Spectrin beta chain, non-erythrocytic 4 (SPTBN4)

Homo sapiens — UniProt Q9H254

Gene: SPTBN4Homo sapiensSwissProt reviewed

Data last refreshed: 2026-04-18 (UniProt release unknown)

Key facts

Spectrin beta chain, non-erythrocytic 4 (SPTBN4) is a protein from Homo sapiens identified by UniProt accession Q9H254, 2564 residues long. MolForge cross-references it against 0 known binders and 459 disease associations.

UniProt accession: Q9H254; gene symbol SPTBN4.
Organism: Homo sapiens.
Length: 2564 amino acids.
Top disease associations (Open Targets): neurodevelopmental disorder with hypotonia, neuropathy, and deafness, peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome and genetic disorder.
3D structure: AlphaFold model available.

Target properties

Protein name	Spectrin beta chain, non-erythrocytic 4
UniProt accession	Q9H254
Gene	SPTBN4
Organism	Homo sapiens
Length	2564 residues
Molecular weight	—
EC numbers	—
Target class	—
Subcellular location	—
Keywords	—

Druggability

Target tractability assessment (Open Targets + pocket analysis). No approved drug

Druggability tier	MEDIUM
Druggability score	—
Pocket score	—
Max clinical phase	—

Disease associations (459)

Diseases linked to this target (Open Targets).

neurodevelopmental disorder with hypotonia, neuropathy, and deafness · score 0.77
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome · score 0.55
genetic disorder · score 0.50
neurodegenerative disease · score 0.36
glioblastoma multiforme · score 0.30
thyroid gland adenocarcinoma · score 0.30
breast adenocarcinoma · score 0.29
pulse pressure measurement · score 0.25
diastolic blood pressure · score 0.22
nicotine metabolite ratio · score 0.21

3D Structure (1)

Experimental (PDB) and predicted (AlphaFold) structures for this protein.

Structure	Source	Method	Mean pLDDT	Resolution (Å)
AF-Q9H254-F1	alphafold	PREDICTED	71.80	—

Experimental structures are not indexed in MolForge yet — search RCSB PDB for Q9H254.

Amino-acid sequence (2564 residues)

