ANKRD30B

gene
On this page

Also known as NY-BR-1.1

Summary

ANKRD30B (ankyrin repeat domain 30B, HGNC:24165) is a protein-coding gene on chromosome 18p11.21, encoding Ankyrin repeat domain-containing protein 30B (Q9BXX2).

At a glance

  • GWAS associations: 4
  • Clinical variants (ClinVar): 236 total
  • MANE Select transcript: NM_001367607

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24165
Approved symbolANKRD30B
Nameankyrin repeat domain 30B
Location18p11.21
Locus typegene with protein product
StatusApproved
AliasesNY-BR-1.1
Ensembl geneENSG00000180777
Ensembl biotypeprotein_coding
OMIM616565
Entrez374860

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000320584, ENST00000358984, ENST00000579292, ENST00000580206, ENST00000665241, ENST00000690538, ENST00000906954

RefSeq mRNA: 1 — MANE Select: NM_001367607 NM_001367607

CCDS: CCDS92441

Canonical transcript exons

ENST00000690538 — 44 exons

ExonStartEnd
ENSE000016061571478446314784535
ENSE000016191321475489914755005
ENSE000016213991476368614764090
ENSE000016266271475256614752680
ENSE000016291261479622114796249
ENSE000016318991483721114837289
ENSE000016697101478433614784364
ENSE000016728771477996014780021
ENSE000016764711475283914753012
ENSE000016869341477215614772228
ENSE000017238001478252714782614
ENSE000017362081478703914787100
ENSE000017421331483138314831455
ENSE000017434561477798514778075
ENSE000017455131475781514757952
ENSE000017497921482827814828308
ENSE000017751641476055414760618
ENSE000017842361482260514822677
ENSE000017847821476934314769373
ENSE000017853421479140114791491
ENSE000026934501485150914852420
ENSE000034645351480221714802278
ENSE000034720951484871614848929
ENSE000034776501479922314799295
ENSE000034908191484289714842925
ENSE000034912401479778214797854
ENSE000035079961479910114799129
ENSE000035181631480855114808579
ENSE000035346271479766114797689
ENSE000035684911480373414803824
ENSE000035817291485021414850382
ENSE000035879001483761514837676
ENSE000036199091479634314796415
ENSE000036344161484302414843096
ENSE000036492471484058814840678
ENSE000039227261480867214808744
ENSE000039303021485380914853943
ENSE000039304171481462114814711
ENSE000039326131481310414813165
ENSE000039342661481010814810180
ENSE000039346461474817214748640
ENSE000039375361485419214854667
ENSE000039378511480998614810014
ENSE000039386291482248314822511

Expression profiles

Bgee: expression breadth ubiquitous, 105 present calls, max score 93.75.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1569 / max 85.7061, expressed in 36 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1695850.104931
1695860.05209

Top tissues by expression

218 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
buccal mucosa cellCL:000233693.75gold quality
sural nerveUBERON:001548888.48gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047384.65gold quality
left testisUBERON:000453380.27gold quality
testisUBERON:000047378.07gold quality
right testisUBERON:000453477.82gold quality
tibial nerveUBERON:000132375.11gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099169.07gold quality
right frontal lobeUBERON:000281065.30gold quality
Brodmann (1909) area 9UBERON:001354065.03gold quality
adrenal tissueUBERON:001830364.69gold quality
nucleus accumbensUBERON:000188263.74gold quality
anterior cingulate cortexUBERON:000983562.75gold quality
dorsolateral prefrontal cortexUBERON:000983460.79gold quality
hypothalamusUBERON:000189859.38gold quality
prefrontal cortexUBERON:000045158.83gold quality
neocortexUBERON:000195058.26gold quality
frontal cortexUBERON:000187057.90gold quality
caudate nucleusUBERON:000187357.35gold quality
lower lobe of lungUBERON:000894957.23silver quality
cortical plateUBERON:000534356.87gold quality
rectumUBERON:000105255.93gold quality
cerebral cortexUBERON:000095655.38gold quality
amygdalaUBERON:000187653.87gold quality
putamenUBERON:000187453.61gold quality
forebrainUBERON:000189053.22gold quality
body of pancreasUBERON:000115052.39gold quality
colonic epitheliumUBERON:000039751.11gold quality
lateral nuclear group of thalamusUBERON:000273651.10gold quality
substantia nigraUBERON:000203850.57gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-GEOD-75688yes1034.17
E-ANND-3yes6.50

Regulation

Is transcription factor: no

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_reriosi:ch211-272n13.3ENSDARG00000099768
drosophila_melanogasterCG8679FBGN0032934
drosophila_melanogasterCG42391FBGN0259737
caenorhabditis_eleganslem-3WBGENE00002276
caenorhabditis_elegansWBGENE00019483
caenorhabditis_elegansWBGENE00206377

