KIAA1210

Summary

KIAA1210 (HGNC:29218) is a protein-coding gene on chromosome Xq24, encoding Acrosomal protein KIAA1210 (Q9ULL0).

Predicted to be located in acrosomal vesicle and basal ectoplasmic specialization.

Source: NCBI Gene 57481 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 231 total
• MANE Select transcript: NM_001394962

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29218
Approved symbol	KIAA1210
Name	KIAA1210
Location	Xq24
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000250423
Ensembl biotype	protein_coding
OMIM	300995
Entrez	57481

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000402510, ENST00000691062

RefSeq mRNA: 2 — MANE Select: NM_001394962 NM_001394962, NM_020721

CCDS: CCDS48156, CCDS94659

Canonical transcript exons

ENST00000691062 — 12 exons

Exon	Start	End
ENSE00001552490	119093667	119093775
ENSE00001553057	119086546	119089746
ENSE00001564292	119116496	119116664
ENSE00002545699	119109076	119109202
ENSE00002548329	119078635	119081504
ENSE00002555902	119104992	119105147
ENSE00002560765	119085383	119085546
ENSE00002563933	119083015	119083120
ENSE00002563973	119108337	119108471
ENSE00002570651	119096494	119096691
ENSE00003930509	119123582	119123652
ENSE00003933137	119127727	119127812

Expression profiles

Bgee: expression breadth broad, 47 present calls, max score 98.28.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cauda epididymis	UBERON:0004360	98.28	gold quality
corpus epididymis	UBERON:0004359	97.82	gold quality
caput epididymis	UBERON:0004358	97.73	gold quality
adult organism	UBERON:0007023	93.48	gold quality
seminal vesicle	UBERON:0000998	87.65	gold quality
right testis	UBERON:0004534	87.16	gold quality
testis	UBERON:0000473	84.96	gold quality
left testis	UBERON:0004533	84.96	gold quality
secondary oocyte	CL:0000655	76.18	gold quality
endometrium	UBERON:0001295	73.94	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	71.46	gold quality
prostate gland	UBERON:0002367	63.21	gold quality
tibialis anterior	UBERON:0001385	61.34	silver quality
ileal mucosa	UBERON:0000331	60.53	silver quality
right adrenal gland cortex	UBERON:0035827	59.49	gold quality
right adrenal gland	UBERON:0001233	59.25	gold quality
left adrenal gland	UBERON:0001234	56.96	gold quality
uterus	UBERON:0000995	56.48	gold quality
adrenal gland	UBERON:0002369	56.47	gold quality
pancreatic ductal cell	CL:0002079	56.38	silver quality
right uterine tube	UBERON:0001302	56.22	gold quality
adrenal cortex	UBERON:0001235	56.21	gold quality
fallopian tube	UBERON:0003889	55.67	gold quality
left adrenal gland cortex	UBERON:0035825	55.59	gold quality
superficial temporal artery	UBERON:0001614	54.42	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
epithelial cell of pancreas	CL:0000083	54.21	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
deltoid	UBERON:0001476	53.84	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

120 targeting KIAA1210, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-548J-3P	99.94	72.61	4881

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	cracdlb	ENSDARG00000079501
danio_rerio	cracdla	ENSDARG00000097160
mus_musculus	Gm14569	ENSMUSG00000091556
rattus_norvegicus	Kiaa1210	ENSRNOG00000027837
drosophila_melanogaster	Cow	FBGN0039054
caenorhabditis_elegans		WBGENE00016918

Paralogs (3): SPOCK2 (ENSG00000107742), SPOCK1 (ENSG00000152377), SPOCK3 (ENSG00000196104)

Protein

Protein identifiers

Acrosomal protein KIAA1210 — Q9ULL0 (reviewed: Q9ULL0)

All UniProt accessions (2): Q9ULL0, A0A8I5KWH9

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with TOP2B.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Acrosome.

RefSeq proteins (2): NP_001381891, NP_065772 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026713	CRACD-like	Family
IPR028030	DUF4592	Domain

Pfam: PF15262

UniProt features (32 total): compositionally biased region 14, sequence variant 9, region of interest 8, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULL0-F1	36.22	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 47 (showing top): GOCC_SECRETORY_GRANULE, GOCC_CELL_CELL_JUNCTION, MODULE_207, GOCC_SECRETORY_VESICLE, GOCC_ANCHORING_JUNCTION, GOCC_ACROSOMAL_VESICLE, chrXq24, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, BRUINS_UVC_RESPONSE_LATE, IGLV5_37_TARGET_GENES, MIR616_5P, MIR371B_5P, MIR373_5P, MIR548AJ_3P_MIR548X_3P, MIR548AE_3P_MIR548AQ_3P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (3): acrosomal vesicle (GO:0001669), cytoplasmic vesicle (GO:0031410), basal ectoplasmic specialization (GO:0061832)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
secretory granule	1
cytoplasm	1
intracellular vesicle	1
cell-cell junction	1

Protein interactions and networks

STRING

412 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIAA1210	CYB5D2	Q8WUJ1	554
KIAA1210	TXLNG	Q9NUQ3	493
KIAA1210	MYO1H	Q8N1T3	485
KIAA1210	NENF	Q9UMX5	477
KIAA1210	EFCAB3	Q8N7B9	445
KIAA1210	PACC1	Q9H813	423
KIAA1210	MAGEB3	O15480	418
KIAA1210	CST9L	Q9H4G1	417
KIAA1210	SMC2	O95347	406
KIAA1210	RBM44	Q6ZP01	402
KIAA1210	AKAP14	Q86UN6	400
KIAA1210	FAAH2	Q6GMR7	394
KIAA1210	LARP1B	Q659C4	393
KIAA1210	ZMYM3	Q14202	392
KIAA1210	HIVEP2	P31629	378

