CFAP97D2

Summary

CFAP97D2 (CFAP97 domain containing 2, HGNC:53789) is a protein-coding gene on chromosome 13q34, encoding Uncharacterized protein CFAP97D2 (A0A1B0GU71).

At a glance

• MANE Select transcript: NM_001395229

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53789
Approved symbol	CFAP97D2
Name	CFAP97 domain containing 2
Location	13q34
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000283361
Ensembl biotype	protein_coding
Entrez	101929355

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000635874, ENST00000635901, ENST00000635974, ENST00000636692, ENST00000643687, ENST00000646158, ENST00000956602

RefSeq mRNA: 2 — MANE Select: NM_001395229 NM_001395229, NM_001395230

CCDS: CCDS91844, CCDS91845

Canonical transcript exons

ENST00000636692 — 4 exons

Exon	Start	End
ENSE00003798134	114200325	114200443
ENSE00003800683	114196396	114196476
ENSE00003978197	114222501	114223085
ENSE00003978198	114179257	114179420

Expression profiles

Bgee: expression breadth broad, 78 present calls, max score 94.00.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1886 / max 24.3027, expressed in 79 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
136280	0.0747	31
136281	0.0577	30
136282	0.0562	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.00	gold quality
granulocyte	CL:0000094	82.96	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.92	gold quality
body of pancreas	UBERON:0001150	81.97	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	80.96	gold quality
right testis	UBERON:0004534	74.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.35	gold quality
left testis	UBERON:0004533	72.09	gold quality
fallopian tube	UBERON:0003889	71.72	gold quality
testis	UBERON:0000473	71.38	gold quality
pancreas	UBERON:0001264	69.40	gold quality
caudate nucleus	UBERON:0001873	68.49	gold quality
hypothalamus	UBERON:0001898	66.42	gold quality
nucleus accumbens	UBERON:0001882	66.36	gold quality
Ammon’s horn	UBERON:0001954	62.55	gold quality
temporal lobe	UBERON:0001871	60.62	gold quality
amygdala	UBERON:0001876	60.52	gold quality
right lung	UBERON:0002167	60.42	gold quality
anterior cingulate cortex	UBERON:0009835	59.98	gold quality
substantia nigra	UBERON:0002038	59.04	gold quality
blood	UBERON:0000178	58.58	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	56.58	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	56.35	gold quality
cerebral cortex	UBERON:0000956	56.06	gold quality
superior frontal gyrus	UBERON:0002661	55.90	gold quality
Brodmann (1909) area 9	UBERON:0013540	55.90	gold quality
right frontal lobe	UBERON:0002810	55.13	gold quality
putamen	UBERON:0001874	54.26	gold quality
frontal cortex	UBERON:0001870	53.65	gold quality
leukocyte	CL:0000738	53.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.38

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Uncharacterized protein CFAP97D2 — A0A1B0GU71 (reviewed: A0A1B0GU71)

Alternative names: CFAP97 domain-containing protein 2

All UniProt accessions (4): A0A1B0GU71, A0A1B0GV50, A0A2R8Y7J0, A0A2R8Y7P9

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the CFAP97 family.

RefSeq proteins (2): NP_001382158, NP_001382159 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029488	Hmw/CFAP97	Family
IPR038792	CFAP97D1/2	Family

Pfam: PF13879

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GU71-F1	86.17	0.56

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr13q34

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

86 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP97D2	CFAP97	Q9P2B7	589
CFAP97D2	DRC3	Q9H069	376
CFAP97D2	QRICH2	Q9H0J4	354
CFAP97D2	TTLL9	Q3SXZ7	348
CFAP97D2	CFAP54	Q96N23	339
CFAP97D2	CFAP69	A5D8W1	312
CFAP97D2	KIF9	Q9HAQ2	305
CFAP97D2	CFAP43	Q8NDM7	293
CFAP97D2	RSPH6A	Q9H0K4	292
CFAP97D2	TEKT4	Q8WW24	290
CFAP97D2	CFAP44	Q96MT7	276
CFAP97D2	DNAH17	Q9UFH2	250
CFAP97D2	IZUMO1	Q8IYV9	244
CFAP97D2	PLA2G3	Q9NZ20	240
CFAP97D2	DNAH1	Q9P2D7	236

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GU71, A6QPI4, B2RV13, D4A6L0, E1BBQ2, F1LQY6, G3UW36, O08856, P15382, P53801, P55199, P56182, Q08CB3, Q0VF94, Q148E1, Q17RQ9, Q2KJ58, Q32Q90, Q4R5F9, Q4V8A6, Q4VA36, Q5I0I4, Q5NVI6, Q5R8Q2, Q5T6X4, Q5T848, Q5XII8, Q68EN5, Q6P767, Q8C419, Q8CHT6, Q8R143, Q8R1T1, Q8TBN0, Q8VDV3, Q8WUX9, Q90YH8, Q91WM6, Q91ZP9, Q96IL0

Diamond homologs: A0A1B0GU71, B2RV13, G3UW36, Q9DAN9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

639 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:114179411:C:A	H27Q	0.835
13:114179411:C:G	H27Q	0.835
13:114196406:C:A	A34D	0.809
13:114200338:G:C	R62P	0.802
13:114179409:C:G	H27D	0.796
13:114196397:T:A	V31D	0.796
13:114200350:T:A	I66N	0.796
13:114179414:G:C	R28S	0.776
13:114179414:G:T	R28S	0.776
13:114200365:G:C	R71P	0.759
13:114196476:G:C	K57N	0.750
13:114196476:G:T	K57N	0.750
13:114196467:G:C	K54N	0.749
13:114196467:G:T	K54N	0.749
13:114200362:A:T	N70I	0.747
13:114200363:C:A	N70K	0.735
13:114200363:C:G	N70K	0.735
13:114196449:T:A	H48Q	0.724
13:114196449:T:G	H48Q	0.724
13:114200385:G:C	A78P	0.723
13:114196422:C:A	D39E	0.709
13:114196422:C:G	D39E	0.709
13:114200371:T:C	L73P	0.705
13:114196397:T:C	V31A	0.702
13:114200396:G:A	M81I	0.699
13:114200396:G:C	M81I	0.699
13:114200396:G:T	M81I	0.699
13:114200368:T:C	L72P	0.693
13:114196405:G:C	A34P	0.689
13:114179409:C:A	H27N	0.688

dbSNP variants (sampled 300 via entrez): RS1000116536 (13:114216406 C>T), RS1000261961 (13:114190123 C>G,T), RS1000300328 (13:114210025 A>G), RS1000303385 (13:114204030 G>C), RS1000318695 (13:114188564 T>G), RS1000461055 (13:114195632 A>G), RS1000536874 (13:114196553 A>C,G), RS1000603958 (13:114188202 G>A), RS1000636928 (13:114189727 C>A,G), RS1000664162 (13:114190272 G>A,C), RS1000780903 (13:114183975 C>A), RS1000799779 (13:114183715 A>G), RS1000823617 (13:114182824 A>G), RS1000931834 (13:114196872 T>A,C), RS1000944477 (13:114180654 A>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

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases expression, increases abundance	1
Smoke	increases abundance, increases expression	1

Clinical trials (associated diseases)

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