Paralogs (7): ANKRD26 (ENSG00000107890), ANKRD30A (ENSG00000148513), ANKRD30BL (ENSG00000163046), ANKRD18A (ENSG00000180071), ANKRD62 (ENSG00000181626), ANKRD18B (ENSG00000230453), ANKRD20A1 (ENSG00000260691)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 30BQ9BXX2 (reviewed: Q9BXX2)

Alternative names: Serologically defined breast cancer antigen NY-BR-1.1

All UniProt accessions (3): A0A590UK20, A0A8I5KW82, Q9BXX2

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Expressed in brain, breast and testis.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (2)

UniProt IDNamesCanonical?
Q9BXX2-11yes
Q9BXX2-22

RefSeq proteins (1): NP_001354536* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002110Ankyrin_rptRepeat
IPR036770Ankyrin_rpt-contain_sfHomologous_superfamily
IPR039497CC144C-like_CC_domDomain
IPR050657

Pfam: PF12796, PF14915

UniProt features (31 total): region of interest 7, compositionally biased region 6, sequence conflict 6, repeat 5, coiled-coil region 2, splice variant 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9BXX2-F152.050.08

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 22 (showing top): MIR4291, MIR4272, MIR302B_5P, MIR302D_5P, GSE13485_DAY3_VS_DAY7_YF17D_VACCINE_PBMC_UP, JINESH_BLEBBISHIELD_VS_LIVE_CONTROL_UP, JINESH_BLEBBISHIELD_TRANSFORMED_STEM_CELL_SPHERES_DN, DESCARTES_MAIN_FETAL_IGFBP1_DKK1_POSITIVE_CELLS, THAKAR_PBMC_INACTIVATED_INFLUENZA_AGE_21_30YO_RESPONDERS_28DY_DN, NUYTTEN_EZH2_TARGETS_UP, GSE18791_UNSTIM_VS_NEWCATSLE_VIRUS_DC_1H_DN, chr18p11, KONIGORSKI_INCREASED_SUBCUTANEOUS_ADIPOSE_TISSUE_MASS_UP, GSE2405_0H_VS_3H_A_PHAGOCYTOPHILUM_STIM_NEUTROPHIL_DN, GSE2405_HEAT_KILLED_VS_LIVE_A_PHAGOCYTOPHILUM_STIM_NEUTROPHIL_24H_UP

GO Biological Process (1): biological_process (GO:0008150)

GO Molecular Function (2): molecular_function (GO:0003674), protein binding (GO:0005515)

GO Cellular Component (1): cellular_component (GO:0005575)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1

Protein interactions and networks

STRING

1439 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ANKRD30BBUD23O43709402
ANKRD30BZNF519Q8TB69367
ANKRD30BXRRA1Q6P2D8355
ANKRD30BCCDC73Q6ZRK6352
ANKRD30BFAM110CQ1W6H9348
ANKRD30BRFPL2O75678348
ANKRD30BDNHD1Q96M86336
ANKRD30BZNF337Q9Y3M9327
ANKRD30BPTGR3Q8N4Q0325
ANKRD30BDIPK1AQ5T7M9324
ANKRD30BAMN1Q8IY45321
ANKRD30BERICH3Q5RHP9312
ANKRD30BXIRP2A4UGR9311
ANKRD30BLRRC17Q8N6Y2297
ANKRD30BCCDC102BQ68D86290

IntAct

8 interactions, top by confidence:

ABTypeScore
TRIM44ODAD3psi-mi:“MI:0914”(association)0.530
E2F3psi-mi:“MI:0914”(association)0.350
Mpsi-mi:“MI:0914”(association)0.350
POLRMTpsi-mi:“MI:0914”(association)0.350
CFAP299UBBpsi-mi:“MI:0914”(association)0.350
ANKRD30ASCLT1psi-mi:“MI:0914”(association)0.350

BioGRID (13): ANKRD30B (Affinity Capture-MS), ANKRD30B (Affinity Capture-MS), ANKRD30B (Affinity Capture-MS), ANKRD30B (Affinity Capture-MS), ANKRD30B (Affinity Capture-MS), ANKRD30B (Affinity Capture-MS), NUDC (Cross-Linking-MS (XL-MS)), ANKRD30B (Cross-Linking-MS (XL-MS)), ANKRD30B (Cross-Linking-MS (XL-MS)), EEA1 (Cross-Linking-MS (XL-MS)), ANKRD30B (Affinity Capture-MS), ANKRD30B (Affinity Capture-RNA), ANKRD30B (Proximity Label-MS)

ESM2 similar proteins: A0A087WUL8, A0A0J9YWL9, A0A0J9YY54, A0A0U1RQI7, A6NJ88, A6QL64, B4DH59, D3ZVV1, E9Q6E9, F1LWT0, O04492, O88799, P0DKJ7, P0DKJ8, P0DKL2, P0DPF3, P18583, P53353, Q08AG5, Q0P6D6, Q2EG98, Q3BBV2, Q4ZJZ1, Q5HY64, Q5JPF3, Q5QGU6, Q5TAG4, Q5TI25, Q5XHX6, Q6P3W6, Q6P902, Q6XPR3, Q6ZQX7, Q86T75, Q86VE3, Q86VQ3, Q8N2N9, Q8N660, Q8N693, Q96EQ9

Diamond homologs: A0A0A6YYL3, A0JP26, A0PJZ0, A2A2Z9, A2RUR9, A5A3E0, A6NC57, A6NI47, A7E2S9, B2RU33, H3BUK9, P0CG38, P0CG39, Q3MJ40, Q4R3S3, Q4UJ75, Q5CZ79, Q5JPF3, Q5SQ80, Q5TYW2, Q5VUR7, Q6NSI1, Q6S545, Q6S5H5, Q6S8J3, Q6S8J7, Q811D2, Q86YR6, Q8IYA2, Q92527, Q9BXX2, Q9BXX3, Q9D504, Q9H560, Q9UPS8, Q8IVF6, A6QL64, Q6NUI1, Q8N2N9, Q8NF67

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

236 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance192
Likely benign25
Benign6

Top pathogenic / likely-pathogenic (0)

SpliceAI

5919 predictions. Top by Δscore:

VariantEffectΔscore
18:14757808:A:AGacceptor_gain1.0000
18:14757811:TTA:Tacceptor_loss1.0000
18:14757813:A:AGacceptor_gain1.0000
18:14757813:A:ATacceptor_loss1.0000
18:14757814:G:GTacceptor_gain1.0000
18:14757814:GC:Gacceptor_gain1.0000
18:14757814:GCA:Gacceptor_gain1.0000
18:14757814:GCAC:Gacceptor_gain1.0000
18:14757814:GCACA:Gacceptor_gain1.0000
18:14757946:T:Gdonor_gain1.0000
18:14757948:AATTA:Adonor_gain1.0000
18:14757949:ATTA:Adonor_gain1.0000
18:14757950:TTA:Tdonor_gain1.0000
18:14757951:TA:Tdonor_gain1.0000
18:14757952:AG:Adonor_loss1.0000
18:14757953:G:GAdonor_loss1.0000
18:14757953:G:GGdonor_gain1.0000
18:14757954:TAAGT:Tdonor_loss1.0000
18:14760551:T:Gacceptor_gain1.0000
18:14760552:A:AGacceptor_gain1.0000
18:14760553:G:GGacceptor_gain1.0000
18:14760553:GC:Gacceptor_gain1.0000
18:14771266:G:GTdonor_gain1.0000
18:14772154:A:AGacceptor_gain1.0000
18:14772155:G:GGacceptor_gain1.0000
18:14780021:GGTAT:Gdonor_gain1.0000
18:14782526:GA:Gacceptor_gain1.0000
18:14784451:A:AGacceptor_gain1.0000
18:14784452:A:Gacceptor_gain1.0000
18:14784461:A:AGacceptor_gain1.0000

AlphaMissense

10121 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
18:14754960:T:CL191S0.997
18:14757868:T:CL224P0.997
18:14752843:T:CL114P0.996
18:14752938:G:CA146P0.996
18:14754963:T:CL192P0.996
18:14752587:T:GC81W0.995
18:14752876:T:CL125P0.995
18:14752975:T:CL158P0.995
18:14754915:T:CL176P0.995
18:14754923:G:CA179P0.995
18:14757831:G:CA212P0.995
18:14760568:T:CL257P0.995
18:14752619:T:CL92P0.994
18:14752839:G:CA113P0.994
18:14752909:A:TD136V0.994
18:14752939:C:AA146D0.994
18:14752908:G:CD136H0.993
18:14752930:T:AL143H0.993
18:14752930:T:CL143P0.993
18:14752942:T:AV147D0.993
18:14754921:T:CL178P0.993
18:14757829:T:CL211P0.993
18:14757871:T:CL225P0.993
18:14752585:T:CC81R0.992
18:14752586:G:AC81Y0.992
18:14754927:T:AI180K0.992
18:14757823:T:CL209P0.992
18:14757835:T:AI213K0.992
18:14752582:G:CA80P0.991
18:14754912:C:AP175H0.991

dbSNP variants (sampled 300 via entrez): RS1000020993 (18:14924792 T>C), RS1000084161 (18:14759371 G>A), RS1000091331 (18:14913222 T>C), RS1000103897 (18:14935118 T>C,G), RS1000155273 (18:14760802 T>C,G), RS1000159629 (18:14876030 C>A,G,T), RS1000170027 (18:14936401 C>T), RS1000190047 (18:14829553 G>T), RS1000239711 (18:14910353 G>C), RS1000251223 (18:14822864 T>A,G), RS1000262212 (18:14869950 C>T), RS1000269809 (18:14899330 C>T), RS1000314405 (18:14870300 G>A), RS1000334892 (18:14912716 A>G), RS1000338274 (18:14809914 A>C,G)

