Chromosome 4

Genes Linked with Cancer (88)

How to use this data table Click on the gene name for detailed information. Type in the Search box e.g. 'germline' or 'Breast Cancer' to search within Chromosome 4; or Sort by clicking on a column heading e.g. 'Gene'.

Gene Location Aliases Abnormalities Implicated in
PHOX2B 4p12 PMX2B, NBLST2, NBPhoxGermline & Somatic-Familial Neuroblastoma
-Neuroblastoma
RHOH 4p13 TTF, ARHHSomatic-Chronic Lymphocytic Leukemia
-Non-Hodgkin Lymphoma
-Skin Cancer
UCHL1 4p14 NDGOA, PARK5, PGP95, PGP9.5, Uch-L1, HEL-117, PGP 9.5-Colorectal Cancer
-Esophageal Cancer
-Lung Cancer
-Non-Hodgkin Lymphoma
-Pancreatic Cancer
TLR1 4p14 TIL, CD281, rsc786, TIL. LPRS5-Breast Cancer
-Cervical Cancer
-Multiple Myeloma
-Prostate Cancer
RFC1 4p14-p13 A1, RFC, PO-GA, RECC1, MHCBFB, RFC140-Acute Lymphocytic Leukaemia (ALL)
-Breast Cancer
-Cervical Cancer
-Colorectal Cancer
TLR6 4p14 CD286-Breast Cancer
-Prostate Cancer
PCDH7 4p15 BHPCDH, BH-Pcdh, PPP1R120-Bone Cancer (primary)
-Colorectal Cancer
-Prostate Cancer
-Transitional Cell Cancer of the Renal Pelvis and Ureter
CD38 4p15 T10, ADPRC 1-Acute Myeloid Leukaemia
-Chronic Lymphocytic Leukemia
-Lymphoma
PPARGC1A 4p15.1 LEM6, PGC1, PGC1A, PGC-1v, PPARGC1, PGC-1(alpha)-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Lung Cancer
-Ovarian Cancer
-Prostate Cancer
SLIT2 4p15.2 SLIL3, Slit-2-Breast Cancer
-Colorectal Cancer
-Kidney Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
SLC34A2 4p15.2 NPTIIb, NAPI-3B, NAPI-IIbSomatic
Fusion
-Kidney Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Ovarian Cancer
-Thyroid Cancer
RBPJ 4p15.2 SUH, csl, AOS3, CBF1, KBF2, RBP-J, RBPJK, IGKJRB, RBPSUH, IGKJRB1-Colorectal Cancer
CTBP1 4p16 BARS-Adenomatous Polyposis Coli
-Breast Cancer
-Colorectal Cancer
-Prostate Cancer
S100P 4p16 MIG9-Bladder Cancer
-Breast Cancer
-Cervical Cancer
-Colorectal Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Pancreatic Cancer
-Prostate Cancer
FGFR3 4p16.3 ACH, CEK2, JTK4, CD333, HSFGFR3EXSomatic-Bladder Cancer
-Cervical Cancer
-Multiple Myeloma
-Transitional Cell Cancer of the Renal Pelvis and Ureter
-Urinary System Cancers
WHSC1 4p16.3 WHS, NSD2, TRX5, MMSET, REIIBPSomatic-Mantle-Cell Lymphoma
-Multiple Myeloma
TACC3 4p16.3 ERIC1, ERIC-1-Bladder Cancer
-Brain Tumours, Childhood
-Cervical Cancer
-Lung Cancer
-Multiple Myeloma
CHIC2 4q11 BTLSomatic-Leukaemia
KDR 4q11-q12 FLK1, CD309, VEGFR, VEGFR2Somatic-Breast Cancer
-Lung Cancer
CLOCK 4q12 KAT13D, bHLHe8-Breast Cancer
-Colorectal Cancer
IGFBP7 4q12 AGM, PSF, TAF, FSTL2, IBP-7, MAC25, IGFBP-7, RAMSVPS, IGFBP-7v, IGFBPRP1-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Melanoma
-Skin Cancer
REST 4q12 XBR, NRSF-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Medulloblastoma
-Neuroblastoma
