ANKRD30BL

Summary

ANKRD30BL (ankyrin repeat domain 30B like, HGNC:35167) is a protein-coding gene on chromosome 2q21.2, encoding Putative ankyrin repeat domain-containing protein 30B-like (A7E2S9).

At a glance

• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_001358416

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:35167
Approved symbol	ANKRD30BL
Name	ankyrin repeat domain 30B like
Location	2q21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000163046
Ensembl biotype	protein_coding
Entrez	554226

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 protein_coding, 1 retained_intron

ENST00000295181, ENST00000409867, ENST00000465868, ENST00000470729, ENST00000471048, ENST00000481691

RefSeq mRNA: 1 — MANE Select: NM_001358416 NM_001358416

CCDS: CCDS86883

Canonical transcript exons

ENST00000409867 — 6 exons

Exon	Start	End
ENSE00003514617	132150912	132150976
ENSE00003517391	132154662	132154768
ENSE00003518234	132156973	132157146
ENSE00003624905	132147591	132148228
ENSE00003680372	132157309	132157423
ENSE00003914415	132161488	132161952

Expression profiles

Bgee: expression breadth ubiquitous, 105 present calls, max score 99.14.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0502 / max 5.1871, expressed in 31 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
30664	0.0501	31
30663	0.0001	0

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	99.14	gold quality
bone marrow cell	CL:0002092	98.92	gold quality
right testis	UBERON:0004534	85.60	gold quality
left testis	UBERON:0004533	85.49	gold quality
testis	UBERON:0000473	84.64	gold quality
tonsil	UBERON:0002372	84.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.63	gold quality
sural nerve	UBERON:0015488	72.66	gold quality
bone marrow	UBERON:0002371	70.78	gold quality
nucleus accumbens	UBERON:0001882	67.27	gold quality
prefrontal cortex	UBERON:0000451	66.57	gold quality
anterior cingulate cortex	UBERON:0009835	66.03	gold quality
superior frontal gyrus	UBERON:0002661	66.01	gold quality
hypothalamus	UBERON:0001898	65.46	gold quality
frontal cortex	UBERON:0001870	65.21	gold quality
frontal lobe	UBERON:0016525	65.21	gold quality
caudate nucleus	UBERON:0001873	64.87	gold quality
amygdala	UBERON:0001876	64.81	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	64.77	gold quality
cerebral cortex	UBERON:0000956	64.76	gold quality
temporal lobe	UBERON:0001871	64.73	gold quality
Brodmann (1909) area 9	UBERON:0013540	64.57	gold quality
putamen	UBERON:0001874	63.93	gold quality
Ammon’s horn	UBERON:0001954	63.82	gold quality
right frontal lobe	UBERON:0002810	63.09	gold quality
corpus callosum	UBERON:0002336	62.83	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	62.46	silver quality
skeletal muscle tissue	UBERON:0001134	62.44	gold quality
right uterine tube	UBERON:0001302	62.28	gold quality
substantia nigra	UBERON:0002038	61.24	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	59.99
E-MTAB-9067	yes	55.56
E-HCAD-25	yes	10.01
E-ANND-3	yes	4.41
E-MTAB-7381	no	718.96
E-MTAB-6386	no	234.06

Regulation

Is transcription factor: no

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-272n13.3	ENSDARG00000099768
drosophila_melanogaster	CG8679	FBGN0032934
drosophila_melanogaster	CG42391	FBGN0259737
caenorhabditis_elegans	lem-3	WBGENE00002276
caenorhabditis_elegans		WBGENE00019483
caenorhabditis_elegans		WBGENE00206377

Paralogs (7): ANKRD26 (ENSG00000107890), ANKRD30A (ENSG00000148513), ANKRD18A (ENSG00000180071), ANKRD30B (ENSG00000180777), ANKRD62 (ENSG00000181626), ANKRD18B (ENSG00000230453), ANKRD20A1 (ENSG00000260691)

Protein

Protein identifiers

Putative ankyrin repeat domain-containing protein 30B-like — A7E2S9 (reviewed: A7E2S9)

