KIAA2012

Summary

KIAA2012 (HGNC:51250) is a protein-coding gene on chromosome 2q33.1, encoding Uncharacterized protein KIAA2012 (Q0VF49).

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_001277372

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51250
Approved symbol	KIAA2012
Name	KIAA2012
Location	2q33.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000182329
Ensembl biotype	protein_coding
Entrez	100652824

Gene structure

Transcript identifiers

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

ENST00000409515, ENST00000459709, ENST00000469462, ENST00000498697

RefSeq mRNA: 2 — MANE Select: NM_001277372 NM_001277372, NM_001367720

CCDS: CCDS74631

Canonical transcript exons

ENST00000498697 — 24 exons

Exon	Start	End
ENSE00003545591	202105761	202105910
ENSE00003794279	202204998	202205188
ENSE00003796417	202196800	202197019
ENSE00003797337	202202429	202202587
ENSE00003801922	202154673	202154810
ENSE00003801930	202125214	202125282
ENSE00003802904	202102946	202103114
ENSE00003803276	202113336	202113446
ENSE00003803367	202073255	202073711
ENSE00003803449	202090770	202090929
ENSE00003804630	202194190	202194362
ENSE00003805280	202165284	202165356
ENSE00003806867	202074891	202075175
ENSE00003806943	202109613	202109789
ENSE00003806945	202097435	202097577
ENSE00003808307	202093030	202093185
ENSE00003808381	202100307	202100449
ENSE00003809203	202186933	202187098
ENSE00003809397	202184753	202184843
ENSE00003809436	202138432	202138508
ENSE00003809955	202099613	202099796
ENSE00003810199	202188152	202188266
ENSE00003811034	202190174	202190493
ENSE00003811455	202193301	202193503

Expression profiles

Bgee: expression breadth broad, 85 present calls, max score 88.33.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2081 / max 43.0608, expressed in 74 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24701	0.1290	54
24702	0.0440	23
24704	0.0186	8
24703	0.0165	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	88.33	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	80.48	gold quality
bronchial epithelial cell	CL:0002328	78.75	gold quality
oocyte	CL:0000023	78.67	gold quality
bronchus	UBERON:0002185	77.04	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.71	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	72.05	gold quality
epithelium of nasopharynx	UBERON:0001951	67.42	gold quality
fallopian tube	UBERON:0003889	67.23	gold quality
oviduct epithelium	UBERON:0004804	65.63	gold quality
nasal cavity mucosa	UBERON:0001826	61.34	gold quality
mucosa of paranasal sinus	UBERON:0005030	60.61	silver quality
prefrontal cortex	UBERON:0000451	59.26	gold quality
nucleus accumbens	UBERON:0001882	58.74	gold quality
superficial temporal artery	UBERON:0001614	58.44	gold quality
secondary oocyte	CL:0000655	58.08	gold quality
Brodmann (1909) area 9	UBERON:0013540	57.07	gold quality
cortical plate	UBERON:0005343	56.90	gold quality
pituitary gland	UBERON:0000007	56.89	gold quality
anterior cingulate cortex	UBERON:0009835	56.87	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	56.19	gold quality
hypothalamus	UBERON:0001898	56.00	gold quality
ventricular zone	UBERON:0003053	55.92	gold quality
left uterine tube	UBERON:0001303	55.66	gold quality
caudate nucleus	UBERON:0001873	55.55	gold quality
adenohypophysis	UBERON:0002196	55.51	gold quality
upper leg skin	UBERON:0004262	55.35	gold quality
right frontal lobe	UBERON:0002810	55.34	gold quality
vena cava	UBERON:0004087	55.30	gold quality
Ammon’s horn	UBERON:0001954	55.14	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting KIAA2012, 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-548AN	99.97	70.91	2817
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-6887-5P	98.56	68.49	1295
HSA-MIR-6795-5P	98.52	68.51	1277
HSA-MIR-532-5P	98.43	67.53	760

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm973	ENSMUSG00000047361
rattus_norvegicus	Kiaa2012	ENSRNOG00000022723

Protein

Protein identifiers

Uncharacterized protein KIAA2012 — Q0VF49 (reviewed: Q0VF49)

All UniProt accessions (2): A0A1B0GV91, H7C5G6

UniProt curated annotations — full annotation on UniProt →

Isoforms (2)

UniProt ID	Names	Canonical?
Q0VF49-1	1	yes
Q0VF49-2	2

RefSeq proteins (2): NP_001264301, NP_001354649 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031440	DUF4670	Family

Pfam: PF15709

UniProt features (23 total): compositionally biased region 12, region of interest 7, splice variant 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q0VF49-F1	49.69	0.12

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 11 (showing top): CBX7_TARGET_GENES, HES2_TARGET_GENES, GAO_ESOPHAGUS_25W_C1_CILIATED_EPITHELIAL_CELLS, DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_ADRENAL_SYMPATHOBLASTS, DESCARTES_FETAL_CEREBRUM_ASTROCYTES, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_STOMACH_CILIATED_EPITHELIAL_CELLS, TRAVAGLINI_LUNG_CILIATED_CELL, TRAVAGLINI_LUNG_PROXIMAL_CILIATED_CELL, chr2q33

