ANKRD7

Summary

ANKRD7 (ankyrin repeat domain 7, HGNC:18588) is a protein-coding gene on chromosome 7q31.31, encoding Ankyrin repeat domain-containing protein 7 (Q92527).

Predicted to act upstream of or within blastocyst hatching. Located in centrosome and nucleoplasm.

Source: NCBI Gene 56311 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 41 total — 1 likely-pathogenic
• MANE Select transcript: NM_019644

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18588
Approved symbol	ANKRD7
Name	ankyrin repeat domain 7
Location	7q31.31
Locus type	gene with protein product
Status	Approved
Aliases	TSA806
Ensembl gene	ENSG00000106013
Ensembl biotype	protein_coding
OMIM	610731
Entrez	56311

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000265224, ENST00000417525, ENST00000433239, ENST00000477532, ENST00000486422, ENST00000490445, ENST00000634332

RefSeq mRNA: 1 — MANE Select: NM_019644 NM_019644

CCDS: CCDS43638

Canonical transcript exons

ENST00000265224 — 7 exons

Exon	Start	End
ENSE00000881953	118239909	118239998
ENSE00001818380	118224704	118225009
ENSE00001855056	118242349	118242732
ENSE00003474054	118236790	118236926
ENSE00003540659	118236041	118236147
ENSE00003626840	118234701	118234874
ENSE00003636293	118234431	118234545

Expression profiles

Bgee: expression breadth ubiquitous, 169 present calls, max score 99.65.

FANTOM5 (CAGE): breadth broad, TPM avg 2.6516 / max 1703.7480, expressed in 494 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
80736	1.5898	4
80735	1.0405	493
80737	0.0174	3
80738	0.0038	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	99.65	gold quality
right testis	UBERON:0004534	99.60	gold quality
adult organism	UBERON:0007023	99.05	gold quality
sperm	CL:0000019	98.18	gold quality
male germ cell	CL:0000015	98.12	gold quality
testis	UBERON:0000473	97.08	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.63	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.51	gold quality
secondary oocyte	CL:0000655	81.98	gold quality
adrenal tissue	UBERON:0018303	74.90	gold quality
islet of Langerhans	UBERON:0000006	67.40	gold quality
metanephros cortex	UBERON:0010533	64.02	gold quality
body of pancreas	UBERON:0001150	62.66	gold quality
pancreas	UBERON:0001264	62.65	gold quality
right coronary artery	UBERON:0001625	62.12	gold quality
left adrenal gland	UBERON:0001234	61.27	gold quality
oocyte	CL:0000023	61.05	gold quality
adenohypophysis	UBERON:0002196	60.92	gold quality
left adrenal gland cortex	UBERON:0035825	60.69	gold quality
right adrenal gland	UBERON:0001233	60.31	gold quality
adrenal gland	UBERON:0002369	60.03	gold quality
prefrontal cortex	UBERON:0000451	59.20	gold quality
pituitary gland	UBERON:0000007	58.89	gold quality
adrenal cortex	UBERON:0001235	58.87	gold quality
right adrenal gland cortex	UBERON:0035827	58.72	gold quality
right atrium auricular region	UBERON:0006631	58.48	gold quality
cardiac atrium	UBERON:0002081	57.75	gold quality
cortex of kidney	UBERON:0001225	57.56	gold quality
cortical plate	UBERON:0005343	57.42	gold quality
calcaneal tendon	UBERON:0003701	57.32	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	6774.60
E-GEOD-124263	yes	3173.35
E-ANND-3	yes	4.85

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• evidence suggests that ANKRD7 and CYTL1 genes may play an important role in the variance in alcohol drinking risk (PMID:22613542)

Cross-species orthologs

0 orthologs

Paralogs (1): MTPN (ENSG00000105887)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 7 — Q92527 (reviewed: Q92527)

Alternative names: Testis-specific protein TSA806

All UniProt accessions (5): Q92527, A0A0U1RQQ7, A0A140VJE5, C9J2M7, C9JIJ7

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Testis specific.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92527-1	1	yes
Q92527-2	2

RefSeq proteins (1): NP_062618* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF12796

UniProt features (8 total): repeat 5, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92527-F1	83.97	0.62

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 60 (showing top): MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, GNF2_CCNA1, chr7q31, MODULE_220, KOYAMA_SEMA3B_TARGETS_DN, IL21_UP.V1_UP, HMGA1_TARGET_GENES, ZNF33A_TARGET_GENES, ZSCAN31_TARGET_GENES, MIR545_3P, MIR670_3P, MIR6740_3P, MIR5001_3P, MIR3674, MIR141_5P

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): nucleoplasm (GO:0005654), centrosome (GO:0005813)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
nuclear lumen	1
cellular anatomical structure	1
centriole	1
microtubule organizing center	1

Protein interactions and networks

STRING

1126 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD7	CFAP99	D6REC4	527
ANKRD7	TSACC	Q96A04	448
ANKRD7	CCDC24	Q8N4L8	431
ANKRD7	CCDC54	Q8NEL0	424
ANKRD7	C11orf71	Q6IPW1	397
ANKRD7	C22orf23	Q9BZE7	390
ANKRD7	ZFP14	Q9HCL3	382
ANKRD7	FSCB	Q5H9T9	378
ANKRD7	TRIM61	Q5EBN2	377
ANKRD7	SMIM14	Q96QK8	376
ANKRD7	CATSPERT	Q53TS8	375
ANKRD7	NUP210L	Q5VU65	371
ANKRD7	TMCO5A	Q8N6Q1	371
ANKRD7	LIMS3	P0CW19	370
ANKRD7	PPP4R4	Q6NUP7	370