MAQVPGEVDN MEGLPAPNNN PAARWESPDR GWEREQPAAS TAAASLFECS RIKALADERE AVQKKTFTKW VNSHLARVGC HIGDLYVDLR DGFVLTRLLE VLSGEQLPRP TRGRMRIHSL ENVDKALQFL KEQRVHLENV GSHDIVDGNH RLTLGLVWTI ILRFQIQVIK IETEDNRETR SAKDALLLWC QMKTAGYPEV NIQNFTTSWR DGLAFNALIH RHRPDLVDFS KLTKSNANYN LQRAFRTAEQ HLGLARLLDP EDVNMEAPDE KSIITYVVSF YHYFSKMKAL AVEGKRIGKV LDQVLEVGKI IERYEELAAE LLAWIHRTVG LISNQKFANS LSGVQQQLQA FTAYCTLEKP VKFQEKGNLE VLLFSIQSKL RACNRRLFVP REGCGIWDID KAWGELEKAE HEREAALRAE LIRQEKLELL AQRFDHKVAM RESWLNENQR LVSQDNFGYE LPAVEAAMKK HEAIEADIAA YEERVQGVAE LAQALAAEGY YDIRRVAAQR DSVLRQWALL TGLVGARRTR LEQNLALQKV FQEMVYMVDW MEEMQAQLLS RECGQHLVEA DDLLQKHGLL EGDIAAQSER VEALNAAALR FSQLQGYQPC DPQVICNRVN HVHGCLAELQ EQAARRRAEL EASRSLWALL QELEEAESWA RDKERLLEAA GGGGAAGAAG AAGTAGGAHD LSSTARLLAQ HKILQGELGG RRALLQQALR CGEELVAAGG AVGPGADTVH LVGLAERAAS ARRRWQRLEE AAARRERRLQ EARALHQFGA DLDGLLDWLR DAYRLAAAGD FGHDEASSRR LARQHRALTG EVEAHRGPVS GLRRQLATLG GASGAGPLVV ALQVRVVEAE QLFAEVTEVA ALRRQWLRDA LAVYRMFGEV HACELWIGEK EQWLLSMRVP DSLDDVEVVQ HRFESLDQEM NSLMGRVLDV NHTVQELVEG GHPSSDEVRS CQDHLNSRWN RIVELVEQRK EEMSAVLLVE NHVLEVAEVR AQVREKRRAV ESAPRAGGAL QWRLSGLEAA LQALEPRQAA LLEEAALLAE RFPAQAARLH QGAEELGAEW GALASAAQAC GEAVAAAGRL QRFLHDLDAF LDWLVRAQEA AGGSEGPLPN SLEEADALLA RHAALKEEVD QREEDYARIV AASEALLAAD GAELGPGLAL DEWLPHLELG WHKLLGLWEA RREALVQAHI YQLFLRDLRQ ALVVLRNQEM ALSGAELPGT VESVEEALKQ HRDFLTTMEL SQQKMQVAVQ AAEGLLRQGN IYGEQAQEAV TRLLEKNQEN QLRAQQWMQK LHDQLELQHF LRDCHELDGW IHEKMLMARD GTREDNHKLH KRWLRHQAFM AELAQNKEWL EKIEREGQQL MQEKPELAAS VRKKLGEIRQ CWAELESTTQ AKARQLFEAS KADQLVQSFA ELDKKLLHME SQLQDVDPGG DLATVNSQLK KLQSMESQVE EWYREVGELQ AQTAALPLEP ASKELVGERQ NAVGERLVRL LEPLQERRRL LLASKELHQV AHDLDDELAW VQERLPLAMQ TERGNGLQAV QQHIKKNQGL RREIQAHGPR LEEVLERAGA LASLRSPEAE AVRRGLEQLQ SAWAGLREAA ERRQQVLDAA FQVEQYYFDV AEVEAWLGEQ ELLMMSEDKG KDEQSTLQLL KKHLQLEQGV ENYEESIAQL SRQCRALLEM GHPDSEQISR RQSQVDRLYV ALKELGEERR VALEQQYWLY QLSRQVSELE HWIAEKEVVA GSPELGQDFE HVSVLQEKFS EFASETGMAG RERLAAVNQM VDELIECGHT AAATMAEWKD GLNEAWAELL ELMGTRAQLL AASRELHKFF SDARELQGQI EEKRRRLPRL TTPPEPRPSA SSMQRTLRAF EHDLQLLVSQ VRQLQEGAAQ LRTVYAGEHA EAIASREQEV LQGWKELLSA CEDARLHVSS TADALRFHSQ VRDLLSWMDG IASQIGAADK PRDVSSVEVL MNYHQGLKTE LEARVPELTT CQELGRSLLL NKSAMADEIQ AQLDKLGTRK EEVSEKWDRH WEWLQQMLEV HQFAQEAVVA DAWLTAQEPL LQSRELGSSV DEVEQLIRRH EAFRKAAAAW EERFSSLRRL TTIEKIKAEQ SKQPPTPLLG RKFFGDPTEL AAKAAPLLRP GGYERGLEPL ARRASDTLSA EVRTRVGYVR QELKPERLQP RIDRLPEIPG RVEPAALPAA PEDAAETPAT PAAAEQVRPR PERQESADRA EELPRRRRPE RQESVDQSEE AARRRRPERQ ESAEHEAAHS LTLGRYEQME RRRERRERRL ERQESSEQEM PIRGDLVKGK ATLADIVEQL QEKEAGPGLP AGPSLPQPRE LPPGRLPNGL ELPERTPRPD RPRARDRPKP RRRPRPREGG EGGGSRRSRS APAQGGSAPA PPPPPTHTVQ HEGFLLRKRE LDANRKSSNR SWVSLYCVLS KGELGFYKDS KGPASGSTHG GEPLLSLHKA TSEVASDYKK KKHVFKLQTQ DGSEFLLQAK DEEEMNGWLE AVASSVAEHA EIARWGQTLP TTSSTDEGNP KREGGDRRAS GRRK

External references

UniProt AlphaFold QuickGO RCSB PDB GeneCards

Frequently asked questions

Answers are generated from the structured data on this page, not written by hand.

Which diseases are associated with SPTBN4?

The strongest Open Targets associations for SPTBN4 are neurodevelopmental disorder with hypotonia, neuropathy, and deafness, peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, genetic disorder, neurodegenerative disease and glioblastoma multiforme.

How long is the SPTBN4 protein?

The Homo sapiens SPTBN4 protein (UniProt Q9H254) is 2564 amino acids long.

Browse: Targets: S · all protein targets A–Z · drugs A–Z.

Sources

UniProtKB Q9H254 — name, gene, function, sequence, keywords (CC BY 4.0)
AlphaFold DB Q9H254 — predicted 3D structure (CC BY 4.0)
Open Targets Platform — disease associations and tractability (CC0)

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