KIAA0825

Summary

KIAA0825 (HGNC:28532) is a protein-coding gene on chromosome 5q15, encoding Uncharacterized protein KIAA0825 (Q8IV33).

At a glance

• Gene–disease (curated): polydactyly, postaxial, type a10 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 100 total — 4 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 5
• MANE Select transcript: NM_001145678

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28532
Approved symbol	KIAA0825
Name	KIAA0825
Location	5q15
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp686F0372, MGC34713
Ensembl gene	ENSG00000185261
Ensembl biotype	protein_coding
OMIM	617266
Entrez	285600

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000329378, ENST00000504117, ENST00000513200, ENST00000682413, ENST00000703867

RefSeq mRNA: 18 — MANE Select: NM_001145678 NM_001145678, NM_001385712, NM_001385713, NM_001385714, NM_001385715, NM_001385716, NM_001385717, NM_001385719, NM_001385720, NM_001385721, NM_001385722, NM_001385723, NM_001385724, NM_001385728, NM_001385729, NM_001385730, NM_001388325, NM_173665

CCDS: CCDS4070, CCDS93745, CCDS93746

Canonical transcript exons

ENST00000682413 — 21 exons

Exon	Start	End
ENSE00001302637	94582433	94582583
ENSE00001325072	94536996	94537127
ENSE00001554622	94391535	94391694
ENSE00001617935	94477111	94477205
ENSE00001638627	94396101	94396509
ENSE00001702460	94484769	94484930
ENSE00001706022	94403569	94403793
ENSE00002246160	94520248	94520917
ENSE00002315243	94523930	94524098
ENSE00003499020	94464869	94465059
ENSE00003521517	94439982	94440121
ENSE00003526629	94469961	94470111
ENSE00003532720	94452959	94453069
ENSE00003585767	94462387	94462569
ENSE00003647438	94471466	94471731
ENSE00003651504	94473292	94473519
ENSE00003919356	94618500	94618604
ENSE00003990131	94417201	94417365
ENSE00003990132	94386242	94386404
ENSE00003990133	94150851	94154124
ENSE00003990134	94384368	94384458

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 77.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.8687 / max 96.9394, expressed in 1337 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62625	3.8687	1337

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.12	gold quality
adrenal tissue	UBERON:0018303	76.86	gold quality
calcaneal tendon	UBERON:0003701	75.33	gold quality
cortical plate	UBERON:0005343	73.20	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.40	gold quality
ventricular zone	UBERON:0003053	70.63	gold quality
bone marrow cell	CL:0002092	70.12	gold quality
right uterine tube	UBERON:0001302	68.38	gold quality
ganglionic eminence	UBERON:0004023	68.28	gold quality
monocyte	CL:0000576	67.74	gold quality
leukocyte	CL:0000738	67.47	gold quality
stromal cell of endometrium	CL:0002255	66.93	gold quality
prefrontal cortex	UBERON:0000451	66.78	gold quality
smooth muscle tissue	UBERON:0001135	66.71	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	66.51	gold quality
islet of Langerhans	UBERON:0000006	66.42	gold quality
Brodmann (1909) area 9	UBERON:0013540	66.20	gold quality
cerebellar hemisphere	UBERON:0002245	66.10	gold quality
cerebellar cortex	UBERON:0002129	66.08	gold quality
corpus callosum	UBERON:0002336	65.96	gold quality
right hemisphere of cerebellum	UBERON:0014890	65.57	gold quality
nucleus accumbens	UBERON:0001882	65.21	gold quality
cerebellum	UBERON:0002037	64.76	gold quality
secondary oocyte	CL:0000655	64.58	gold quality
right frontal lobe	UBERON:0002810	64.55	gold quality
gall bladder	UBERON:0002110	63.96	gold quality
fallopian tube	UBERON:0003889	63.72	gold quality
anterior cingulate cortex	UBERON:0009835	63.70	gold quality
tendon	UBERON:0000043	63.40	gold quality
blood	UBERON:0000178	63.38	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.88
E-MTAB-6058	no	367.86

