GRIFIN

Summary

GRIFIN (galectin-related inter-fiber protein, HGNC:4577) is a protein-coding gene on chromosome 7p22.3, encoding Grifin (A4D1Z8).

Predicted to enable carbohydrate binding activity.

Source: NCBI Gene 402635 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• MANE Select transcript: NM_001394787

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4577
Approved symbol	GRIFIN
Name	galectin-related inter-fiber protein
Location	7p22.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000275572
Ensembl biotype	protein_coding
OMIM	619187
Entrez	402635

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 retained_intron, 1 protein_coding

ENST00000611693, ENST00000614228

RefSeq mRNA: 1 — MANE Select: NM_001394787 NM_001394787

CCDS: CCDS94046

Canonical transcript exons

ENST00000614228 — 5 exons

Exon	Start	End
ENSE00003716980	2475669	2475828
ENSE00003730550	2476372	2476398
ENSE00003735970	2475141	2475307
ENSE00003737579	2475920	2475999
ENSE00003737870	2474728	2474885

Expression profiles

Bgee: expression breadth ubiquitous, 109 present calls, max score 72.22.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	72.22	gold quality
stromal cell of endometrium	CL:0002255	61.22	gold quality
skin of leg	UBERON:0001511	60.89	gold quality
granulocyte	CL:0000094	60.63	gold quality
zone of skin	UBERON:0000014	59.95	gold quality
skin of abdomen	UBERON:0001416	58.65	gold quality
right hemisphere of cerebellum	UBERON:0014890	54.52	gold quality
cerebellar hemisphere	UBERON:0002245	52.80	gold quality
hypothalamus	UBERON:0001898	52.79	gold quality
cerebellar cortex	UBERON:0002129	52.51	gold quality
cerebellum	UBERON:0002037	52.49	gold quality
left uterine tube	UBERON:0001303	51.76	gold quality
substantia nigra	UBERON:0002038	51.65	gold quality
nucleus accumbens	UBERON:0001882	49.81	gold quality
mucosa of stomach	UBERON:0001199	48.93	gold quality
bone marrow	UBERON:0002371	48.45	gold quality
bone marrow cell	CL:0002092	48.34	gold quality
Brodmann (1909) area 9	UBERON:0013540	46.83	gold quality
sural nerve	UBERON:0015488	46.78	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	46.45	gold quality
right frontal lobe	UBERON:0002810	45.84	gold quality
tibial nerve	UBERON:0001323	45.67	gold quality
primary visual cortex	UBERON:0002436	44.95	gold quality
myometrium	UBERON:0001296	44.40	gold quality
ectocervix	UBERON:0012249	44.23	gold quality
right uterine tube	UBERON:0001302	44.18	silver quality
brain	UBERON:0000955	44.12	gold quality
body of uterus	UBERON:0009853	44.09	gold quality
anterior cingulate cortex	UBERON:0009835	44.08	gold quality
subcutaneous adipose tissue	UBERON:0002190	43.83	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.32

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Transcriptomics Analysis of Lens from Patients with Posterior Subcapsular Congenital Cataract. (PMID:34946854)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	grifin	ENSDARG00000033382
mus_musculus	Grifin	ENSMUSG00000036586
rattus_norvegicus	Grifin	ENSRNOG00000001251
caenorhabditis_elegans		WBGENE00002264
caenorhabditis_elegans		WBGENE00002266
caenorhabditis_elegans		WBGENE00002269
caenorhabditis_elegans		WBGENE00002270
caenorhabditis_elegans		WBGENE00002271
caenorhabditis_elegans		WBGENE00004165
caenorhabditis_elegans		WBGENE00018255

