ANKRD40CL

Summary

ANKRD40CL (ANKRD40 C-terminal like, HGNC:26080) is a protein-coding gene on chromosome 17q21.33, encoding Putative ANKRD40 C-terminal-like protein (Q53H64).

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001358683

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26080
Approved symbol	ANKRD40CL
Name	ANKRD40 C-terminal like
Location	17q21.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20694
Ensembl gene	ENSG00000167117
Ensembl biotype	protein_coding
Entrez	55018

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 13 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000300458, ENST00000419688, ENST00000450727, ENST00000502517, ENST00000576150, ENST00000643007, ENST00000895515, ENST00000943667, ENST00000943668, ENST00000943669, ENST00000943670, ENST00000943671, ENST00000943672, ENST00000943673, ENST00000943674, ENST00000943675

RefSeq mRNA: 2 — MANE Select: NM_001358683 NM_001358683, NM_001411123

CCDS: CCDS86616, CCDS92359

Canonical transcript exons

ENST00000450727 — 4 exons

Exon	Start	End
ENSE00001669087	50761030	50761506
ENSE00001704985	50767463	50767518
ENSE00001709401	50763397	50763557
ENSE00003831191	50766874	50767011

Expression profiles

Bgee: expression breadth broad, 89 present calls, max score 95.30.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2731 / max 166.7423, expressed in 19 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166995	0.1935	18
166996	0.0796	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	95.30	gold quality
jejunal mucosa	UBERON:0000399	94.34	gold quality
duodenum	UBERON:0002114	91.57	gold quality
rectum	UBERON:0001052	89.96	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.43	gold quality
colonic mucosa	UBERON:0000317	84.55	gold quality
small intestine Peyer’s patch	UBERON:0003454	83.89	gold quality
small intestine	UBERON:0002108	83.49	gold quality
transverse colon	UBERON:0001157	81.65	gold quality
mucosa of sigmoid colon	UBERON:0004993	81.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.84	gold quality
secondary oocyte	CL:0000655	75.91	gold quality
jejunum	UBERON:0002115	74.15	gold quality
intestine	UBERON:0000160	73.90	gold quality
buccal mucosa cell	CL:0002336	72.34	silver quality
oocyte	CL:0000023	72.14	gold quality
ileal mucosa	UBERON:0000331	71.34	gold quality
ileum	UBERON:0002116	71.31	silver quality
large intestine	UBERON:0000059	70.71	gold quality
colonic epithelium	UBERON:0000397	70.15	gold quality
colon	UBERON:0001155	70.04	gold quality
vermiform appendix	UBERON:0001154	61.76	gold quality
gall bladder	UBERON:0002110	61.33	gold quality
smooth muscle tissue	UBERON:0001135	59.25	gold quality
caecum	UBERON:0001153	58.39	gold quality
mammary duct	UBERON:0001765	55.11	gold quality
epithelium of mammary gland	UBERON:0003244	54.92	gold quality
epithelial cell of pancreas	CL:0000083	49.31	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.82
E-GEOD-124858	no	6.85

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• Knock-down of Long non-coding RNA Linc00483 inhibited the development of cervical cancer by regulating miR-508-3p/RGS17 axis. (PMID:31454494)
• LINC00483 is regulated by IGF2BP1 and participates in the progression of breast cancer. (PMID:33629308)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankrd40	ENSDARG00000076490
mus_musculus	Ankrd40cl	ENSMUSG00000094091
rattus_norvegicus	Ankrd40cl	ENSRNOG00000045669

Paralogs (1): ANKRD40 (ENSG00000154945)

Protein

Protein identifiers

Putative ANKRD40 C-terminal-like protein — Q53H64 (reviewed: Q53H64)

All UniProt accessions (3): A0A2R8Y365, A0A2R8YGP7, Q53H64

RefSeq proteins (2): NP_001345612, NP_001398052 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039195	ANKRD40	Family

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q53H64-F1	78.33	0.35

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 15 (showing top): AAAGACA_MIR511, E2F2_TARGET_GENES, ELF2_TARGET_GENES, ZNF507_TARGET_GENES, DESCARTES_MAIN_FETAL_INTESTINAL_EPITHELIAL_CELLS, DESCARTES_FETAL_INTESTINE_INTESTINAL_EPITHELIAL_CELLS, DESCARTES_FETAL_STOMACH_MUC13_DMBT1_POSITIVE_CELLS, LHX2_TARGET_GENES, GSE18791_CTRL_VS_NEWCASTLE_VIRUS_DC_2H_DN, GSE21927_SPLENIC_C26GM_TUMOROUS_VS_BONE_MARROW_MONOCYTES_UP, GSE25502_WT_VS_KLF13_KO_THYMIC_MEMORY_LIKE_CD8_TCELL_DN, chr17q21, GSE37301_HEMATOPOIETIC_STEM_CELL_VS_PRO_BCELL_UP, PAX_Q6, GGGYGTGNY_UNKNOWN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