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

68 targeting KIAA0825, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-511-3P	99.99	68.85	1467
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-4775	99.98	75.00	6394
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-3121-3P	99.82	71.96	3630

Literature-anchored findings (GeneRIF, showing 5)

• Disruption of the orphan receptor ESRRG and disruption of KIAA0825 identified in a subject with hearing loss and mild developmental delay. (PMID:27381092)
• Data indicate a catalog of genes include important in limb patterning including KIAA0825 (C5orf36), suggesting a better diagnosis and understanding of the biology of polydactyly. (PMID:30982135)
• Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A. (PMID:32147526)
• Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A. (PMID:35886013)
• Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly. (PMID:37107627)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	2210408I21Rik	ENSMUSG00000071252
rattus_norvegicus	Kiaa0825	ENSRNOG00000045639

Protein

Protein identifiers

Uncharacterized protein KIAA0825 — Q8IV33 (reviewed: Q8IV33)

All UniProt accessions (3): A0A804HHT9, A0A994J718, Q8IV33

UniProt curated annotations — full annotation on UniProt →

Disease relevance. Polydactyly, postaxial, A10 (PAPA10) [MIM:618498] A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA10 is an autosomal recessive condition characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed. The disease may be caused by variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IV33-1	1	yes
Q8IV33-2	2
Q8IV33-3	3

RefSeq proteins (18): NP_001139150, NP_001372641, NP_001372642, NP_001372643, NP_001372644, NP_001372645, NP_001372646, NP_001372648, NP_001372649, NP_001372650, NP_001372651, NP_001372652, NP_001372653, NP_001372657, NP_001372658, NP_001372659, NP_001375254, NP_775936 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027993	DUF4495	Family

Pfam: PF14906

UniProt features (10 total): splice variant 5, sequence variant 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IV33-F1	74.33	0.13

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 100 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, E2F_Q4, E2F4DP1_01, E2F1DP1_01, E2F1DP2_01, WHN_B, PIT1_Q6, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR, chr5q15, TGGAAA_NFAT_Q4_01, MARSON_BOUND_BY_E2F4_UNSTIMULATED, SCGGAAGY_ELK1_02, E2F_02, STAT5A_02, SGCGSSAAA_E2F1DP2_01

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

441 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIAA0825	OR5C1	Q8NGR4	648
KIAA0825	IQCE	Q6IPM2	610
KIAA0825	C1orf167	Q5SNV9	597
KIAA0825	CIBAR1	A1XBS5	593
KIAA0825	ZNF141	Q15928	583
KIAA0825	WBP11	Q9Y2W2	506
KIAA0825	ARB2A	Q8WUF8	505
KIAA0825	PRRT4	C9JH25	474
KIAA0825	PROSER1	Q86XN7	447
KIAA0825	STKLD1	Q8NE28	429
KIAA0825	TMEFF2	Q9UIK5	428
KIAA0825	FAM81B	Q96LP2	397
KIAA0825	RGS8	P57771	396
KIAA0825	POU5F2	Q8N7G0	386
KIAA0825	ZCCHC14	Q8WYQ9	385

IntAct

18 interactions, top by confidence:

A	B	Type	Score
HGS	KIAA0825	psi-mi:“MI:0915”(physical association)	0.560
KLF11	KIAA0825	psi-mi:“MI:0915”(physical association)	0.560
DNAJB6	KIAA0825	psi-mi:“MI:0915”(physical association)	0.560
OPTN	KIAA0825	psi-mi:“MI:0915”(physical association)	0.560
ECE1	KIAA0825	psi-mi:“MI:0915”(physical association)	0.370
EMB	RLBP1	psi-mi:“MI:0914”(association)	0.350
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
HGS	KIAA0825	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): KIAA0825 (Affinity Capture-RNA), HGS (Two-hybrid), KIAA0825 (Two-hybrid), KIAA0825 (Affinity Capture-MS), KIAA0825 (Affinity Capture-MS), KIAA0825 (Affinity Capture-MS), KIAA0825 (Affinity Capture-MS), MRPL47 (Cross-Linking-MS (XL-MS)), APP (Reconstituted Complex), KIAA0825 (Affinity Capture-RNA)

