ANKRD13C

Summary

ANKRD13C (ankyrin repeat domain 13C, HGNC:25374) is a protein-coding gene on chromosome 1p31.1, encoding Ankyrin repeat domain-containing protein 13C (Q8N6S4). Acts as a molecular chaperone for G protein-coupled receptors, regulating their biogenesis and exit from the ER.

Enables signaling receptor binding activity. Involved in protein retention in ER lumen; regulation of anoikis; and regulation of signaling receptor activity. Located in endoplasmic reticulum and perinuclear region of cytoplasm.

Source: NCBI Gene 81573 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 71 total — 2 pathogenic
• MANE Select transcript: NM_030816

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25374
Approved symbol	ANKRD13C
Name	ankyrin repeat domain 13C
Location	1p31.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP566D1346, dJ677H15.3
Ensembl gene	ENSG00000118454
Ensembl biotype	protein_coding
OMIM	615125
Entrez	81573

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 17 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000262346, ENST00000370944, ENST00000464236, ENST00000490846, ENST00000498735, ENST00000888125, ENST00000888126, ENST00000888127, ENST00000888128, ENST00000888130, ENST00000888131, ENST00000888134, ENST00000888140, ENST00000888143, ENST00000927582, ENST00000927583, ENST00000927584, ENST00000927585, ENST00000970447, ENST00000970448

RefSeq mRNA: 1 — MANE Select: NM_030816 NM_030816

CCDS: CCDS648

Canonical transcript exons

ENST00000370944 — 13 exons

Exon	Start	End
ENSE00000798468	70276765	70276844
ENSE00000798469	70292388	70292549
ENSE00000995737	70258999	70262847
ENSE00000995739	70336058	70336099
ENSE00001931107	70353979	70354722
ENSE00003467607	70324853	70324957
ENSE00003507082	70313745	70313790
ENSE00003510539	70270856	70270956
ENSE00003540444	70296130	70296261
ENSE00003590621	70300764	70300908
ENSE00003592663	70315481	70315566
ENSE00003632660	70306224	70306290
ENSE00003679816	70274720	70274818

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 96.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.1175 / max 169.5902, expressed in 1812 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12807	21.6685	1812
12806	0.2808	127
12808	0.1683	73

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	96.54	gold quality
colonic epithelium	UBERON:0000397	89.93	gold quality
epithelial cell of pancreas	CL:0000083	89.08	gold quality
tibia	UBERON:0000979	88.90	gold quality
adrenal tissue	UBERON:0018303	88.47	gold quality
endothelial cell	CL:0000115	88.23	gold quality
cortical plate	UBERON:0005343	88.19	gold quality
tendon	UBERON:0000043	87.85	gold quality
corpus callosum	UBERON:0002336	87.20	gold quality
islet of Langerhans	UBERON:0000006	86.81	gold quality
oviduct epithelium	UBERON:0004804	86.58	gold quality
palpebral conjunctiva	UBERON:0001812	86.54	gold quality
parietal pleura	UBERON:0002400	86.27	gold quality
amniotic fluid	UBERON:0000173	86.25	gold quality
eye	UBERON:0000970	85.59	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.32	gold quality
visceral pleura	UBERON:0002401	85.20	gold quality
prefrontal cortex	UBERON:0000451	84.94	gold quality
cerebellar hemisphere	UBERON:0002245	84.78	gold quality
cerebellar cortex	UBERON:0002129	84.75	gold quality
germinal epithelium of ovary	UBERON:0001304	84.61	gold quality
ventricular zone	UBERON:0003053	84.57	gold quality
endometrium	UBERON:0001295	84.56	gold quality
buccal mucosa cell	CL:0002336	84.55	gold quality
mucosa of paranasal sinus	UBERON:0005030	84.51	gold quality
sural nerve	UBERON:0015488	84.46	gold quality
cerebellum	UBERON:0002037	84.35	gold quality
upper arm skin	UBERON:0004263	84.35	gold quality
muscle of leg	UBERON:0001383	84.15	gold quality
gastrocnemius	UBERON:0001388	84.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