412 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD40CL	DOC2B	Q14184	370
ANKRD40CL	RTN4RL1	Q86UN2	367
ANKRD40CL	CATSPER1	Q8NEC5	355
ANKRD40CL	MIEN1	Q9BRT3	349
ANKRD40CL	PPP1R12C	Q9BZL4	348
ANKRD40CL	DDX17	Q92841	346
ANKRD40CL	DLX4	Q92988	322
ANKRD40CL	TRIM37	O94972	307
ANKRD40CL	AGGF1	Q8N302	304
ANKRD40CL	FMNL2	Q96PY5	297
ANKRD40CL	PREB	Q9HCU5	280
ANKRD40CL	SEC13	P55735	280
ANKRD40CL	ARCN1	P48444	279
ANKRD40CL	COPB2	P35606	279
ANKRD40CL	COPA	P53621	279

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0G2JXT6, A0A1B0GW35, A6H5X4, B9EK06, F4I7Y2, F6QZ15, J9SQF3, O35309, O82617, O88509, O95789, P0CL83, P0DOY1, P35125, P83946, P86265, Q02395, Q10NJ6, Q13287, Q1L721, Q1LZ50, Q2RBJ4, Q3SZ89, Q3ZCL3, Q4R6N0, Q53H64, Q569R5, Q5E9T7, Q5F476, Q5H9U9, Q5I0J8, Q5R7T9, Q6AXW4, Q7X7E9, Q7Z569, Q8BVM9, Q8L7A4, Q8TBR4, Q99388, Q9BWX1

Diamond homologs: Q53H64, Q5SUE8, Q6AI12, P0C0T2, Q05823, Q09103, Q3V096, Q4R7L8, Q5RCK5, Q5RD76, Q68DC2, Q6GQX6, Q9BQG2, Q8N9B4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

746 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:50763526:G:C	F24L	0.955
17:50763526:G:T	F24L	0.955
17:50763528:A:G	F24L	0.955
17:50763469:A:C	S43R	0.922
17:50763469:A:T	S43R	0.922
17:50763471:T:G	S43R	0.922
17:50763400:T:A	R66S	0.905
17:50763400:T:G	R66S	0.905
17:50763424:T:A	R58S	0.892
17:50763424:T:G	R58S	0.892
17:50763421:C:A	K59N	0.851
17:50763421:C:G	K59N	0.851
17:50763557:A:T	V14D	0.828
17:50761489:T:A	R73S	0.821
17:50761489:T:G	R73S	0.821
17:50763417:G:A	P61S	0.802
17:50763401:C:G	R66T	0.798
17:50763404:A:T	L65H	0.794
17:50763428:A:G	I57T	0.788
17:50763553:T:A	R15S	0.785
17:50763553:T:G	R15S	0.785
17:50763520:T:A	E26D	0.784
17:50763520:T:G	E26D	0.784
17:50763425:C:G	R58T	0.782
17:50763416:G:A	P61L	0.780
17:50761474:C:A	Q78H	0.777
17:50761474:C:G	Q78H	0.777
17:50763529:G:C	D23E	0.770
17:50763529:G:T	D23E	0.770
17:50761500:C:G	D70H	0.766

dbSNP variants (sampled 300 via entrez): RS1000075771 (17:50760661 G>A), RS1000209732 (17:50768714 C>T), RS1000304423 (17:50769010 T>A,C), RS1000317187 (17:50767002 G>A,T), RS1000357534 (17:50761966 G>A,T), RS1000641674 (17:50767704 G>A,C), RS1000722958 (17:50760593 A>G), RS1000792314 (17:50762272 G>A), RS1001193415 (17:50761433 A>T), RS1001374528 (17:50766658 T>C), RS1001625227 (17:50761845 A>G), RS1002009254 (17:50767060 G>A,C), RS1002379045 (17:50765158 A>G), RS1003387093 (17:50763475 G>A), RS1003416617 (17:50763781 T>A,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

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
bisphenol F	decreases methylation	1
butyraldehyde	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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