ANKRD35

Summary

ANKRD35 (ankyrin repeat domain 35, HGNC:26323) is a protein-coding gene on chromosome 1q21.1, encoding Ankyrin repeat domain-containing protein 35 (Q8N283).

Predicted to enable actin binding activity.

Source: NCBI Gene 148741 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 172 total — 1 pathogenic
• MANE Select transcript: NM_144698

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26323
Approved symbol	ANKRD35
Name	ankyrin repeat domain 35
Location	1q21.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25124
Ensembl gene	ENSG00000198483
Ensembl biotype	protein_coding
Entrez	148741

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000355594, ENST00000544626, ENST00000948349

RefSeq mRNA: 2 — MANE Select: NM_144698 NM_001280799, NM_144698

CCDS: CCDS72867, CCDS72868

Canonical transcript exons

ENST00000355594 — 14 exons

Exon	Start	End
ENSE00001068765	145876816	145876873
ENSE00001068775	145878391	145878479
ENSE00001068782	145879258	145879388
ENSE00001068788	145877968	145878032
ENSE00001602316	145868311	145868400
ENSE00001624459	145867287	145867392
ENSE00001691739	145871982	145873985
ENSE00001768088	145867991	145868056
ENSE00001879122	145885720	145885866
ENSE00003727369	145874155	145874192
ENSE00003738772	145874822	145875006
ENSE00003738836	145876140	145876246
ENSE00003751790	145876569	145876639
ENSE00003844147	145866564	145866765

Expression profiles

Bgee: expression breadth ubiquitous, 242 present calls, max score 97.78.

FANTOM5 (CAGE): breadth broad, TPM avg 1.6177 / max 29.1327, expressed in 604 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14148	1.3838	553
14150	0.2339	102

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	97.78	gold quality
lower esophagus mucosa	UBERON:0035834	93.96	gold quality
skin of leg	UBERON:0001511	92.72	gold quality
skin of abdomen	UBERON:0001416	91.95	gold quality
zone of skin	UBERON:0000014	91.91	gold quality
parotid gland	UBERON:0001831	91.87	gold quality
tendon of biceps brachii	UBERON:0008188	91.77	gold quality
nasal cavity epithelium	UBERON:0005384	91.00	gold quality
pharyngeal mucosa	UBERON:0000355	90.96	gold quality
penis	UBERON:0000989	90.95	gold quality
gingival epithelium	UBERON:0001949	90.39	gold quality
gingiva	UBERON:0001828	90.18	gold quality
nipple	UBERON:0002030	88.89	gold quality
skin of hip	UBERON:0001554	88.84	gold quality
esophagus squamous epithelium	UBERON:0006920	88.48	gold quality
mammalian vulva	UBERON:0000997	88.45	gold quality
body of tongue	UBERON:0011876	87.99	gold quality
upper leg skin	UBERON:0004262	87.73	gold quality
trachea	UBERON:0003126	87.31	gold quality
layer of synovial tissue	UBERON:0007616	86.76	gold quality
amniotic fluid	UBERON:0000173	86.23	gold quality
quadriceps femoris	UBERON:0001377	86.16	gold quality
vastus lateralis	UBERON:0001379	86.16	gold quality
esophagus mucosa	UBERON:0002469	85.84	gold quality
tendon	UBERON:0000043	85.68	gold quality
vena cava	UBERON:0004087	85.64	silver quality
palpebral conjunctiva	UBERON:0001812	85.46	gold quality
tongue	UBERON:0001723	85.38	gold quality
medial globus pallidus	UBERON:0002477	85.04	gold quality
oral cavity	UBERON:0000167	84.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting ANKRD35, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-6843-3P	99.26	66.42	915
HSA-MIR-513B-3P	98.76	68.12	1577
HSA-MIR-7843-3P	98.31	67.94	803
HSA-MIR-6870-3P	98.08	65.10	692
HSA-MIR-6747-3P	97.73	64.84	1596
HSA-MIR-3663-5P	97.01	64.84	713

Literature-anchored findings (GeneRIF, showing 1)

• Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits. (PMID:33203765)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ankrd35	ENSMUSG00000038354
rattus_norvegicus	Ankrd35	ENSRNOG00000025108
caenorhabditis_elegans		WBGENE00019257
caenorhabditis_elegans		WBGENE00044071

Paralogs (2): ZDHHC13 (ENSG00000177054), ZDHHC17 (ENSG00000186908)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 35 — Q8N283 (reviewed: Q8N283)

All UniProt accessions (2): Q8N283, F6XZD3

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N283-1	1	yes
Q8N283-2	2

RefSeq proteins (2): NP_001267728, NP_653299* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR042420	RAI14/UACA	Family

Pfam: PF12796

UniProt features (30 total): repeat 6, compositionally biased region 6, sequence variant 5, region of interest 4, coiled-coil region 4, splice variant 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N283-F1	66.43	0.18

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 44 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOZGIT_ESR1_TARGETS_DN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, WTGAAAT_UNKNOWN, TGIF_01, GOMF_ACTIN_BINDING, TGGAAA_NFAT_Q4_01, chr1q21, LEIN_PONS_MARKERS, LEIN_MEDULLA_MARKERS, GOMF_CYTOSKELETAL_PROTEIN_BINDING, SMAD_Q6, DODD_NASOPHARYNGEAL_CARCINOMA_DN, LIU_PROSTATE_CANCER_DN, MEISSNER_NPC_HCP_WITH_H3K4ME2

GO Biological Process (0):

GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeletal protein binding	1
binding	1

Protein interactions and networks

STRING

1038 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD35	POLR3GL	Q9BT43	572
ANKRD35	LIX1L	Q8IVB5	526
ANKRD35	THSD1	Q9NS62	515
ANKRD35	ZFP92	A6NM28	507
ANKRD35	PHLDB1	Q86UU1	499
ANKRD35	DCTN2	Q13561	479
ANKRD35	PTCRA	Q6ISU1	466
ANKRD35	DNAH9	Q9NYC9	454
ANKRD35	MYL11	Q96A32	451
ANKRD35	NUDT17	P0C025	435
ANKRD35	NBPF11	Q86T75	432
ANKRD35	FCRL3	Q96P31	425
ANKRD35	SPIB	Q01892	420
ANKRD35	ATP7B	P35670	408
ANKRD35	MORN2	Q502X0	404

IntAct

12 interactions, top by confidence:

A	B	Type	Score
ANKRD35	CACNA1C	psi-mi:“MI:0915”(physical association)	0.370
ANKRD35	SHANK3	psi-mi:“MI:0915”(physical association)	0.370
ANKRD35	TSC1	psi-mi:“MI:0915”(physical association)	0.370
ANKRD35	TSC2	psi-mi:“MI:0915”(physical association)	0.370
VIM	ANKRD35	psi-mi:“MI:0915”(physical association)	0.370
	ANKRD35	psi-mi:“MI:0915”(physical association)	0.000
ANKRD35		psi-mi:“MI:0915”(physical association)	0.000
ANKRD35	pheS	psi-mi:“MI:0915”(physical association)	0.000
ANKRD35	addA	psi-mi:“MI:0915”(physical association)	0.000
argG	ANKRD35	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (35): ANKRD35 (Biochemical Activity), ANKRD35 (Affinity Capture-MS), ANKRD35 (Affinity Capture-MS), ANKRD35 (Affinity Capture-MS), ANKRD35 (Affinity Capture-MS), ANKRD35 (Two-hybrid), ANKRD35 (Two-hybrid), ANKRD35 (Two-hybrid), ANKRD35 (Two-hybrid), ANKRD35 (Affinity Capture-MS), ANKRD35 (Affinity Capture-MS), RBCK1 (Affinity Capture-Western), ANKRD35 (Affinity Capture-Western), MITD1 (Affinity Capture-MS), KRT7 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LIT1, A0A1B0GVG4, A0JNH6, A1A5D9, A6NC98, A6NGB0, A6NJZ7, A6NNM3, F6XLV1, O15049, O54887, P0C7N4, P58660, P60531, Q0D2H9, Q0P5D1, Q2KJ21, Q2TAC2, Q3LUD3, Q3T1I3, Q3TMW1, Q3V0F0, Q4QRL3, Q5JTB6, Q5RD60, Q66HR5, Q6NSJ2, Q6PHN1, Q6QZQ4, Q80VM7, Q8BP01, Q8C7U1, Q8CB62, Q8CGU1, Q8CHW5, Q8K2I2, Q8N137, Q8N283, Q8N6Y0, Q8R370

Diamond homologs: Q5U312, Q80VM7, Q8CGB3, Q8N283, Q8TF21, Q9EP71, Q9P0K7, Q8HYY4, Q9BZF9, Q9GL21, Q09701, Q0VCS9, Q3TPE9, Q5EA33, Q5ZMD2, Q8IV38

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	154
Likely benign	14
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1071174	NC_000001.10:g.(?145507647)(145555822_?)del	Pathogenic

SpliceAI

1919 predictions. Top by Δscore:

Variant	Effect	Δscore
1:145867284:G:GG	donor_gain	1.0000
1:145867287:GTT:G	donor_gain	1.0000
1:145867302:G:T	donor_gain	1.0000
1:145867303:GGA:G	donor_gain	1.0000
1:145867402:T:A	acceptor_gain	1.0000
1:145867977:GG:G	donor_gain	1.0000
1:145867978:TG:T	donor_gain	1.0000
1:145868055:G:GG	acceptor_gain	1.0000
1:145868055:GG:G	acceptor_gain	1.0000
1:145868056:A:AG	acceptor_gain	1.0000
1:145868056:AG:A	acceptor_gain	1.0000
1:145868056:AGG:A	acceptor_loss	1.0000
1:145868057:CAG:C	acceptor_loss	1.0000
1:145868058:CCAG:C	acceptor_loss	1.0000
1:145868059:CCCA:C	acceptor_loss	1.0000
1:145868307:T:A	donor_loss	1.0000
1:145868309:GGTA:G	donor_loss	1.0000
1:145868310:AGGT:A	donor_loss	1.0000
1:145868399:G:GA	acceptor_gain	1.0000
1:145868399:GAT:G	acceptor_gain	1.0000
1:145868399:GATC:G	acceptor_gain	1.0000
1:145868400:A:AG	acceptor_gain	1.0000
1:145868403:CTCAG:C	acceptor_loss	1.0000
1:145868406:G:A	acceptor_gain	1.0000
1:145868407:T:A	acceptor_gain	1.0000
1:145871981:AGG:A	donor_loss	1.0000
1:145871988:G:GT	donor_gain	1.0000
1:145874844:GCCC:G	donor_gain	1.0000
1:145876137:G:GG	donor_gain	1.0000
1:145876142:GACAA:G	donor_gain	1.0000

AlphaMissense

6410 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:145876617:A:C	S135R	0.998
1:145876617:A:T	S135R	0.998
1:145876619:T:G	S135R	0.998
1:145876185:A:G	L172P	0.996
1:145876639:G:T	A128D	0.996
1:145876836:C:G	R121P	0.996
1:145878011:G:T	A94D	0.996
1:145878465:G:T	A62D	0.996
1:145876221:G:T	A160E	0.995
1:145876233:G:T	P156H	0.995
1:145877972:A:G	L107P	0.995
1:145877975:A:G	L106P	0.995
1:145877984:A:T	V103D	0.995
1:145876606:A:G	L139P	0.994
1:145876827:A:G	L124S	0.994
1:145876830:G:C	P123R	0.994
1:145876830:G:T	P123Q	0.994
1:145876832:A:C	S122R	0.994
1:145876832:A:T	S122R	0.994
1:145876834:T:G	S122R	0.994
1:145878012:C:G	A94P	0.994
1:145878468:G:T	A61E	0.994
1:145876233:G:C	P156R	0.993
1:145876606:A:T	L139Q	0.993
1:145876819:C:G	A127P	0.993
1:145878020:A:G	L91P	0.993
1:145878023:G:T	A90D	0.993
1:145878441:A:G	L70P	0.993
1:145878477:A:G	F58S	0.993
1:145876609:A:G	L138P	0.992

dbSNP variants (sampled 300 via entrez): RS1000409389 (1:145883856 A>G), RS1000747624 (1:145882704 C>T), RS1000798417 (1:145881959 T>C), RS1001306365 (1:145883243 C>G,T), RS1001359658 (1:145877336 G>A), RS1001646474 (1:145883098 T>G), RS1002063994 (1:145887624 A>G), RS1002216351 (1:145871113 C>G), RS1002913765 (1:145881158 G>A,T), RS1003002801 (1:145875943 A>G), RS1003152057 (1:145869552 T>A), RS1003659503 (1:145879950 C>T), RS1004220015 (1:145884222 C>A,T), RS1004412741 (1:145866371 T>C), RS1004549671 (1:145883077 T>A,C,G)

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

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	4
trichostatin A	affects expression, decreases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Progesterone	decreases expression, affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects response to substance, increases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Carbamazepine	affects expression	1
Dinitrochlorobenzene	affects binding	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Thimerosal	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	decreases methylation, decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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