264 targeting ANKRD13C, 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-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-25-3P	99.98	74.60	1817

Literature-anchored findings (GeneRIF, showing 1)

• ANKRD13C acts as a molecular chaperone for G protein-coupled receptors, regulating their biogenesis and exit from the ER. (PMID:20959461)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankrd13c	ENSDARG00000103831
mus_musculus	Ankrd13c	ENSMUSG00000039988
rattus_norvegicus	Ankrd13c	ENSRNOG00000011340
rattus_norvegicus	LOC102553980	ENSRNOG00000061420
drosophila_melanogaster	CG5742	FBGN0034304
caenorhabditis_elegans		WBGENE00015301

Paralogs (3): ANKRD13A (ENSG00000076513), ANKRD13D (ENSG00000172932), ANKRD13B (ENSG00000198720)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 13C — Q8N6S4 (reviewed: Q8N6S4)

All UniProt accessions (1): Q8N6S4

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a molecular chaperone for G protein-coupled receptors, regulating their biogenesis and exit from the ER.

Subcellular location. Endoplasmic reticulum membrane.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N6S4-1	1	yes
Q8N6S4-2	2
Q8N6S4-3	3

RefSeq proteins (1): NP_110443* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR021832	ANKRD13	Family
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR055285	ANKRD13_C	Domain

Pfam: PF11904, PF12796

UniProt features (12 total): repeat 3, splice variant 3, chain 1, sequence variant 1, sequence conflict 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N6S4-F1	75.71	0.44

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 411

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 192 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_PROSTAGLANDIN_STIMULUS, GOBP_PROTEIN_TARGETING, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_RESPONSE_TO_PROSTAGLANDIN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_RESPONSE_TO_KETONE, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, GOBP_RESPONSE_TO_HORMONE

GO Biological Process (3): protein targeting to membrane (GO:0006612), cellular response to prostaglandin D stimulus (GO:0071799), regulation of anoikis (GO:2000209)

GO Molecular Function (3): signaling receptor binding (GO:0005102), protein carrier activity (GO:0140597), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), perinuclear region of cytoplasm (GO:0048471), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
protein targeting	1
establishment of protein localization to membrane	1
cellular response to prostaglandin stimulus	1
response to prostaglandin D	1
cellular response to alcohol	1
cellular response to ketone	1
regulation of apoptotic process	1
anoikis	1
protein binding	1
molecular carrier activity	1
binding	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1

Protein interactions and networks

STRING

850 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD13C	M0QYU9	M0QYU9	512
ANKRD13C	SMIM7	Q9BQ49	499
ANKRD13C	RTP4	Q96DX8	443
ANKRD13C	C2orf69	Q8N8R5	429
ANKRD13C	G3V325	G3V325	419
ANKRD13C	KIAA1328	Q86T90	411
ANKRD13C	C5orf24	Q7Z6I8	400
ANKRD13C	FASTKD3	Q14CZ7	391
ANKRD13C	TYW3	Q6IPR3	382
ANKRD13C	VSTM4	Q8IW00	379
ANKRD13C	MGAT4C	Q9UBM8	373
ANKRD13C	ARL5A	Q9Y689	369
ANKRD13C	ZCCHC10	Q8TBK6	367
ANKRD13C	MYDGF	Q969H8	348
ANKRD13C	ATAD3C	Q5T2N8	348

IntAct

27 interactions, top by confidence:

