NCBI Gene)
UNQ2430
Chromosome 2
Chromosome location 2q11.2
miRNA miRNA information provided by mirtarbase database.
193
miRTarBase ID miRNA Experiments Reference
MIRT706789 hsa-miR-3664-5p HITS-CLIP 21572407
MIRT706787 hsa-miR-4639-3p HITS-CLIP 21572407
MIRT706788 hsa-miR-3155a HITS-CLIP 21572407
MIRT706786 hsa-miR-3155b HITS-CLIP 21572407
MIRT706785 hsa-miR-484 HITS-CLIP 21572407
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620262 24079 ENSG00000135976
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6QL64
Protein name Ankyrin repeat domain-containing protein 36A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 36 128 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 135 227 Ankyrin repeats (3 copies) Repeat
PF14915 CCDC144C 1537 1828 CCDC144C protein coiled-coil region Coiled-coil
Sequence
MEDGKRERWPTLMERLCSDGFAFPQYPIKPYHLKRIHRAVLHGNLEKLKYLLLTYYDANK
RDRKERTALHLACATGQPEMVHLLVSRRCELNLCDREDRTPLIKAVQLRQEACATLLLQN
GANPNITD
FFGRTALHYAVYNEDTSMIEKLLSHGTNIEECSKCEYQPLLFAVSRRKVKMV
EFLLKKKANVNAIDYLGRSALIHAVTLGEKDIVILLLQHNIDVLSRD
AFRKIAGDYAIEA
KNRVIFDLIYEYERKRYEDLPINSNPVSSQKQPALKATSGKEDSISNIATEIKDGQKSGT
VSSQKQPALKDTSDKDDSVSNTATEIKDEQKSGTVLPAVEQCLNRSLYRPDAVAQPVTEN
EFSLESEIISKLYIPKRKIISPRSIKDVLPPVEEAVDRCLYLLDRFAQPVTKDKFALESE
NISEPYFTNRRTISQQSAENLDAACGIDKTENGNMFEDQNVDKEGKALPATGQKANVSPE
QPPLFTHTVKDRDHISTRFLGGMDSLTSSEESSERPPLSTLTLKEADPSSKAAMRRKDSP
PPGKVSSQKQPAEKATSDDKDSVSNIATEIKEGPISGTVSSQKQPAEKATSDEKDSVSNI
ATEIKKGQQSGTVSPQKQSAWKVIFKKKVSLLNIATRIMGGGKSGTVSSQKQPASKATSD
KTDSALNIATEIKDGLQCGTVSSQKQPALKATTDEEDSVSNIATEIKDGEKSGTVSSQKQ
PALKATTDEEDSVSNIATEIKDGEKSGTVSSQKQPALKATTDEKDSVSNIATEIKDGEKS
GTVSSQKPPALTATSDEEGSVLSIARENKDGEKSRTVSSRKKPALKATSDEKDSFSNITR
GKKDGEISRKVSSQKPPTLKGTSDEEDSVLGIARENKDGEKSRTVSSEKPPGLKASSAEK
DSVLNIARGKKDGEKTKRVSSRKKPSLEATSDEKDSFSNITREKKDGEISRKVSSQKPPA
LKGTSDEEDSVLGIARENKDGEKSRTVSSEKPPGLKATSDEKDSVLNIARGKKDGEKTRT
VSSQKPPTLKATSDEEDSVLSIARENKDGEKSRTVSSEKPSGLKATSAEKDSVLNIARGK
KYGEKTKRVSSRKKPALKATSDEKDSVLYIAREKKDGEKSRTVSSPKQPALKAICDKEDS
VPNMATEKKDEQISGTVSCQKQPALKATSDKKDSVSNIPTEIKDGQQSGTVSSQKQPAWK
ATSVKKDSVSNIATEIKDGQIRGTVSPQKQSAQKVIFKKKVSLLNIATRITGGWKSGTEY
PENLPTLKATIENKNSVLNTATKMKDVQTSTPAEQDLEMASEGEQKRLEEYENNQPQVKN
QIHSRDDLDDIIQSSQTVSEDGDSLCCNCKNVILLIDQHEMKCKDCVHLLKIKNTFCLWK
RLIKLKDNHCEQLRVKIRKLKNKASVLQKRISEKEEIKSQLKHEILELEKELCSLRFAIQ
QEKKKRRNVEEVHQKVREKLRITEEQYRIEADVTKPIKPALKSAEVELKTGGNNSNQVSE
TDEKEDLLHENRLMQDEIARLRLEKDTIKNQNLEKKYLKDFEIVKRKHEDLQKALKRNGE
TLAKTIACYSGQLAALTDENTTLRSKLEKQRESRQRLETEMQSYHCRLNAARCDHDQSHS
SKRDQELAFQGTVDKCRHLQENLNSHVLILSLQLSKAESKSRVLKTELHYTGEALKEKAL
VFEHVQSELKQKQSQMKDIEKMYKSGYNTMEKCIEKQERFCQLKKQNMLLQQQLDDARNK
ADNQEKAILNIQARCDARVQNLQAECRKHRLLLEEDNKMLVNELNHSKEKECQYEKEKAE
REVAVRQLQQKRDDVLNKGSATKALLDA
SSRHCTYLENGMQDSRKKLDQMRSQFQEIQDQ
LTATIRCTKEMEGDTQKLEVEHVMMRKIIKKQDDQIERLEKILQHSSLMLQVFES
Sequence length 1915
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hearing loss, autosomal recessive Likely pathogenic rs534494159, rs200852589 RCV001250407
RCV001250406
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus Likely pathogenic rs200852589 RCV005908902
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
Acromesomelic dysplasia 2B Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Oligosynaptic infertility Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Atherosclerosis Associate 37681455
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 37818090
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 29968393
★☆☆☆☆
Found in Text Mining only
Carcinoma Signet Ring Cell Associate 36779496
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 33184803, 37681455
★☆☆☆☆
Found in Text Mining only
Purpura Thrombotic Thrombocytopenic Associate 33184803
★☆☆☆☆
Found in Text Mining only
Vascular Diseases Associate 37681455
★☆☆☆☆
Found in Text Mining only