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ANKRD7		psi-mi:“MI:0915”(physical association)	0.370
ANKRD7	HSPB1	psi-mi:“MI:0915”(physical association)	0.370
MARK3	ANKRD7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): ANKRD7 (Two-hybrid), ANKRD7 (Cross-Linking-MS (XL-MS))

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	34
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
563410	GRCh37/hg19 7q31.2-31.31(chr7:115520087-118098306)x1	Likely pathogenic

SpliceAI

1084 predictions. Top by Δscore:

Variant	Effect	Δscore
7:118234421:A:AG	acceptor_gain	1.0000
7:118234421:ATT:A	acceptor_gain	1.0000
7:118234422:T:G	acceptor_gain	1.0000
7:118234423:T:TA	acceptor_gain	1.0000
7:118234427:A:AG	acceptor_gain	1.0000
7:118234428:T:G	acceptor_gain	1.0000
7:118234428:TA:T	acceptor_loss	1.0000
7:118234429:A:AG	acceptor_gain	1.0000
7:118234430:G:A	acceptor_loss	1.0000
7:118234430:G:GA	acceptor_gain	1.0000
7:118234430:GA:G	acceptor_gain	1.0000
7:118234430:GAA:G	acceptor_gain	1.0000
7:118234430:GAAC:G	acceptor_gain	1.0000
7:118234430:GAACA:G	acceptor_gain	1.0000
7:118234541:TTAAG:T	donor_loss	1.0000
7:118234542:TAAG:T	donor_loss	1.0000
7:118234543:AAGGT:A	donor_loss	1.0000
7:118234544:AGG:A	donor_loss	1.0000
7:118234546:G:GA	donor_loss	1.0000
7:118234547:T:G	donor_loss	1.0000
7:118236135:A:G	donor_gain	1.0000
7:118239908:GATA:G	acceptor_gain	1.0000
7:118234423:T:A	acceptor_loss	0.9900
7:118234700:GGCA:G	acceptor_gain	0.9900
7:118234870:ATAAG:A	donor_loss	0.9900
7:118234871:TAAG:T	donor_loss	0.9900
7:118234872:AAG:A	donor_loss	0.9900
7:118234873:AG:A	donor_loss	0.9900
7:118234874:GG:G	donor_loss	0.9900
7:118234875:G:C	donor_loss	0.9900

AlphaMissense

1680 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:118234701:G:C	A99P	0.992
7:118234452:T:G	C67W	0.989
7:118234516:G:C	D89H	0.989
7:118234517:A:C	D89A	0.987
7:118234450:T:C	C67R	0.986
7:118234741:T:C	L112P	0.986
7:118234517:A:T	D89V	0.984
7:118236065:G:C	A165P	0.984
7:118234871:T:A	N155K	0.982
7:118234871:T:G	N155K	0.982
7:118234484:T:C	L78P	0.981
7:118234800:G:C	A132P	0.981
7:118234770:G:C	D122H	0.980
7:118234771:A:T	D122V	0.980
7:118234451:G:A	C67Y	0.978
7:118234518:T:A	D89E	0.977
7:118234518:T:G	D89E	0.977
7:118234837:T:C	L144P	0.977
7:118236102:T:C	L177P	0.977
7:118224928:C:A	A33D	0.976
7:118234445:T:C	L65P	0.975
7:118234447:G:C	A66P	0.973
7:118234771:A:C	D122A	0.972
7:118234538:T:C	L96S	0.971
7:118224952:T:C	L41P	0.970
7:118234738:T:C	L111P	0.970
7:118234870:A:T	N155I	0.970
7:118234738:T:A	L111H	0.969
7:118234448:C:A	A66D	0.968
7:118234516:G:T	D89Y	0.968

dbSNP variants (sampled 300 via entrez): RS1000486239 (7:118239639 C>G,T), RS1000509277 (7:118233216 T>C), RS1000541889 (7:118233700 A>G), RS1000555736 (7:118240311 C>A,G,T), RS1000717410 (7:118233103 G>T), RS1001205679 (7:118226897 A>G), RS1001662508 (7:118234147 G>A), RS1001776565 (7:118240528 A>T), RS1001902641 (7:118234380 T>C), RS1001976658 (7:118240347 A>G), RS1002005719 (7:118239040 G>A,C,T), RS1002129347 (7:118225357 G>A), RS1002154389 (7:118231985 G>A), RS1002279101 (7:118238574 A>G), RS1002509092 (7:118229204 T>A)

Disease associations

OMIM: gene MIM:610731 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST005024_61	Pursuit maintenance gain	9.000000e-06
GCST006979_146	Heel bone mineral density	1.000000e-14
GCST007831_1	Anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis	2.000000e-07
GCST007851_2	Anti-thyroid peroxidase (TPOAb) and anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis	2.000000e-06
GCST009439_21	Age-related cognitive decline (language) (slope of z-scores)	4.000000e-06
GCST012489_138	Heel bone mineral density x serum urate levels interaction	2.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0008433	pursuit maintenance gain measurement
EFO:0009270	heel bone mineral density
EFO:0007710	cognitive decline measurement
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	increases abundance, increases expression, decreases expression	3
Cadmium	decreases expression, increases abundance, increases expression	2
terbufos	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Fonofos	increases methylation	1
Endosulfan	increases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Parathion	increases methylation	1
Silicon Dioxide	increases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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