A	B	Type	Score
ANKRD13C	CLDND2	psi-mi:“MI:0915”(physical association)	0.560
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
DLK1	TCAF2	psi-mi:“MI:0914”(association)	0.530
KCNS3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
CPLX2	DEGS1	psi-mi:“MI:0914”(association)	0.530
SLC22A15	ZFPL1	psi-mi:“MI:0914”(association)	0.530
DLK1	SCAMP3	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
CAV3	SHTN1	psi-mi:“MI:0914”(association)	0.350
SLC18A1	LIMK2	psi-mi:“MI:0914”(association)	0.350
NTRK3	ILVBL	psi-mi:“MI:0914”(association)	0.350
GRIN1	GPR89A	psi-mi:“MI:0914”(association)	0.350
SLC18A1	UBXN8	psi-mi:“MI:0914”(association)	0.350
MARCHF4	C2CD2L	psi-mi:“MI:0914”(association)	0.350
FUNDC2	ALDH1A1	psi-mi:“MI:0914”(association)	0.350
GPR27	TMEM259	psi-mi:“MI:0914”(association)	0.350
DLK1	PLPP3	psi-mi:“MI:0914”(association)	0.350
SLC7A7	KLRG2	psi-mi:“MI:0914”(association)	0.350
KRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
CLDND2	ANKRD13C	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (32): ANKRD13C (Affinity Capture-MS), ANKRD13C (Affinity Capture-MS), ANKRD13C (Affinity Capture-MS), ANKRD13C (Affinity Capture-MS), ANKRD13C (Affinity Capture-MS), ANKRD13C (Affinity Capture-MS), ANKRD13C (Affinity Capture-MS), ANKRD13C (Affinity Capture-MS), ANKRD13C (Affinity Capture-RNA), ANKRD13C (Proximity Label-MS), CLDND2 (Two-hybrid), ANKRD13C (Proximity Label-MS), ANKRD13C (Affinity Capture-MS), ANKRD13C (Affinity Capture-MS), ANKRD13C (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IES7, A0JN62, A0JNW5, A2AAE1, A2AGL3, A2RSJ4, A2RT67, A2RUS2, A2RV80, B0LPN4, B1H2P5, E7F240, E9Q401, O00507, O94967, P30957, P48553, P51593, Q14161, Q2LD37, Q3TLI0, Q3UHE1, Q3UVG3, Q3UX43, Q5F361, Q5M7Q1, Q5RAQ5, Q5ZJK1, Q658Y4, Q68CL5, Q6BDS2, Q6P6Y1, Q6TEP1, Q6VNB8, Q7TMY8, Q7TSG1, Q7Z6Z7, Q8BHY8, Q8CB44, Q8CGF6

Diamond homologs: A0A0R4IQZ2, A2AS55, A4II29, B4E2M5, C7B178, G0LXV8, L7X8P2, L7XCU0, L7XDS4, P0C0T2, P0C550, P0DJE3, P19838, P23631, P39010, Q04749, Q04861, Q0JKV1, Q10728, Q18297, Q28C34, Q337A0, Q38998, Q3SX00, Q3UMT1, Q3UX43, Q499M5, Q4JHE0, Q5H9F3, Q5R8C8, Q5U5A6, Q63369, Q68DC2, Q6FJ70, Q6GQX6, Q6NRD0, Q6NY19, Q6P6B7, Q6P9J5, Q6ZVH7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	47
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	Pathogenic
59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	Pathogenic

SpliceAI

2987 predictions. Top by Δscore:

Variant	Effect	Δscore
1:70274718:A:AC	donor_gain	1.0000
1:70274719:C:CC	donor_gain	1.0000
1:70274719:CAA:C	donor_gain	1.0000
1:70274719:CAACT:C	donor_gain	1.0000
1:70276758:AACTT:A	donor_loss	1.0000
1:70276759:ACTTA:A	donor_loss	1.0000
1:70276760:CTTAC:C	donor_loss	1.0000
1:70276761:TTAC:T	donor_loss	1.0000
1:70276762:TACT:T	donor_loss	1.0000
1:70276763:A:AC	donor_gain	1.0000
1:70276763:ACTTT:A	donor_gain	1.0000
1:70276764:C:CA	donor_gain	1.0000
1:70276764:CT:C	donor_gain	1.0000
1:70276764:CTT:C	donor_gain	1.0000
1:70276764:CTTT:C	donor_gain	1.0000
1:70276764:CTTTC:C	donor_gain	1.0000
1:70276767:T:A	donor_gain	1.0000
1:70276840:ATCGG:A	acceptor_gain	1.0000
1:70276841:TCGG:T	acceptor_gain	1.0000
1:70276842:CGG:C	acceptor_gain	1.0000
1:70276842:CGGC:C	acceptor_gain	1.0000
1:70276843:GG:G	acceptor_gain	1.0000
1:70276845:C:CC	acceptor_gain	1.0000
1:70276849:C:CT	acceptor_gain	1.0000
1:70276849:C:T	acceptor_gain	1.0000
1:70276850:A:T	acceptor_gain	1.0000
1:70292382:TTATA:T	donor_loss	1.0000
1:70292383:TATAC:T	donor_loss	1.0000
1:70292387:C:CA	donor_loss	1.0000
1:70292545:CTTTC:C	acceptor_gain	1.0000

AlphaMissense

3571 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:70262820:G:T	A508D	1.000
1:70262821:C:G	A508P	1.000
1:70270867:G:T	P495H	1.000
1:70270869:A:C	F494L	1.000
1:70270869:A:T	F494L	1.000
1:70270871:A:G	F494L	1.000
1:70274753:G:T	A454D	1.000
1:70274800:T:A	R438S	1.000
1:70274800:T:G	R438S	1.000
1:70274801:C:G	R438T	1.000
1:70276786:T:C	Y425C	1.000
1:70276787:A:C	Y425D	1.000
1:70276787:A:G	Y425H	1.000
1:70276796:A:G	W422R	1.000
1:70276796:A:T	W422R	1.000
1:70292470:A:G	L378P	1.000
1:70292470:A:T	L378H	1.000
1:70292472:A:C	H377Q	1.000
1:70292472:A:T	H377Q	1.000
1:70292473:T:C	H377R	1.000
1:70292474:G:C	H377D	1.000
1:70292477:C:T	E376K	1.000
1:70292478:T:A	R375S	1.000
1:70292478:T:G	R375S	1.000
1:70292481:T:A	R374S	1.000
1:70292481:T:G	R374S	1.000
1:70292482:C:A	R374I	1.000
1:70292482:C:G	R374T	1.000
1:70292483:T:C	R374G	1.000
1:70292484:T:A	K373N	1.000

dbSNP variants (sampled 300 via entrez): RS1000006114 (1:70321041 G>T), RS1000017914 (1:70268178 C>T), RS1000046756 (1:70287894 C>T), RS1000060852 (1:70280998 A>G), RS1000068370 (1:70350730 ATACT>A), RS1000069102 (1:70327474 G>A), RS1000145240 (1:70261951 T>C), RS1000150539 (1:70299879 C>G), RS1000156276 (1:70294274 T>C,G), RS1000157624 (1:70316251 T>C,G), RS1000196178 (1:70305086 T>C), RS1000208440 (1:70353957 G>A,C,T), RS1000226569 (1:70354228 G>A,C), RS1000230704 (1:70315716 C>A), RS1000238578 (1:70334695 C>T)

Disease associations

OMIM: gene MIM:615125 | 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

38 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	4
Nickel	increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
deoxynivalenol	increases expression	1
salinomycin	decreases expression	1
trichostatin A	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases abundance, increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Leflunomide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Hydrogen Peroxide	affects cotreatment, increases expression	1
Indomethacin	decreases expression	1
Lead	affects expression	1
Methyl Methanesulfonate	decreases expression	1
Methylcholanthrene	affects binding, increases reaction	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Dihydrotestosterone	increases expression	1
Theophylline	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

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