Paralogs (16): LGALS14 (ENSG00000006659), LGALS2 (ENSG00000100079), LGALS1 (ENSG00000100097), LGALS13 (ENSG00000105198), CLC (ENSG00000105205), LGALS8 (ENSG00000116977), LGALSL (ENSG00000119862), LGALS3 (ENSG00000131981), LGALS12 (ENSG00000133317), LGALS9 (ENSG00000168961), LGALS9B (ENSG00000170298), LGALS4 (ENSG00000171747), LGALS9C (ENSG00000171916), LGALS7B (ENSG00000178934), LGALS7 (ENSG00000205076), LGALS16 (ENSG00000249861)

Protein

Protein identifiers

Grifin — A4D1Z8 (reviewed: A4D1Z8)

Alternative names: Galectin-related inter-fiber protein

All UniProt accessions (1): A4D1Z8

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Homodimer.

Tissue specificity. Not detected in lens.

Domain organisation. The galectin domain is atypical and does not bind beta-galactoside sugars.

RefSeq proteins (1): NP_001381716* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001079	Galectin_CRD	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR044156	Galectin-like	Family

Pfam: PF00337

UniProt features (3 total): chain 1, domain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A4D1Z8-F1	87.30	0.58

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 138

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 11 (showing top): chr7p22, NIKOLSKY_BREAST_CANCER_7P22_AMPLICON, YOSHIMURA_MAPK8_TARGETS_UP, MIKKELSEN_ES_LCP_WITH_H3K4ME3, NAB2_TARGET_GENES, NABA_ECM_AFFILIATED, NABA_MATRISOME_ASSOCIATED, NABA_MATRISOME, GSE2935_UV_INACTIVATED_VS_LIVE_SENDAI_VIRUS_INF_MACROPHAGE_UP, GSE3565_CTRL_VS_LPS_INJECTED_DUSP1_KO_SPLENOCYTES_DN, GOMF_CARBOHYDRATE_BINDING

GO Biological Process (0):

GO Molecular Function (1): carbohydrate binding (GO:0030246)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

320 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GRIFIN	CRYBA4	P53673	625
GRIFIN	CRYGN	Q8WXF5	575
GRIFIN	LRIT2	A6NDA9	556
GRIFIN	CRYBB3	P26998	539
GRIFIN	LGSN	Q5TDP6	532
GRIFIN	ZBTB8B	Q8NAP8	527
GRIFIN	CRYGS	P22914	526
GRIFIN	MBOAT1	Q6ZNC8	521
GRIFIN	PLEKHG3	A1L390	512
GRIFIN	DHX32	Q7L7V1	512
GRIFIN	CRYBA2	P53672	512
GRIFIN	PTRH1	Q86Y79	506
GRIFIN	CRYBB1	P53674	505
GRIFIN	WDR49	Q8IV35	499
GRIFIN	WDR17	Q8IZU2	492

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A2IBH5, A2IBY7, A3KGF7, A4D1Z8, A8MX76, E7F9T0, F6Q2R9, O88644, O89040, P02522, P02523, P02524, P07318, P07530, P13943, P19141, P26998, P43320, P49221, P50281, P53672, P53674, P53690, P55165, P62696, P62697, P62698, Q007T1, Q05714, Q10739, Q2LEC2, Q3UW68, Q4V8Q1, Q5BK10, Q5EF38, Q5RES1, Q6J756, Q6MZZ7, Q91318, Q91320

Diamond homologs: A4D1Z8, C0HJQ1, C0HJR3, O00182, O88644, P08699, P09382, P11116, P16110, P47953, P47967, P97840, Q3B8N2, Q3MHZ8, Q3T0D6, Q49I35, Q6DGJ1, Q6DKI2, Q9D1U0, O00214, O44126, O54974, P05162, P07583, P08520, P11762, P16045, P23668, P26788, P38486, P47845, P47929, P48538, P56217, P81184, P82447, P97590, Q09581, Q29373, Q5R7M1

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

472 predictions. Top by Δscore:

Variant	Effect	Δscore
7:2475825:GAACC:G	acceptor_loss	0.9800
7:2475826:AACCT:A	acceptor_loss	0.9800
7:2475829:C:CG	acceptor_loss	0.9800
7:2475830:T:A	acceptor_loss	0.9800
7:2476004:G:GC	acceptor_gain	0.9800
7:2475734:A:AC	donor_gain	0.9700
7:2475735:C:CC	donor_gain	0.9700
7:2475915:CTGA:C	donor_loss	0.9700
7:2475916:TGAC:T	donor_loss	0.9700
7:2475917:GAC:G	donor_loss	0.9700
7:2475918:ACC:A	donor_loss	0.9700
7:2475919:C:CA	donor_loss	0.9700
7:2476000:C:CC	acceptor_gain	0.9700
7:2475914:GCTGA:G	donor_loss	0.9600
7:2475920:C:G	donor_loss	0.9400
7:2475829:C:CC	acceptor_gain	0.9300
7:2475928:T:A	donor_gain	0.9300
7:2476004:G:C	acceptor_gain	0.9200
7:2475995:TTAGA:T	acceptor_gain	0.9100
7:2475996:TAGA:T	acceptor_gain	0.9100
7:2475835:C:CT	acceptor_gain	0.8900
7:2475998:GA:G	acceptor_gain	0.8800
7:2475923:T:TA	donor_gain	0.8700
7:2475681:C:A	donor_gain	0.8500
7:2475997:AGA:A	acceptor_gain	0.8500
7:2475824:CGAAC:C	acceptor_gain	0.8400
7:2476249:AGC:A	donor_gain	0.8300
7:2475836:G:T	acceptor_gain	0.8100
7:2475999:ACTGA:A	acceptor_loss	0.8100
7:2475749:C:CT	donor_gain	0.7800

AlphaMissense

939 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:2475242:G:C	F106L	0.915
7:2475242:G:T	F106L	0.915
7:2475244:A:G	F106L	0.915
7:2475768:G:C	F51L	0.909
7:2475768:G:T	F51L	0.909
7:2475770:A:G	F51L	0.909
7:2475672:A:C	F83L	0.878
7:2475672:A:T	F83L	0.878
7:2475674:A:G	F83L	0.878
7:2475278:G:C	F94L	0.869
7:2475278:G:T	F94L	0.869
7:2475280:A:G	F94L	0.869
7:2475786:G:C	F45L	0.862
7:2475786:G:T	F45L	0.862
7:2475788:A:G	F45L	0.862
7:2475696:G:C	F75L	0.856
7:2475696:G:T	F75L	0.856
7:2475698:A:G	F75L	0.856
7:2475825:G:C	F32L	0.849
7:2475825:G:T	F32L	0.849
7:2475827:A:G	F32L	0.849
7:2475738:G:C	F61L	0.846
7:2475738:G:T	F61L	0.846
7:2475740:A:G	F61L	0.846
7:2475813:G:C	F36L	0.822
7:2475813:G:T	F36L	0.822
7:2475815:A:G	F36L	0.822
7:2475988:G:C	F8L	0.807
7:2475988:G:T	F8L	0.807
7:2475990:A:G	F8L	0.807

dbSNP variants (sampled 300 via entrez): RS1000350866 (7:2476695 C>A,G,T), RS1001310919 (7:2477691 G>A), RS1001635760 (7:2475397 C>T), RS1001909414 (7:2476079 C>A,T), RS1002208145 (7:2474407 G>A), RS1003582114 (7:2477386 A>G), RS1004953143 (7:2475615 G>A), RS1005097719 (7:2475453 C>T), RS1005696574 (7:2476833 T>A), RS1007168661 (7:2477201 C>T), RS1007729296 (7:2476522 T>G), RS1007816412 (7:2477336 C>T), RS1008166126 (7:2478218 C>T), RS1008570108 (7:2478136 C>G,T), RS1010836090 (7:2477341 G>A)

Disease associations

OMIM: gene MIM:619187 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90002402_11	Platelet count	7.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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