All UniProt accessions (1): A7E2S9

UniProt curated annotations — full annotation on UniProt →

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 ID	Names	Canonical?
A7E2S9-1	1	yes
A7E2S9-2	2

RefSeq proteins (1): NP_001345345* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR050657

Pfam: PF00023, PF12796

UniProt features (10 total): repeat 4, region of interest 2, compositionally biased region 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A7E2S9-F1	79.79	0.51

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 14 (showing top): NFKBIA_TARGET_GENES, SRPK2_TARGET_GENES, GSE13485_CTRL_VS_DAY3_YF17D_VACCINE_PBMC_UP, GSE13485_DAY1_VS_DAY3_YF17D_VACCINE_PBMC_UP, GSE13485_DAY3_VS_DAY21_YF17D_VACCINE_PBMC_DN, BUSSLINGER_DUODENAL_TUFT_CELLS, HOEK_T_CELL_2011_2012_TIV_ADULT_7DY_UP, HOEK_NK_CELL_2011_2012_TIV_ADULT_7DY_UP, HOEK_T_CELL_2011_2012_TIV_ADULT_1DY_UP, HOEK_NK_CELL_2011_2012_TIV_3D_VS_0DY_ADULT_3D_DN, GSE26928_NAIVE_VS_EFF_MEMORY_CD4_TCELL_DN, chr10q11, chr2q21, GSE45365_WT_VS_IFNAR_KO_CD11B_DC_DN

GO Biological Process (2): spliceosomal tri-snRNP complex assembly (GO:0000244), formation of quadruple SL/U4/U5/U6 snRNP (GO:0000353)

GO Molecular Function (2): protein binding (GO:0005515), U4 snRNA binding (GO:0030621)

GO Cellular Component (2): U6 snRNP (GO:0005688), U4/U6 x U5 tri-snRNP complex (GO:0046540)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
spliceosomal snRNP assembly	1
protein-RNA complex assembly	1
mRNA trans splicing, SL addition	1
binding	1
snRNA binding	1
spliceosomal snRNP complex	1
Lsm2-8 complex	1
U5 snRNP	1
U4/U6 snRNP	1
spliceosomal tri-snRNP complex	1

Protein interactions and networks

STRING

844 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD30BL	STPG4	Q8N801	528
ANKRD30BL	SUGP1	Q8IWZ8	488
ANKRD30BL	TRIM48	Q8IWZ4	393
ANKRD30BL	SLC6A16	Q9GZN6	370
ANKRD30BL	ENTREP1	Q15884	352
ANKRD30BL	FRMD1	Q8N878	349
ANKRD30BL	SPAG8	Q99932	348
ANKRD30BL	PHACTR2	O75167	314
ANKRD30BL	PCMTD1	Q96MG8	291
ANKRD30BL	MBOAT1	Q6ZNC8	290
ANKRD30BL	ACOT13	Q9NPJ3	264
ANKRD30BL	COPS4	Q9BT78	257
ANKRD30BL	KIF21A	Q7Z4S6	256
ANKRD30BL	AOPEP	Q8N6M6	253
ANKRD30BL	DCAF6	Q58WW2	252
ANKRD30BL	PMF1	Q6P1K2	252

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0PJZ0, A6NHY2, A7E2S9, C7B178, D3J162, G5E8K5, P42570, P42773, P53355, Q08E43, Q10311, Q14DN9, Q18297, Q2T9W8, Q3EC11, Q4R3S3, Q4R544, Q4UJC4, Q4UJJ2, Q5EFR1, Q5I126, Q5I148, Q5I155, Q5I159, Q5I160, Q5R6D7, Q5RCK5, Q5TYM7, Q5VYY1, Q60772, Q60773, Q6XJU9, Q80YE7, Q86WC6, Q91ZT9, Q91ZU0, Q92527, Q9BGT9, Q9CQM6, Q9D119

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, Q8N2N9, Q8NF67, Q96IX9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

986 predictions. Top by Δscore:

Variant	Effect	Δscore
2:132153534:AG:A	donor_gain	1.0000
2:132153555:A:AC	donor_gain	1.0000
2:132153556:G:C	donor_gain	1.0000
2:132153583:A:C	donor_gain	1.0000
2:132153608:G:C	donor_gain	1.0000
2:132154674:T:C	donor_gain	1.0000
2:132156968:TCTAC:T	donor_loss	1.0000
2:132156969:CTA:C	donor_loss	1.0000
2:132156970:TAC:T	donor_loss	1.0000
2:132156971:A:C	donor_loss	1.0000
2:132156972:C:CG	donor_loss	1.0000
2:132148226:CTT:C	acceptor_gain	0.9900
2:132148229:C:CC	acceptor_gain	0.9900
2:132150975:CG:C	acceptor_gain	0.9900
2:132150977:C:CC	acceptor_gain	0.9900
2:132150979:A:C	acceptor_gain	0.9900
2:132150981:G:C	acceptor_gain	0.9900
2:132150983:A:C	acceptor_gain	0.9900
2:132153587:T:A	donor_gain	0.9900
2:132153690:CTGTG:C	acceptor_gain	0.9900
2:132153695:C:CC	acceptor_gain	0.9900
2:132154657:TATA:T	donor_loss	0.9900
2:132154658:ATACC:A	donor_loss	0.9900
2:132154659:TACCA:T	donor_loss	0.9900
2:132154660:A:C	donor_loss	0.9900
2:132154672:TATCA:T	donor_gain	0.9900
2:132154673:AT:A	donor_gain	0.9900
2:132154673:ATCAA:A	donor_gain	0.9900
2:132154722:T:A	donor_gain	0.9900
2:132154727:A:AC	donor_gain	0.9900

AlphaMissense

1708 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:132156976:G:C	N168K	0.953
2:132156976:G:T	N168K	0.953
2:132157075:A:C	D135E	0.945
2:132157075:A:T	D135E	0.945
2:132154707:A:G	L190S	0.942
2:132157010:A:G	L157S	0.939
2:132157047:C:G	A145P	0.938
2:132161569:G:T	A46D	0.926
2:132157077:C:G	D135H	0.925
2:132157404:A:G	C80R	0.924
2:132156977:T:A	N168I	0.922
2:132154709:A:C	F189L	0.919
2:132154709:A:T	F189L	0.919
2:132154711:A:G	F189L	0.919
2:132154744:C:G	A178P	0.919
2:132157043:A:T	V146D	0.916
2:132161499:A:C	D69E	0.915
2:132161499:A:T	D69E	0.915
2:132154743:G:T	A178D	0.908
2:132157046:G:T	A145D	0.908
2:132161643:G:C	F21L	0.905
2:132161643:G:T	F21L	0.905
2:132161645:A:G	F21L	0.905
2:132161501:C:G	D69H	0.903
2:132154667:A:C	F203L	0.895
2:132154667:A:T	F203L	0.895
2:132154669:A:G	F203L	0.895
2:132156978:T:A	N168Y	0.894
2:132157063:G:C	N139K	0.891
2:132157063:G:T	N139K	0.891

dbSNP variants (sampled 300 via entrez): RS1000031344 (2:132213457 T>A,C), RS1000102924 (2:132184230 G>A), RS1000167009 (2:132259567 C>T), RS1000223895 (2:132226559 C>A,T), RS1000252753 (2:132160431 A>G,T), RS1000286316 (2:132199466 C>A,T), RS1000295030 (2:132187002 A>G), RS1000295614 (2:132232090 G>A), RS1000327154 (2:132187318 G>A,C), RS1000357340 (2:132215930 A>T), RS1000387634 (2:132224443 T>C), RS1000388429 (2:132214845 A>C,G,T), RS1000394570 (2:132228657 A>C,G), RS1000405687 (2:132228868 A>G,T), RS1000447709 (2:132193340 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, increases expression	2
Valproic Acid	affects expression, increases methylation	2
Aflatoxin B1	decreases expression, decreases methylation, increases expression	2
ethyl-p-hydroxybenzoate	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
jinfukang	increases expression	1
Benzo(a)pyrene	increases expression	1
1-Methyl-4-phenylpyridinium	decreases expression	1

Clinical trials (associated diseases)

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