-Ovarian Cancer
-Prostate Cancer
FIP1L1 4q12 Rhe, FIP1, hFip1Somatic
Deletion / Translocation
-Leukaemia
KIT 4q12 PBT, SCFR, C-Kit, CD117Germline & Somatic-Acute Myeloid Leukaemia
-Bladder Cancer
-Eye Cancer
-Gastrointestinal Cancers
-Gastrointestinal Stromal Tumors
-Lung Cancer
-Melanoma
-Osteosarcoma
-Skin Cancer
-Soft Tissue Sarcoma
-Thyroid Cancer
-Uterine Sarcoma
-Vulvar Cancer
PDGFRA 4q12 CD140A, PDGFR2, PDGFR-2, RHEPDGFRASomatic
Deletion / Translocation
-Cervical Cancer
-Gastrointestinal Cancers
-Gastrointestinal Stromal Tumors
-Leukaemia
-Skin Cancer
-Thyroid Cancer
UGT2B17 4q13 BMND12, UDPGT2B17-Bladder Cancer
-Lung Cancer
-Prostate Cancer
UGT2B7 4q13 UGT2B9, UDPGTH2, UDPGT2B7, UDPGT 2B9-Bladder Cancer
-Breast Cancer
-Liver Cancer
-Prostate Cancer
UGT2B15 4q13 HLUG4, UGT2B8, UDPGTH3, UDPGT 2B8, UDPGT2B15-Breast Cancer
-Prostate Cancer
EPHA5 4q13.1 EK7, CEK7, EHK1, HEK7, EHK-1, TYRO4-Astrocytoma, Childhood
-Brain Tumours, Childhood
-Breast Cancer
-Liver Cancer
EREG 4q13.3 ER-Bladder Cancer
-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
CXCL5 4q13.3 SCYB5, ENA-78-Breast Cancer
-Lung Cancer
-Pancreatic Cancer
-Prostate Cancer
AFP 4q13.3 AFPD, FETA, HPAFP-Liver Cancer
AREG 4q13.3 AR, SDGF, AREGB, CRDGF-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Soft Tissue Sarcoma
RASSF6 4q13.3
Methylation
-Acute Lymphocytic Leukaemia (ALL)
-Neuroblastoma
MUC7 4q13.3 MG2-Bladder Cancer
-Colorectal Cancer
-Liver Cancer
-Lung Cancer
-Pancreatic Cancer
-Transitional Cell Cancer of the Renal Pelvis and Ureter
AFF1 4q21 AF4, PBM1, MLLT2Somatic
Translocation
-Acute Lymphocytic Leukaemia (ALL)
-Acute Lymphocytic Leukemia (ALL), child
CXCL1 4q21 FSP, GRO1, GROa, MGSA, NAP-3, SCYB1, MGSA-a-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Melanoma
-Ovarian Cancer
CXCL10 4q21 C7, IFI10, INP10, IP-10, crg-2, mob-1, SCYB10, gIP-10-Breast Cancer
-Liver Cancer
-Lung Cancer
-Melanoma
CXCL13 4q21 BLC, BCA1, ANGIE, BCA-1, BLR1L, ANGIE2, SCYB13-Breast Cancer
-Ovarian Cancer
CXCL2 4q21 GRO2, GROb, MIP2, MIP2A, SCYB2, MGSA-b, MIP-2a, CINC-2a-Breast Cancer
-Colorectal Cancer
CXCL3 4q21 GRO3, GROg, MIP2B, SCYB3, MIP-2b, CINC-2b
CXCL9 4q21 CMK, MIG, Humig, SCYB9, crg-10-Breast Cancer
-Melanoma
IBSP 4q21.1 BSP, BNSP, SP-II, BSP-II-Bone Cancer (primary)
-Breast Cancer
-Cervical Cancer
-Osteosarcoma
CCNG2 4q21.1 -Brain Tumours, Childhood
-Breast Cancer
-Prostate Cancer
CXCL11 4q21.2 IP9, H174, IP-9, b-R1, I-TAC, SCYB11, SCYB9B-Acute Myeloid Leukaemia
-Bladder Cancer
-Breast Cancer
-Cervical Cancer
-Lung Cancer
-Melanoma
-Prostate Cancer
GNRHR 4q21.2 HH7, GRHR, LRHR, LHRHR, GNRHR1-Breast Cancer
-Ovarian Cancer
-Prostate Cancer
-Uterine Sarcoma
PTPN13 4q21.3 PNP1, FAP-1, PTP1E, PTPL1, PTPLE, PTP-BL, hPTP1E, PTP-BAS-Breast Cancer
-Colorectal Cancer
