CFAP97D1

Summary

CFAP97D1 (CFAP97 domain containing 1, HGNC:37241) is a protein-coding gene on chromosome 17q21.31, encoding Sperm axonemal maintenance protein CFAP97D1 (B2RV13). Required for male fertility through its role in axonemal doublet stabilization which is essential for sperm motility and fertilization.

Predicted to be involved in sperm axoneme assembly.

Source: NCBI Gene 284067 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001136483

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37241
Approved symbol	CFAP97D1
Name	CFAP97 domain containing 1
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000231256
Ensembl biotype	protein_coding
OMIM	619866
Entrez	284067

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay

ENST00000449302, ENST00000590148

RefSeq mRNA: 2 — MANE Select: NM_001136483 NM_001136483, NM_001353400

CCDS: CCDS45695

Canonical transcript exons

ENST00000449302 — 6 exons

Exon	Start	End
ENSE00001602401	43783837	43783893
ENSE00001642719	43781119	43781189
ENSE00001661757	43783180	43783303
ENSE00001790760	43780435	43780586
ENSE00001805809	43781774	43781892
ENSE00002777027	43784383	43787620

Expression profiles

Bgee: expression breadth broad, 43 present calls, max score 95.08.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1014 / max 81.1953, expressed in 4 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161089	0.1014	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	95.08	gold quality
right testis	UBERON:0004534	91.98	gold quality
left testis	UBERON:0004533	91.86	gold quality
testis	UBERON:0000473	87.95	gold quality
adult organism	UBERON:0007023	77.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.85	gold quality
sural nerve	UBERON:0015488	58.63	silver quality
lower lobe of lung	UBERON:0008949	54.57	silver quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
epithelial cell of pancreas	CL:0000083	53.60	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
pancreatic ductal cell	CL:0002079	51.37	silver quality
myocardium	UBERON:0002349	50.25	gold quality
ileal mucosa	UBERON:0000331	49.89	silver quality
tibialis anterior	UBERON:0001385	49.06	silver quality
deltoid	UBERON:0001476	48.08	gold quality
leukocyte	CL:0000738	47.42	silver quality
monocyte	CL:0000576	47.36	silver quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
cortical plate	UBERON:0005343	46.66	gold quality
quadriceps femoris	UBERON:0001377	46.41	gold quality
skeletal muscle tissue	UBERON:0001134	45.53	silver quality
vastus lateralis	UBERON:0001379	45.50	gold quality
prefrontal cortex	UBERON:0000451	45.13	gold quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
cauda epididymis	UBERON:0004360	43.12	gold quality
secondary oocyte	CL:0000655	42.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting CFAP97D1, 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-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-567	99.63	68.57	1219
HSA-MIR-4711-3P	98.97	66.87	1020
HSA-MIR-3189-5P	97.55	66.71	655
HSA-MIR-3157-5P	97.41	67.61	998
HSA-MIR-5699-5P	97.36	67.03	1014
HSA-MIR-643	97.35	67.91	805
HSA-MIR-103B	95.51	66.85	441
HSA-MIR-4323	93.93	63.89	656

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cfap97d1	ENSMUSG00000010841
rattus_norvegicus	Cfap97d1	ENSRNOG00000036796

Protein

Protein identifiers

Sperm axonemal maintenance protein CFAP97D1 — B2RV13 (reviewed: B2RV13)

Alternative names: CFAP97 domain-containing protein 1

All UniProt accessions (2): B2RV13, K7ER76

UniProt curated annotations — full annotation on UniProt →

Function. Required for male fertility through its role in axonemal doublet stabilization which is essential for sperm motility and fertilization.

Tissue specificity. Expressed exclusively in testis.

Similarity. Belongs to the CFAP97 family.

RefSeq proteins (2): NP_001129955, NP_001340329 (=MANE)

Domains & families (InterPro)

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

Pfam: PF13879

UniProt features (2 total): chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B2RV13-F1	84.80	0.49

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 42 (showing top): GOBP_MALE_GAMETE_GENERATION, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, GOBP_MICROTUBULE_CYTOSKELETON_ORGANIZATION, ZNF664_TARGET_GENES, MIR627_3P, MIR4307

GO Biological Process (1): sperm axoneme assembly (GO:0007288)

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
developmental process involved in reproduction	1
axoneme assembly	1
sperm flagellum assembly	1
binding	1

Protein interactions and networks

STRING

1234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP97D1	C17orf50	Q8WW18	691
CFAP97D1	C5orf52	A6NGY3	610
CFAP97D1	SPMAP1	A8MV24	582
CFAP97D1	SPEM2	Q0P670	580
CFAP97D1	AXDND1	Q5T1B0	543
CFAP97D1	ENTPD6	O75354	542
CFAP97D1	MRPL34	Q9BQ48	531
CFAP97D1	TMEM42	Q69YG0	512
CFAP97D1	CCDC24	Q8N4L8	478
CFAP97D1	TLCD5	Q6ZRR5	475
CFAP97D1	SPMIP9	Q96LM6	474
CFAP97D1	CCDC116	Q8IYX3	447
CFAP97D1	KRTAP9-7	A8MTY7	446
CFAP97D1	TBC1D3K	A0A087X1G2	446
CFAP97D1	FBXW12	Q6X9E4	439

IntAct

6 interactions, top by confidence:

A	B	Type	Score
CFAP97D1	BCL6	psi-mi:“MI:0915”(physical association)	0.560
CFAP97D1	PPIB	psi-mi:“MI:0915”(physical association)	0.400
CFAP97D1	TPM2	psi-mi:“MI:0914”(association)	0.350
BCL6	CFAP97D1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): CST6 (Affinity Capture-MS), ACADVL (Affinity Capture-MS), CALML3 (Affinity Capture-MS), S100A2 (Affinity Capture-MS), TPM2 (Affinity Capture-MS), CALML3 (Affinity Capture-MS), S100A2 (Affinity Capture-MS), CST6 (Affinity Capture-MS), C17orf105 (Two-hybrid), PPIB (Proximity Label-MS), C17orf105 (Negative Genetic), NOLC1 (Cross-Linking-MS (XL-MS)), C17orf105 (Protein-peptide)

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

782 predictions. Top by Δscore:

Variant	Effect	Δscore
17:43781890:G:GT	donor_gain	1.0000
17:43781890:GAG:G	donor_gain	1.0000
17:43781892:GGTAA:G	donor_loss	1.0000
17:43781893:GTAAT:G	donor_loss	1.0000
17:43781894:T:A	donor_loss	1.0000
17:43784371:A:AG	acceptor_gain	1.0000
17:43784371:ACT:A	acceptor_gain	1.0000
17:43784372:C:G	acceptor_gain	1.0000
17:43784373:T:A	acceptor_gain	1.0000
17:43784381:A:G	acceptor_gain	1.0000
17:43780551:GCCAC:G	donor_gain	0.9900
17:43780583:ATAG:A	donor_loss	0.9900
17:43780587:GT:G	donor_loss	0.9900
17:43781772:A:AG	acceptor_gain	0.9900
17:43781772:AG:A	acceptor_gain	0.9900
17:43781773:G:GG	acceptor_gain	0.9900
17:43781773:GG:G	acceptor_gain	0.9900
17:43781773:GGGT:G	acceptor_gain	0.9900
17:43781893:G:GG	donor_gain	0.9900
17:43783835:A:G	acceptor_gain	0.9900
17:43784380:A:AG	acceptor_gain	0.9900
17:43784380:AAG:A	acceptor_gain	0.9900
17:43780555:C:CG	donor_gain	0.9800
17:43780582:AATAG:A	donor_gain	0.9800
17:43781770:CCAG:C	acceptor_loss	0.9800
17:43781771:CAG:C	acceptor_loss	0.9800
17:43781862:T:TA	donor_gain	0.9800
17:43781863:G:GA	donor_gain	0.9800
17:43783301:C:T	donor_gain	0.9800
17:43783759:A:G	acceptor_gain	0.9800

AlphaMissense

1094 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:43781820:T:C	L81P	0.958
17:43783840:T:C	S148P	0.956
17:43783203:G:C	R113P	0.946
17:43781834:G:C	A86P	0.945
17:43783231:C:A	N122K	0.927
17:43783231:C:G	N122K	0.927
17:43783229:A:G	N122D	0.925
17:43783242:T:C	L126P	0.923
17:43781812:C:A	N78K	0.920
17:43781812:C:G	N78K	0.920
17:43783233:A:C	Q123P	0.920
17:43781840:G:C	A88P	0.915
17:43783251:T:C	L129P	0.915
17:43783209:T:C	L115P	0.910
17:43781131:T:A	V46D	0.902
17:43781866:T:A	D96E	0.892
17:43781866:T:G	D96E	0.892
17:43783298:T:A	W145R	0.886
17:43783298:T:C	W145R	0.886
17:43783230:A:C	N122T	0.878
17:43783300:G:C	W145C	0.873
17:43783300:G:T	W145C	0.873
17:43783230:A:T	N122I	0.869
17:43781832:T:G	I85S	0.867
17:43781869:C:G	C97W	0.861
17:43783229:A:C	N122H	0.861
17:43781867:T:C	C97R	0.859
17:43783230:A:G	N122S	0.858
17:43781864:G:C	D96H	0.857
17:43781810:A:G	N78D	0.853

dbSNP variants (sampled 300 via entrez): RS1000602014 (17:43778777 C>A,T), RS1000972813 (17:43778936 G>A,T), RS1001088813 (17:43779011 G>A,C,T), RS1001236686 (17:43778873 C>T), RS1001251253 (17:43784691 G>T), RS1001648136 (17:43781830 A>T), RS1001790932 (17:43779344 C>T), RS1002250814 (17:43780259 A>G), RS1002858277 (17:43787071 A>G), RS1002910075 (17:43786857 T>C), RS1002912329 (17:43783056 C>T), RS1003355694 (17:43782872 T>G), RS1003371397 (17:43781153 G>A,T), RS1004443983 (17:43780412 T>A,C), RS1004534527 (17:43785128 C>T)

Disease associations

OMIM: gene MIM:619866 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST008070_25	HDL cholesterol levels	2.000000e-10
GCST008070_90	HDL cholesterol levels	9.000000e-09
GCST008074_103	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	8.000000e-20
GCST008074_48	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	5.000000e-21
GCST008075_153	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	9.000000e-34
GCST008075_18	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	7.000000e-31
GCST008083_149	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	7.000000e-21
GCST008083_85	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1.000000e-22
GCST008084_154	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1.000000e-41
GCST008084_30	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	3.000000e-36
GCST008085_143	HDL cholesterol levels in current drinkers	4.000000e-12
GCST008085_22	HDL cholesterol levels in current drinkers	2.000000e-13
GCST008087_23	Triglyceride levels in current drinkers	2.000000e-08
GCST008087_97	Triglyceride levels in current drinkers	2.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0004329	alcohol drinking

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
bisphenol F	affects cotreatment, increases methylation	1
tebuconazole	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Catechin	affects cotreatment, increases expression	1
Lead	increases expression	1
Methotrexate	increases expression	1
Tretinoin	decreases expression	1

Clinical trials (associated diseases)

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