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

783 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIAA2012	VWA5B1	Q5TIE3	666
KIAA2012	MYLIP	Q8WY64	513
KIAA2012	DCTN1	Q14203	434
KIAA2012	ATRN	O75882	390
KIAA2012	ITPKB	P27987	358
KIAA2012	PSMB4	P28070	349
KIAA2012	PEX10	O60683	348
KIAA2012	PSMB3	P31147	347
KIAA2012	PSMD11	O00231	321
KIAA2012	HADH	Q16836	313
KIAA2012	FAH	P16930	304
KIAA2012	PSMC4	P43686	295
KIAA2012	C7orf25	Q9BPX7	290
KIAA2012	MRPS24	P82668	283
KIAA2012	PSMB2	P31145	277

IntAct

0 interactions, top by confidence:

BioGRID (8): KIAA2012 (Affinity Capture-MS), KIAA2012 (Affinity Capture-MS), PFDN2 (Cross-Linking-MS (XL-MS)), DDX21 (Cross-Linking-MS (XL-MS)), TMCO1 (Cross-Linking-MS (XL-MS)), KIAA2012 (Cross-Linking-MS (XL-MS)), TCEA3 (Cross-Linking-MS (XL-MS)), RIF1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GUA9, A0JNH1, A1L170, A2TJV2, A6H7B4, A6NFA0, A6NGY1, A6X8Z5, A7YY35, B2RQL2, D3Z1D3, M0RD54, P43359, Q05860, Q0VF49, Q1RMX6, Q1RN00, Q2M1Z3, Q32LI3, Q3URK1, Q5EBJ4, Q5M831, Q5RJL0, Q62100, Q640N3, Q64256, Q642A3, Q66H53, Q66LM6, Q68D20, Q68DA7, Q68US1, Q6AXN6, Q6AYA8, Q6IR42, Q711Q0, Q80VY2, Q86UF4, Q8IY42, Q8TDR4

Diamond homologs: A7YY35, Q0VF49

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

4074 predictions. Top by Δscore:

Variant	Effect	Δscore
2:202102944:A:AG	acceptor_gain	1.0000
2:202102945:G:GG	acceptor_gain	1.0000
2:202103112:GAG:G	donor_gain	1.0000
2:202103113:AGGT:A	donor_loss	1.0000
2:202103115:GTA:G	donor_loss	1.0000
2:202103116:T:A	donor_loss	1.0000
2:202109611:A:G	acceptor_gain	1.0000
2:202109612:GAT:G	acceptor_gain	1.0000
2:202113334:A:G	acceptor_gain	1.0000
2:202165283:GGAAA:G	acceptor_gain	1.0000
2:202165352:CCAAG:C	donor_loss	1.0000
2:202165353:CAAG:C	donor_loss	1.0000
2:202165354:AAG:A	donor_loss	1.0000
2:202165355:AG:A	donor_loss	1.0000
2:202165356:GGTA:G	donor_loss	1.0000
2:202165357:GTA:G	donor_loss	1.0000
2:202184839:AAAGT:A	donor_gain	1.0000
2:202184840:AAGT:A	donor_gain	1.0000
2:202184842:GT:G	donor_gain	1.0000
2:202184844:G:GG	donor_gain	1.0000
2:202194189:GCTT:G	acceptor_gain	1.0000
2:202194344:G:GT	donor_gain	1.0000
2:202194347:G:GT	donor_gain	1.0000
2:202194368:G:GT	donor_gain	1.0000
2:202194425:GCT:G	donor_gain	1.0000
2:202196795:T:TA	acceptor_gain	1.0000
2:202196796:GCA:G	acceptor_loss	1.0000
2:202196797:CA:C	acceptor_loss	1.0000
2:202196798:A:AG	acceptor_gain	1.0000
2:202196798:AGAG:A	acceptor_gain	1.0000

AlphaMissense

7759 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000015992 (2:202159633 T>C), RS1000072539 (2:202136760 C>A,G), RS1000081143 (2:202106891 G>A), RS1000082989 (2:202172973 A>G), RS1000101946 (2:202153222 C>T), RS1000113916 (2:202089805 T>C), RS1000163642 (2:202086642 T>C), RS1000171453 (2:202120339 G>A), RS1000189958 (2:202178599 C>A,T), RS1000197207 (2:202132677 T>A,C), RS1000241631 (2:202184477 G>A), RS1000250537 (2:202176696 T>C), RS1000255736 (2:202082727 T>C), RS1000276008 (2:202102788 G>A), RS1000300475 (2:202129585 A>AGT)

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

6 associations (top):

Study	Trait	p-value
GCST006288_241	Heel bone mineral density	2.000000e-11
GCST006288_504	Heel bone mineral density	3.000000e-13
GCST006979_84	Heel bone mineral density	2.000000e-34
GCST007429_69	Lung function (FVC)	9.000000e-13
GCST007432_8	FEV1	6.000000e-07
GCST90000025_864	Appendicular lean mass	9.000000e-20

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004312	vital capacity
EFO:0004314	forced expiratory volume
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
benzo(e)pyrene	increases methylation	1
ferrous chloride	decreases expression	1
abrine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Methapyrilene	increases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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