ESM2 similar proteins: A2RRP1, A4D1B5, E1BGH8, O43149, O88480, P53995, Q12769, Q13129, Q13315, Q3MHH2, Q3TCV3, Q3TUL7, Q3UHA3, Q3UPC7, Q3URV1, Q402B2, Q4R7B1, Q4R9E9, Q5H9S7, Q5RB52, Q5SSH7, Q5ZL79, Q5ZLS8, Q62388, Q63517, Q6P2C0, Q6TNU3, Q86VV8, Q8BJW5, Q8CE72, Q8IV33, Q8K1K4, Q8K2A7, Q8NB91, Q8NG48, Q8R4Y8, Q8TEL6, Q91VB4, Q920I9, Q92674

Diamond homologs: Q3UPC7, Q8IV33

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	5
Uncertain significance	60
Likely benign	6
Benign	16

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
2443829	NM_001145678.3(KIAA0825):c.50T>C (p.Leu17Ser)	Pathogenic
2500276	NM_001145678.3(KIAA0825):c.3451_3456+13del	Pathogenic
3629776	NM_001145678.3(KIAA0825):c.3101_3107del (p.Leu1034fs)	Pathogenic
3906258	NM_001145678.3(KIAA0825):c.2319G>A (p.Trp773Ter)	Pathogenic
218936	Single allele	Likely pathogenic
218937	Single allele	Likely pathogenic
2500277	NM_001145678.3(KIAA0825):c.2020T>A (p.Tyr674Asn)	Likely pathogenic
3906257	NM_001145678.3(KIAA0825):c.2743_2754del (p.Gln915_Val918del)	Likely pathogenic
3906259	NM_001145678.3(KIAA0825):c.970G>T (p.Val324Phe)	Likely pathogenic

SpliceAI

1768 predictions. Top by Δscore:

Variant	Effect	Δscore
5:94536991:TTTAC:T	donor_loss	1.0000
5:94536992:TTACC:T	donor_loss	1.0000
5:94536993:TACCT:T	donor_loss	1.0000
5:94536994:ACCTT:A	donor_loss	1.0000
5:94536995:C:T	donor_loss	1.0000
5:94537123:CCATT:C	acceptor_gain	1.0000
5:94537124:CATTC:C	acceptor_gain	1.0000
5:94537126:TT:T	acceptor_gain	1.0000
5:94537128:C:CC	acceptor_gain	1.0000
5:94537137:A:T	acceptor_gain	1.0000
5:94520786:CGTC:C	acceptor_gain	0.9900
5:94520914:CTTG:C	acceptor_gain	0.9900
5:94520915:T:C	acceptor_gain	0.9900
5:94520918:C:CC	acceptor_gain	0.9900
5:94520921:A:AC	acceptor_gain	0.9900
5:94520921:A:C	acceptor_gain	0.9900
5:94536994:A:AC	donor_gain	0.9900
5:94536995:C:CC	donor_gain	0.9900
5:94536995:CCTTG:C	donor_gain	0.9900
5:94537124:CATT:C	acceptor_gain	0.9900
5:94537125:ATTCT:A	acceptor_loss	0.9900
5:94537127:TC:T	acceptor_loss	0.9900
5:94537128:C:CG	acceptor_loss	0.9900
5:94537129:T:G	acceptor_loss	0.9900
5:94537136:C:CT	acceptor_gain	0.9900
5:94618496:TTA:T	donor_loss	0.9900
5:94618497:TA:T	donor_loss	0.9900
5:94618498:A:AC	donor_gain	0.9900
5:94618499:C:CC	donor_gain	0.9900
5:94618499:C:CG	donor_loss	0.9900