HPSE 4q21.3 HPA, HPA1, HPR1, HSE1, HPSE1-Breast Cancer
-Lung Cancer
-Melanoma
-Pancreatic Cancer
-Stomach Cancer
BMPR1B 4q22-q24 ALK6, ALK-6, CDw293-Breast Cancer
-Colorectal Cancer
-Ovarian Cancer
-Prostate Cancer
ATOH1 4q22 ATH1, HATH1, MATH-1, bHLHa14-Colorectal Cancer
-Medulloblastoma
ABCG2 4q22 MRX, MXR, ABCP, BCRP, BMDP, MXR1, ABC15, BCRP1, CD338, GOUT1, CDw338, UAQTL1, EST157481-Acute Lymphocytic Leukaemia (ALL)
-Breast Cancer
-Lung Cancer
-Oral Cavity Cancer
-Osteosarcoma
-Pancreatic Cancer
SPP1 4q22.1 OPN, BNSP, BSPI, ETA-1-Bone Cancer (primary)
-Breast Cancer
-Eye Cancer
-Liver Cancer
-Lung Cancer
-Uterine Sarcoma
PKD2 4q22.1 PC2, PKD4, Pc-2, APKD2, TRPP2
EIF4E 4q23 CBP, EIF4F, AUTS19, EIF4E1, EIF4EL1-Breast Cancer
-Lung Cancer
-Skin Cancer
ADH1C 4q23 ADH3-Bladder Cancer
-Breast Cancer
-Colorectal Cancer
-Esophageal Cancer
-Head and Neck Cancers
-Laryngeal Cancer
-Oral Cavity Cancer
-Stomach Cancer
RAP1GDS1 4q23-q25 GDS1, SmgGDSSomatic-Breast Cancer
-Leukaemia
-Lung Cancer
-Lung Cancer, Non-Small Cell
LEF1 4q23-q25 LEF-1, TCF10, TCF7L3, TCF1ALPHA-Chronic Lymphocytic Leukemia
-Colorectal Cancer
-Skin Cancer
ADH1B 4q23 ADH2, HEL-S-117-Breast Cancer
-Colorectal Cancer
-Esophageal Cancer
-Head and Neck Cancers
-Stomach Cancer
TET2 4q24 MDS, KIAA1546Somatic-Acute Myeloid Leukaemia
-Acute Myeloid Leukaemia (AML) - childhood
-Chronic Myelogenous Leukemia
-Myelodysplastic Syndromes
-Myeloproliferative Disorders
NFKB1 4q24 p50, KBF1, p105, EBP-1, NF-kB1, NFKB-p50, NFkappaB, NF-kappaB, NFKB-p105, NF-kappa-B-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Multiple Myeloma
PITX2 4q25 RS, RGS, ARP1, Brx1, IDG2, IGDS, IHG2, PTX2, RIEG, IGDS2, IRID2, Otlx2, RIEG1-Breast Cancer
-Ovarian Cancer
-Prostate Cancer
-Thyroid Cancer
CASP6 4q25 MCH2-Brain Stem Glioma, Childhood
-Breast Cancer
-Cervical Cancer
-Lung Cancer
-Stomach Cancer
FGF2 4q26 BFGF, FGFB, FGF-2, HBGF-2-Breast Cancer
-Cervical Cancer
-Melanoma
-Neuroblastoma
-Ovarian Cancer
-Prostate Cancer
-Uterine Sarcoma
IL2 4q26-q27 IL-2, TCGF, lymphokineSomatic-Breast Cancer
-Chronic Lymphocytic Leukemia
-Melanoma
-Ovarian Cancer
IL21 4q26-q27 Za11, IL-21, CVID11-Chronic Lymphocytic Leukemia
-Multiple Myeloma
-Ovarian Cancer
MAD2L1 4q27 MAD2, HSMAD2-Bladder Cancer
-Breast Cancer
-Stomach Cancer
-Thyroid Cancer
CCNA2 4q27 CCN1, CCNA-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Prostate Cancer
ANXA5 4q27 PP4, ANX5, ENX2, RPRGL3, HEL-S-7-Breast Cancer
-Liver Cancer
-Pancreatic Cancer
HHIP 4q28-q32 HIP-Colorectal Cancer
-Esophageal Cancer
-Liver Cancer
-Lung Cancer
-Pancreatic Cancer
-Stomach Cancer
SPRY1 4q28.1 hSPRY1-Breast Cancer
-Liver Cancer
-Prostate Cancer
FAT4 4q28.1 FATJ, FAT-J, CDHF14, CDHR11, HKLLS2, VMLDS2, NBLA00548
PCDH10 4q28.3 PCDH19, OL-PCDH-Bladder Cancer
-Cervical Cancer
-Colorectal Cancer
-Leukaemia
-Multiple Myeloma
-Prostate Cancer
-Stomach Cancer
-Testicular Cancer
SMAD1 4q31 BSP1, JV41, BSP-1, JV4-1, MADH1, MADR1-Prostate Cancer
IL15 4q31 IL-15-Acute Lymphocytic Leukaemia (ALL)
-Breast Cancer
-Lung Cancer
-Skin Cancer
NR3C2 4q31.1 MR, MCR, MLR, NR3C2VIT-Adrenocortical Cancer
-Cervical Cancer
-Lung Cancer
-Prostate Cancer
GAB1 4q31.21 -Lung Cancer
-Lung Cancer, Non-Small Cell
FBXW7 4q31.3 AGO, CDC4, FBW6, FBW7, hAgo, FBX30, FBXW6, SEL10, hCdc4, FBXO30, SEL-10Somatic-Acute Lymphocytic Leukaemia (ALL)
-Acute Lymphocytic Leukemia (ALL), child
-Breast Cancer
-Cervical Cancer
-Chronic Lymphocytic Leukemia
-Colorectal Cancer
-Wilms Tumour
SFRP2 4q31.3 FRP-2, SARP1, SDF-5-Bladder Cancer
-Colorectal Cancer
-Stomach Cancer
TLR2 4q32 TIL4, CD282-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Prostate Cancer
-Stomach Cancer
HPGD 4q34-q35 PGDH, PGDH1, PHOAR1, 15-PGDH, SDR36C1-Breast Cancer
-Colorectal Cancer
CASP3 4q34 CPP32, SCA-1, CPP32B-Bladder Cancer
-Lung Cancer
-Osteosarcoma
-Stomach Cancer
ADAM29 4q34 CT73, svph1Somatic-Chronic Lymphocytic Leukemia
-Colorectal Cancer
-Esophageal Cancer
IRF2 4q34.1-q35.1 IRF-2-Acute Myeloid Leukaemia
-Chronic Myelogenous Leukemia
-Esophageal Cancer
-Liver Cancer
VEGFC 4q34.3 VRP, Flt4-L, LMPH1D-Bladder Cancer
-Breast Cancer
-Lung Cancer
-Neuroblastoma
-Prostate Cancer
-Stomach Cancer
TLR3 4q35 CD283, IIAE2-Breast Cancer
-Cervical Cancer
-Liver Cancer
-Melanoma
DUX4L1 4q35 DUX4, DUX10Somatic-Ewing's Sarcoma
-Rhabdomyosarcoma
-Soft Tissue Sarcoma
FAT1 4q35 FAT, ME5, CDHF7, CDHR8, hFat1-Brain and CNS Tumours
-Colorectal Cancer
-Esophageal Cancer
-Head and Neck Cancers
-Oral Cavity Cancer
ING2 4q35.1 ING1L, p33ING2-Colorectal Cancer
-Liver Cancer
-Lung Cancer

Structural Abnormalities

Selected list of common recurrent structural abnormalities - Chromosome 4:

Abnormality Type Gene(s)
FIP1L1-PDGFRA fusion in LeukemiaDeletion / TranslocationPDGFRA (4q12)FIP1L1 (4q12)
SLC34A2-ROS1 Fusion in NSCLCFusionSLC34A2 (4p15.2)ROS1 (6q22)
t(4;11)(q21;q23) in Infant LeukaemiaTranslocationAFF1 (4q21)KMT2A (11q23)
t(4;11)(q21;q23) MLL-AFF1 in adult acute lymphoblastic leukemiaTranslocationAFF1 (4q21)KMT2A (11q23)

This is a highly selective list aiming to capture structural abnormalies which are frequesnt and/or significant in relation to diagnosis, prognosis, and/or characterising specific cancers. For a much more extensive list see the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer.

Further Resources (2 links)

Disclaimer: This site is for educational purposes only; it can not be used in diagnosis or treatment.

Cite this page: Cotterill SJ. Chromosome 4, Cancer Genetics Web: http://www.cancer-genetics.org/clinkc04.htm Accessed:

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