Disease associations

OMIM: gene MIM:616565 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): breast ductal adenocarcinoma (MONDO:0005590), primary ovarian failure (MONDO:0005387)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

StudyTraitp-value
GCST003542_98Night sleep phenotypes9.000000e-06
GCST007100_11Asthma exacerbations in inhaled corticosteroid treatment3.000000e-06
GCST007100_15Asthma exacerbations in inhaled corticosteroid treatment1.000000e-06
GCST007844_7Ankylosing spondylitis9.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0007614asthma exacerbation measurement

MeSH disease descriptors (2)

DescriptorNameTree numbers
D018270Carcinoma, Ductal, BreastC04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D016649Primary Ovarian InsufficiencyC12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

ChemicalActions (top 5)PubMed papers
2-methyl-4-isothiazolin-3-oneincreases expression1
sodium arseniteincreases expression1
nickel sulfateincreases expression1
beta-methylcholineaffects expression1
ICG 001increases expression1
MT19c compounddecreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Resveratrolaffects cotreatment, decreases expression1
Decitabinedecreases expression, decreases reaction1
Air Pollutantsdecreases expression, increases abundance1
Benzo(a)pyrenedecreases methylation1
Copperaffects cotreatment, decreases expression1
Hydrogen Peroxideaffects expression1
Methylcholanthreneaffects binding, increases reaction1
Nickeldecreases expression1
Smokedecreases expression, decreases reaction1
Asbestos, Crocidolitedecreases expression1
Particulate Matterdecreases expression, increases abundance1

Clinical trials (associated diseases)

86 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00417066PHASE4COMPLETEDFlexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693PHASE4COMPLETEDEvaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616PHASE4COMPLETEDEstrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501PHASE4UNKNOWNEffects of ADSC Therapy in Women With POF
NCT02783937PHASE4COMPLETEDFilgrastim for Premature Ovarian Insufficiency
NCT03535480PHASE4UNKNOWNAutologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT03414970PHASE3ACTIVE_NOT_RECRUITINGHypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00140998PHASE3COMPLETEDEstrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00461344PHASE2TERMINATEDDocetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999PHASE2NOT_YET_RECRUITINGRandomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00001951PHASE2COMPLETEDHormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019PHASE2WITHDRAWNEffects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494PHASE2COMPLETEDGnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852PHASE2SUSPENDEDThe Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467PHASE2UNKNOWNPrevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982PHASE2COMPLETEDThe Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104PHASE1COMPLETEDA Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695PHASE1COMPLETEDInovium Ovarian Rejuvenation Trials
NCT04815213PHASE1ACTIVE_NOT_RECRUITINGThe Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367PHASE1COMPLETEDEffects of UCA-PSCs in Women With POF
NCT06132542PHASE1UNKNOWNAutologous ADMSC Transplantation in Patients With POI
NCT00637364PHASE1/PHASE2SUSPENDEDHigh Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855PHASE1/PHASE2COMPLETEDTalimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908EARLY_PHASE1COMPLETEDBroccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041EARLY_PHASE1COMPLETEDIntraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974Not specifiedACTIVE_NOT_RECRUITINGNipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198Not specifiedTERMINATEDOncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397Not specifiedUNKNOWNMRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532Not specifiedCOMPLETEDLiving Well After Breast Surgery
NCT00948857PHASE2/PHASE3TERMINATEDDehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456PHASE2/PHASE3RECRUITINGAutologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743PHASE1/PHASE2UNKNOWNAutologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931PHASE1/PHASE2UNKNOWNAutologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890PHASE1/PHASE2COMPLETEDPregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474PHASE1/PHASE2COMPLETEDIt is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744PHASE1/PHASE2UNKNOWNAutologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447PHASE1/PHASE2COMPLETEDTransplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209PHASE1/PHASE2UNKNOWNAutologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462PHASE1/PHASE2WITHDRAWNVery Small Embryonic-like Stem Cells for Ovary
NCT04009473PHASE1/PHASE2UNKNOWNStem Cell Therapy and Growth Factor Ovarian in Vitro Activation

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.