AlphaMissense

8491 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:94465029:A:G	W635R	0.993
5:94465029:A:T	W635R	0.993
5:94469987:A:G	W616R	0.987
5:94469987:A:T	W616R	0.987
5:94469967:A:C	F622L	0.986
5:94469967:A:T	F622L	0.986
5:94469969:A:G	F622L	0.986
5:94520737:A:G	W161R	0.985
5:94520737:A:T	W161R	0.985
5:94520712:C:G	R169P	0.984
5:94473498:A:G	W417R	0.982
5:94473498:A:T	W417R	0.982
5:94469994:G:C	S613R	0.981
5:94469994:G:T	S613R	0.981
5:94469996:T:G	S613R	0.981
5:94464883:T:A	R683S	0.979
5:94464883:T:G	R683S	0.979
5:94520715:A:G	L168P	0.979
5:94465042:G:C	F630L	0.978
5:94465042:G:T	F630L	0.978
5:94465044:A:G	F630L	0.978
5:94469985:C:A	W616C	0.977
5:94469985:C:G	W616C	0.977
5:94462435:A:G	L733P	0.972
5:94465027:C:A	W635C	0.972
5:94465027:C:G	W635C	0.972
5:94520735:C:A	W161C	0.968
5:94520735:C:G	W161C	0.968
5:94462565:C:G	D690H	0.967
5:94452999:A:G	W773R	0.963

dbSNP variants (sampled 300 via entrez): RS1000017417 (5:94266941 T>C), RS1000019855 (5:94316261 A>C), RS1000025023 (5:94411413 C>T), RS1000026212 (5:94500899 T>C), RS1000030594 (5:94313316 A>G), RS1000032870 (5:94213294 T>C), RS1000040814 (5:94321703 C>G,T), RS1000044225 (5:94215531 A>G), RS1000051151 (5:94223595 T>G), RS1000051353 (5:94604447 C>A), RS1000065675 (5:94611539 C>A), RS1000069930 (5:94514586 T>C), RS1000072268 (5:94362995 A>G), RS1000076110 (5:94518922 C>A,G,T), RS1000077275 (5:94411709 G>T)

Disease associations

OMIM: gene MIM:617266 | disease phenotypes: MIM:618498, MIM:615722, MIM:174200

GenCC curated gene-disease

Disease	Classification	Inheritance
polydactyly, postaxial, type a10	Strong	Autosomal recessive
postaxial polydactyly type A	Supportive	Autosomal recessive

Mondo (5): polydactyly, postaxial, type a10 (MONDO:0032785), Bosch-Boonstra-Schaaf optic atrophy syndrome (MONDO:0014320), postaxial polydactyly (MONDO:0020927), polydactyly, postaxial, type A1 (MONDO:0008266), postaxial polydactyly type A (MONDO:0019673)

Orphanet (1): Optic atrophy-intellectual disability syndrome (Orphanet:401777)

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001162	Postaxial hand polydactyly
HP:0001830	Postaxial foot polydactyly
HP:0003577	Congenital onset
HP:0005696	Postaxial polydactyly type A

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002432_8	Response to inhaled corticosteroid treatment in asthma (change in FEV1)	7.000000e-06
GCST003264_1608	Post bronchodilator FEV1/FVC ratio	1.000000e-06
GCST003264_824	Post bronchodilator FEV1/FVC ratio	9.000000e-07
GCST008153_36	Lean body mass	7.000000e-06
GCST90014033_40	Haemorrhoidal disease	6.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005921	FEV change measurement
EFO:0004713	FEV/FVC ratio
EFO:0004995	lean body mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, increases methylation	2
Benzo(a)pyrene	affects methylation	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	increases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
hydroxyhydroquinone	decreases expression	1
sulforaphane	decreases expression	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
tebuconazole	decreases expression	1
licochalcone B	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
Vorinostat	increases expression	1
Arsenic	affects methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Endosulfan	increases expression	1
Methapyrilene	decreases methylation	1
N-Nitrosopyrrolidine	decreases expression	1
Phthalic Acids	decreases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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