IntAct

3 interactions, top by confidence:

A	B	Type	Score
ITCH	KIAA1210	psi-mi:“MI:0407”(direct interaction)	0.440
TEX101	PSMD12	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): KIAA1210 (Affinity Capture-MS), KIAA1210 (Protein-peptide)

ESM2 similar proteins: A0A1B0GTH6, A0A1B0GUW6, A0A1D5RMD1, A2AQH4, A4FU49, A6NJ88, C4P6S0, D3YU32, E9PAV3, F1QU13, I3L273, J3KML8, P70670, Q32L62, Q3V0E1, Q3V3Q4, Q4R729, Q5H9F3, Q5QJ38, Q5SWP3, Q5U4C1, Q5VWK0, Q5VYM1, Q68DN1, Q6AZ54, Q7TSG5, Q810T2, Q8CH19, Q8K4E0, Q8N3K9, Q8N5Q1, Q8NDH2, Q8TCU4, Q8WNU4, Q8WWL7, Q920R4, Q921B4, Q923B3, Q96JA4, Q96M34

Diamond homologs: E9Q0C6, Q9ULL0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	164
Likely benign	27
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

2084 predictions. Top by Δscore:

Variant	Effect	Δscore
X:119083009:TTTTA:T	donor_loss	1.0000
X:119083010:TTTAC:T	donor_loss	1.0000
X:119083011:TTAC:T	donor_loss	1.0000
X:119083012:TA:T	donor_loss	1.0000
X:119083013:A:AG	donor_loss	1.0000
X:119083014:C:A	donor_loss	1.0000
X:119083119:CC:C	acceptor_gain	1.0000
X:119083119:CCC:C	acceptor_loss	1.0000
X:119083120:CC:C	acceptor_gain	1.0000
X:119083121:C:CC	acceptor_gain	1.0000
X:119083121:C:T	acceptor_gain	1.0000
X:119083122:T:A	acceptor_loss	1.0000
X:119083123:T:C	acceptor_gain	1.0000
X:119083126:A:AC	acceptor_gain	1.0000
X:119083129:C:CT	acceptor_gain	1.0000
X:119083130:A:T	acceptor_gain	1.0000
X:119085379:CTA:C	donor_loss	1.0000
X:119085381:A:AC	donor_gain	1.0000
X:119085382:C:CC	donor_gain	1.0000
X:119085392:AGGCT:A	donor_gain	1.0000
X:119085542:CTTTC:C	acceptor_gain	1.0000
X:119085543:TTTC:T	acceptor_gain	1.0000
X:119085544:TTC:T	acceptor_gain	1.0000
X:119085545:TC:T	acceptor_gain	1.0000
X:119085546:CC:C	acceptor_gain	1.0000
X:119085547:C:CC	acceptor_gain	1.0000
X:119085548:T:C	acceptor_loss	1.0000
X:119093663:TAA:T	donor_loss	1.0000
X:119093664:AAC:A	donor_loss	1.0000
X:119093665:ACC:A	donor_loss	1.0000

AlphaMissense

10079 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:119081367:C:G	A1698P	0.981
X:119081391:A:G	W1690R	0.979
X:119081391:A:T	W1690R	0.979
X:119087615:A:C	F1205L	0.976
X:119087615:A:T	F1205L	0.976
X:119087617:A:G	F1205L	0.976
X:119087642:G:C	F1196L	0.973
X:119087642:G:T	F1196L	0.973
X:119087644:A:G	F1196L	0.973
X:119087633:A:C	F1199L	0.972
X:119087633:A:T	F1199L	0.972
X:119087635:A:G	F1199L	0.972
X:119085499:A:G	W1578R	0.966
X:119085499:A:T	W1578R	0.966
X:119081358:A:G	W1701R	0.965
X:119081358:A:T	W1701R	0.965
X:119081386:G:C	F1691L	0.958
X:119081386:G:T	F1691L	0.958
X:119081388:A:G	F1691L	0.958
X:119087629:C:G	A1201P	0.958
X:119086802:A:C	F1476L	0.956
X:119086802:A:T	F1476L	0.956
X:119086804:A:G	F1476L	0.956
X:119081356:C:A	W1701C	0.955
X:119081356:C:G	W1701C	0.955
X:119096593:G:C	F389L	0.952
X:119096593:G:T	F389L	0.952
X:119096595:A:G	F389L	0.952
X:119109154:G:C	F233L	0.952
X:119109154:G:T	F233L	0.952

dbSNP variants (sampled 300 via entrez): RS1000003128 (X:119112262 A>G), RS1000008242 (X:119112061 G>A), RS1000083605 (X:119122367 G>C), RS1000165034 (X:119132590 G>C), RS1000178640 (X:119128933 C>A), RS1000213295 (X:119081140 G>A), RS1000252729 (X:119119704 C>T), RS1000294090 (X:119136046 CA>C), RS1000359288 (X:119137330 A>G), RS1000377805 (X:119136911 A>G), RS1000499704 (X:119104063 C>T), RS1000592209 (X:119114577 G>A,C,T), RS1000758995 (X:119130641 A>G), RS1000894633 (X:119138074 G>C), RS1000961699 (X:119137328 C>G)

Disease associations

OMIM: gene MIM:300995 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): autism spectrum disorder (MONDO:0005258)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation, increases mutagenesis	2
bisphenol A	affects cotreatment, decreases methylation	1
Fulvestrant	affects cotreatment, decreases methylation	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder